Podcasts about Progeria

La progeria, es un trastorno genético progresivo extremadamente raro caracterizado por una aceleración del envejecimiento de los niños a partir de los primeros dos años de vida. De esta rara patología hablamos esta noche con José Miguel García académico de número de Genética Real Academia Nacional de Medicina. Con una nueva curiosidad sobre la naturaleza a cargo de nuestro compañero José Luís Viejo, más noticias y la canción del invitado terminamos el programa.Escuchar audio

Lo que somos está contenido en nuestro ADN, una inmensa biblioteca distribuida en 23 pares de “salas”, nuestros cromosomas, donde las instrucciones se escriben con un alfabeto de solo cuatro letras. En el ADN hay más de 6.000 millones de estas letras. La información se copia en cada célula desde el embrión, en un proceso que no está exento de errores. Normalmente, estos errores no tienen consecuencias, pero en muy raras ocasiones, el cambio de una sola letra puede tener efectos dramáticos. Ese es el caso de la progeria, una enfermedad genética extremadamente rara que provoca un envejecimiento prematuro. En el Centro de Investigaciones Biológicas Margarita Salas, Ignacio Benedicto Español y su equipo buscan nuevas vías para tratar esta enfermedad.

Lo que somos está contenido en nuestro ADN, una inmensa biblioteca distribuida en 23 pares de “salas”, nuestros cromosomas, donde las instrucciones se escriben con un alfabeto de solo cuatro letras. En el ADN hay más de 6.000 millones de estas letras. La información se copia en cada célula desde el embrión, en un proceso que no está exento de errores. Normalmente, estos errores no tienen consecuencias, pero en muy raras ocasiones, el cambio de una sola letra puede tener efectos dramáticos. Ese es el caso de la progeria, una enfermedad genética extremadamente rara que provoca un envejecimiento prematuro. En el Centro de Investigaciones Biológicas Margarita Salas, Ignacio Benedicto Español y su equipo buscan nuevas vías para tratar esta enfermedad.

La cerimonia programmata per venerdì prossimo alle 15.30 sarà preceduta da un momento di condivisione di testimonianze. Lo spazio scelto dopo l'incontro tra sindaco e genitori di Sammy sarà quello antistante a chiesa e campo di calcio, capace di ospitare qualche migliaio di persone. Il 28enne vicentino, biologo e attivista, è spirato sabato scorso durante un ricevimento nuziale, per un malore.

The moment we meet someone – especially for the first time – we're sizing them up. We notice perceived gender, race, and one of the big ones: age. But what happens when you look much older than you actually are? Meet a man with progeria - a rare condition that causes accelerated aging; And a woman with cutis laxa - a rare connective tissue disorder where skin has less elasticity. Resources: The Progeria Research Foundation Cutis Laxa International Suggested episodes: (Almost) Everybody Hurts: An Exploration of Pain Total Recall: What It's Like To Remember Every Day Like It Was Yesterday Body Integrity Dysphoria: When being disabled is a desire GUESTS:  Michiel Vandeweert: A 26-year-old man from Belgium. He has progeria, a rare condition that causes accelerated aging Cécile Gueye: A 32-year-old woman who lives near Geneva, Switzerland. She has cutis laxa, a rare connective tissue disorder Support the show: https://www.wnpr.org/donateSee omnystudio.com/listener for privacy information.

Tiffany sits down with us to chat about her diagnosis of Hutchinson-Gilford Progeria Syndrome, which is a progressive genetic disorder that causes children to age rapidly. This is a must listen! *Interested in helping this podcast continue? Email us about becoming a sponsor or join Patreon to be a part of the family!  TOWNSEND INFO: Spotify: https://open.spotify.com/show/1b4NMntfcyxfnOveFp8imK?si=fQj7iDS9TOegCm1MEP0esQ Website: https://www.townsendtmusic.com YouTube: https://m.youtube.com/channel/UCFyBoiYh1ePwhtD5BM4ZP8Q Facebook: https://m.facebook.com/townsendtmusic Patreon: https://www.patreon.com/TownsendTMusic Instagram: https://www.instagram.com/Townsendtmusic 

BUFFALO, NY- February 20, 2024 – A new #research paper was #published in Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 16, Issue 3, entitled, “Defining the progeria phenome.” Progeroid disorders are a heterogenous group of rare and complex hereditary syndromes presenting with pleiotropic phenotypes associated with normal aging. Due to the large variation in clinical presentation the diseases pose a diagnostic challenge for clinicians which consequently restricts medical research. In this new study, researchers Cecilie Worm, Maya Elena Ramirez Schambye, Garik V. Mkrtchyan, Alexander Veviorskiy, Anastasia Shneyderman, Ivan V. Ozerov, Alex Zhavoronkov, Daniela Bakula, and Morten Scheibye-Knudsen from the University of Copenhagen and Insilico Medicine aimed to accommodate this challenge by compiling a list of known progeroid syndromes and calculating the mean prevalence of their associated phenotypes, defining what they term the ‘progeria phenome'. “In this study, we have utilized phenome explorations to define the phenotypes associated with progerias and to develop tools to diagnose patients and identify new progeroid syndromes.” The data were used to train a support vector machine that is available at https://www.mitodb.com and able to classify progerias based on phenotypes. Furthermore, this allowed the researchers to investigate the correlation of progeroid syndromes and syndromes with various pathogenesis using hierarchical clustering algorithms and disease networks. They detected that ataxia-telangiectasia like disorder 2, spastic paraplegia 49 and Meier-Gorlin syndrome display strong association to progeroid syndromes, thereby implying that the syndromes are previously unrecognized progerias. “In conclusion, our study has provided tools to evaluate the likelihood of a syndrome or patient being progeroid. This is a considerable step forward in our understanding of what constitutes a premature aging disorder and how to diagnose them.” DOI - https://doi.org/10.18632/aging.205537 Corresponding author - Morten Scheibye-Knudsen - mscheibye@sund.ku.dk Sign up for free Altmetric alerts about this article - https://aging.altmetric.com/details/email_updates?id=10.18632%2Faging.205537 Subscribe for free publication alerts from Aging - https://www.aging-us.com/subscribe-to-toc-alerts Keywords - aging, progeria, premature aging, phenome, clinical phenotype About Aging-US Launched in 2009, Aging-US publishes papers of general interest and biological significance in all fields of aging research and age-related diseases, including cancer—and now, with a special focus on COVID-19 vulnerability as an age-dependent syndrome. Topics in Aging-US go beyond traditional gerontology, including, but not limited to, cellular and molecular biology, human age-related diseases, pathology in model organisms, signal transduction pathways (e.g., p53, sirtuins, and PI-3K/AKT/mTOR, among others), and approaches to modulating these signaling pathways. Please visit our website at https://www.Aging-US.com​​ and connect with us: Facebook - https://www.facebook.com/AgingUS/ X - https://twitter.com/AgingJrnl Instagram - https://www.instagram.com/agingjrnl/ YouTube - https://www.youtube.com/@AgingJournal LinkedIn - https://www.linkedin.com/company/aging/ Pinterest - https://www.pinterest.com/AgingUS/ Spotify - https://open.spotify.com/show/1X4HQQgegjReaf6Mozn6Mc Media Contact 18009220957 MEDIA@IMPACTJOURNALS.COM

Sammy Basso"Antenorea"1 - Il Consigliere di PriamoRonzani Editorewww.ronzanieditore.itSammy Basso entra nella mente dei personaggi, svelandone passioni e desideri e creando un affresco su temi universali che affondano le loro radici nella parte più profonda dell'animo umano in cui tutti noi possiamo riconoscerci.Quando gli Achei giungono alle spiagge della Troade, Antenore ha già più anni alle spalle di quanti gliene rimangono da vivere. Fautore della pace, anziano saggio di Troia, dovrà mettere in gioco la sua intera esistenza per una missione più grande di quella che un solo uomo può portare a termine. Diviso tra la fedeltà a Re Priamo, suo amico fidato, che sembra non essere più in grado di tenere unita la città, e il senso di ciò che è giusto, dovrà mettere da parte ogni principio per compiere il suo dovere verso la Patria. E mentre i suoi figli scendono in battaglia a fianco di eroi come Ettore ed Enea, ed incrociano le spade contro i micidiali Achille e Diomede, Antenore intraprenderà un lungo viaggio, lontano dalle sicure pendici del Monte Ida, per richiamare a sé potenti alleati e antichi nemici in grado di rovesciare le sorti della città. Tra pericoli, intrighi di corte, vecchi rancori o amicizie dai contorni non ben definiti, Antenore si troverà a capeggiare una quinta colonna di audaci, con il sostegno della sua famiglia e l'appoggio assoluto del popolo degli Eneti. Dopo dieci anni di battaglia, è giunto il momento di decretare la vittoria o la completa distruzione di Troia, in un mondo antico, dove fedeltà e tradimento si intrecciano. Antenore si appresta a vivere gli ultimi atti di una guerra totale, una guerra che nemmeno gli dèi si sottraggono dal combattere. Attraverso la narrazione romanzata di un mito, espressione di una struttura senza tempo della psiche, Sammy Basso entra nella mente dei personaggi, svelandone passioni e desideri e creando un affresco su temi universali che affondano le loro radici nella parte più profonda dell'animo umano in cui tutti noi possiamo riconoscerci.Sammy Basso, classe 1995, nato a Schio, in provincia di Vicenza. Laureato in Scienze Naturali e Biologia Molecolare all'Università di Padova, è affetto dalla nascita da Progeria di Hutchinson-Gilford, motivo per cui, fin da bambino, è impegnato nella divulgazione scientifica e nel sostegno alla ricerca verso questa malattia. Per tale impegno, nel 2019 è stato nominato Cavaliere all'Ordine al Merito della Repubblica italiana. Ricercatore e consulente scientifico per professione, è sempre stato affascinato dalla mitologia, dalla storia e dalle tradizioni dei popoli, passione dalla quale è nato questo suo primo scritto che vuole raccontare in maniera romanzata, l'etnogenesi del popolo veneto, di cui, essendo italiano, si sente parte per nascita e per cultura. È inoltre coautore, con Valentino Baron, di Scolpire il corpo, scoprire l'anima (Biblos, 2014) e autore de Il Viaggio di Sammy (Rizzoli 2015).IL POSTO DELLE PAROLEascoltare fa pensarewww.ilpostodelleparole.itDiventa un supporter di questo podcast: https://www.spreaker.com/show/tracce-di-il-posto-delle-parole_1/support.

David Liu is an gifted molecular biologist and chemist who has pioneered major refinements in how we are and will be doing genome editing in the future, validating the methods in multiple experimental models, and establishing multiple companies to accelerate their progress.The interview that follows here highlights why those refinements beyond the CRISPR Cas9 nuclease (used for sickle cell disease) are vital, how we can achieve better delivery of editing packages into cells, ethical dilemmas, and a future of somatic (body) cell genome editing that is in some ways is up to our imagination, because of its breadth, over the many years ahead. Recorded 29 November 2023 (knowing the FDA approval for sickle cell disease was imminent)Annotated with figures, external links to promote understanding, highlights in bold or italics, along with audio links (underlined)Eric Topol (00:11):Hello, this is Eric Topol with Ground Truths and I'm so thrilled to have David Liu with me today from the Broad Institute, Harvard, and an HHMI Investigator. David was here visiting at Scripps Research in the spring, gave an incredible talk which I'll put a link to. We're not going to try to go over all that stuff today, but what a time to be able to get to talk with you about what's happening, David. So welcome.David Liu (00:36):Thank you, and I'm honored to be here.Eric Topol (00:39):Well, the recent UK approval (November 16, 2023) of the first genome editing after all the years that you put into this, along with many other colleagues around the world, is pretty extraordinary. Maybe you can just give us a sense of that threshold that's crossed with the sickle cell and beta thalassemia also imminently [FDA approval granted for sickle-cell on 8 December 2023] likely to be getting that same approval here in the U.S.David Liu (01:05):Right? I mean, it is a huge moment for the field, for science, for medicine. And just to be clear and to give credit where credit is due, I had nothing to do with the discovery or development of CRISPR Cas9 as a therapeutic, which is what this initial gene editing CRISPR drug is. But of course, the field has built on the work of many scientists with respect to CRISPR Cas9, including Emmanuel Charpentier and Jennifer Doudna and George Church and Feng Zhang and many, many others. But it is, I think surprisingly rapid milestone in a long decade's old effort to begin to take some control over our genetic features by changing DNA sequences of our choosing into sequences that we believe will offer some therapeutic benefit. So this initial drug is the CRISPR Therapeutics /Vertex drug. Now we can say it's actually a drug approved drug, which is a Crispr Cas9 nuclease programmed to cut a DNA sequence that is involved in silencing fetal hemoglobin genes. And as you know, when you cut DNA, you primarily disrupt the sequence that you cut. And so if you disrupt the DNA sequence that is required for silencing your backup fetal hemoglobin genes, then they can reawaken and serve as a way to compensate for adult hemoglobin genes like the defective sickle cell alleles that sickle cell anemia patients have. And so that's the scientific basis of this initial drug.Eric Topol (03:12):So as you aptly put— frame this—this is an outgrowth of about a decade's work and it was using a somewhat constrained, rudimentary form of editing. And your work has taken this field considerably further with base and prime editing whereby you're not just making a double strand cut, you're doing nicks, and maybe you can help us understand this next phase where you have more ways you can intervene in the genome than was possible through the original Cas9 nucleases.David Liu (03:53):Right? So gene editing is actually a several decades old field. It just didn't quite become as popular as it is now until the discovery of CRISPR nucleases, which are just much easier to reprogram than the previous programmable zinc finger or tail nucleases, for example. So the first class of gene editing agents are all nuclease enzymes, meaning enzymes that take a piece of DNA chromosome and literally cut it breaking the DNA double helix and cutting the chromosome into two pieces. So when the cell sees that double strand DNA break, it responds by trying to get the broken ends of the chromosome back together. And we think that most of the time, maybe 90% of the time that end joining is perfect, it just regenerates the starting sequence. But if it regenerates the starting sequence perfectly and the nuclease is still around, then it can just cut the rejoin sequence again.(04:56):So this cycle of cutting and rejoining and cutting and rejoining continues over and over until the rejoining makes the mistake that changes the DNA sequence at the cut site because when those mistakes accumulate to a point that the nuclease no longer recognizes the altered sequence, then it's a dead end product. That's how you end up with these disrupted genes that result from cutting a target DNA sequence with a nuclease like Crispr Cas9. So Crispr Cas9 and other nucleases are very useful for disrupting genes, but one of their biggest downsides is in the cells that are most relevant to medicine, to human therapy like the cells that are in your body right now, you can't really control the sequence of DNA that comes out of this process when you cut a DNA double helix inside of a human cell and allow this cutting and rejoining process to take place over and over again until you get these mistakes.(06:03):Those mistakes are generally mixtures of insertions and deletions that we can't control. They are usually disruptive to a gene. So that can be very useful when you're trying to disrupt the function of a gene like the genes that are involved in silencing fetal hemoglobin. But if you want to precisely fix a mutation that causes a genetic disease and convert it, for example, back into a healthy DNA sequence, that's very hard to do in a patient using DNA cutting scissors because the scissors themselves of course don't include any information that allows you to control what sequence comes out of that repair process. You can add a DNA template to this cutting process in a process called HDR or Homology Directed Repair (figure below from the Wang and Doudna 10-year Science review), and sometimes that template will end up replacing the DNA sequence around the cut site. But unfortunately, we now know that that HDR process is very inefficient in most of the types of cells that are relevant for human therapy.(07:12):And that explains why if you look at the 50 plus nuclease gene editing clinical trials that are underway or have taken place, all but one use nucleases for gene disruption rather than for gene correction. And so that's really what inspired us to develop base editing in 2016 and then prime editing in 2019. These are methods that allow you to change a DNA sequence of your choosing into a different sequence of your choosing, where you get to specify the sequence that comes out of the editing process. And that means you can, for the first time in a general way, programmable change a DNA sequence, a mutation that causes a genetic disease, for example, into a healthy sequence back into the normal, the so-called wild type sequence, for example. So base editors work by actually performing chemistry on an individual DNA base, rearranging the atoms of that base to become a different base.(08:22):So base editors can efficiently and robustly change A's into G's G's, into A's T's into C's or C's into T's. Those four changes. And those four changes for interesting biochemical reasons turn out to be four of the most common ways that our DNA mutates to cause disease. So base editors can be used and have been used in animals and now in six clinical trials to treat a wide variety of diseases, high cholesterol and sickle cell disease, and T-cell leukemia for example. And then in prime editors we developed a few years later to try to address the types of changes in our genomes that caused genetic disease that can't be fixed with a base editor, for example. You can't use a base editor to efficiently and selectively change an A into a T. You can't use a base editor to perform an insertion of missing DNA letters like the three missing letters, CTT, that's the most common cause of cystic fibrosis accounting for maybe 70% of cystic fibrosis patients.(09:42):You can't use a base editor to insert missing DNA letters like the missing TATC. That is the most common cause of Tay-Sachs disease. So we develop prime editors as a third gene editing technology to complement nucleases and base editors. And prime editors work by yet another mechanism. They don't, again, they don't cut the DNA double helix, at least they don't cause that as the required mechanism of editing. They don't perform chemistry on an individual base. Instead, prime editors take a target DNA sequence and then write a new DNA sequence onto the end of one of the DNA strands and then sort of help the cell navigate the DNA repair processes to have that newly written DNA sequence replace the original DNA sequence. And in the process it's sort of true search and replace gene editing. So you can basically take any DNA sequence of up to now hundreds of base pairs and replace it with any other sequence of your choosing of up to hundreds of base pairs. And if you integrate prime editing with other enzymes like recombinase, you can actually perform whole gene integration of five or 10,000 base pairs, for example, this way. So prime editing's hallmark is really its versatility. And even though it's the newest of the three ways that have been robustly used to edit mammalian cells and rescue animal models of genetic disease, it is arguably the most versatile by far,Eric Topol (11:24):Right? Well, in fact, if you just go back to the sickle cell story as you laid out the Cas9 nuclease, that's now going into commercial approval in the UK and the US, it's more of a blunt instrument of disruption. It's indirect. It's not getting to the actual genomic defect, whereas you can do that now with these more refined tools, these new, and I think that's a very important step forward. And that is one part of some major contributions you've made. Of course, there are many. One of the things, of course, that's been a challenge in the field is delivery whereby we'd like to get this editing done in many parts of the body. And of course it's easy, perhaps I put that in quotes, easy when you're taking blood out and you're going to edit those cells and them put it back in. But when you want to edit the liver or the heart or the brain, it gets more challenging. Now, you did touch on one recent report, and this is of course the people with severe familial hypercholesterolemia. The carriers that have LDL cholesterol several hundred and often don't respond to even everything we have on the shelf today. And there were 10 people with this condition that was reported just a few weeks ago. So that's a big step forward.David Liu (13:09):That was also a very exciting milestone. So that clinical trial was led by scientists at Verve Therapeutics and Beam Therapeutics, and it was the first clinical readout of an in vivo base editing clinical trial. There was previously at the end of 2022, the first clinical readout of an ex vivo base editing clinical trial using CAR T cells, ex vivo  base edited to treat T-cell leukemia in pediatric patients in the UK. Ffigure from that NEJM paper below). But as you point out, there are only a small fraction of the full range of diseases that we'd like to treat with gene editing and the types of cells we'd like to edit that can be edited outside of the body and then transplanted back into the body. So-called ex vivo editing. Basically, you can do this with cells of some kind of blood lineage, hematopoietic stem cells, T-cells, and really not much else in terms of editing outside the body and then putting back into the body as you point out.(14:17):No one's going to do that with the brain or the heart anytime soon. So what was very exciting about the Verve Beam clinical trial is that Verve sought to disrupt the function of PCSK9 storied, gene validated by human genetics, because there are humans that naturally have mutations in PCSK9, and they tend to have much lower incidences of heart disease because their LDL, so-called bad cholesterol, is much lower than it would otherwise be without those mutations. So Verve set out to simply disrupt PCSK9 through gene editing. They didn't care whether they used a nuclease or a base editor. So they compared side-by-side the results of disrupting PCSK9 with Cas9 nuclease versus disrupting it by installing a precise single letter base edit using an adenine base editor. And they actually concluded that the base editor gave them higher efficacy and fewer unwanted consequences.(15:28):And so they went with the base editor. So the clinical trial that just read out were patients treated in New Zealand, in which they were given a lipid nanoparticle mRNA complex of an adenine base editor programmed with a guide RNA to install a specific A to G mutation in a splice site in PCSK9 that inactivates the gene so that it can no longer make functional PCSK9 protein. And the exciting result that read out was that in patients that receive this base editor, a single intravenous injection of the base editor lipid nanoparticle complex, as you know, lipid nanoparticles very efficiently go to the liver. In most cases, PCSK9 was edited in the liver and the result was substantial reduction in LDL cholesterol levels in these patients. And the hope and the anticipation is that that one-time treatment should be durable, should be more or less permanent in these patients. And I think while the patients who are at highest risk of coronary artery disease because of their genetics that give them absurdly high LDL cholesterol levels, that makes the most sense to go after those patients first because they are at extremely high risk of heart attacks and strokes. If the treatment proves to be efficacious and safe, then I think it's tempting to speculate that a larger and larger population of people who would benefit from having lower LDL cholesterol levels, which is probably most people, that they would also be candidates for this kind of therapy.Eric Topol (17:22):Yeah, no, it's actually pretty striking how that could be achieved. And I know in the primates that were done prior to the people in New Zealand, there was a very durable effect that went on well over I think a year or even two years. So yeah, that's right. Really promising. So now that gets us to a couple of things. One of them is the potential for off-target effects. As you've gotten more and more with these tools to be so precise, is the concern that you could have off-target effects just completely, of course inadvertent, but potential for other downstream in time known unknowns, if you will. What are your thoughts about that?David Liu (18:15):Yeah, I have many thoughts on this issue. It's very important the FDA and regulatory bodies are right to be very conservative about off-target editing because we anticipate those off targets will be permanent, those off-target edits will be permanent. And so we definitely have a responsibility to minimize adding to the mutational burden that all humans have as a function of existing on this planet, eating what we eat, being bombarded by cosmic rays and sunlight and everything else. But I think it's also important to put off-target editing into some context. One context is I think virtually every substance we've ever put into a person, including just about every medicine we've ever put into a person, has off-target effects, meaning modulates the function of biological molecules other than the intended target. Of course, the stakes are higher when those are gene editing agents because those modifications can be permanent.(19:18):I think most off-target edits are very likely to have no consequence because most of our genome, if you mutate in the kinds of small ways like making an individual base pair change for a base editor are likely to have no consequence. We sort of already know this because we can measure the mutational burden that we all face as a function of living and it's measurable, it's low, but measurable. I've read some papers that estimate that of the roughly 27 trillion [should be ~37] cells in an adult person, that there are billions and possibly hundreds of billions of mutations that accumulate every day in those 27 [37] trillion cells. So our genomes are not quite the static vaults that we'd like to think that they are. And of course, we have already purposefully given life extending medicines to patients that work primarily by randomly mutating their genomes. These are chemotherapeutic agents that we give to cancer patients.(20:24):So I think that history of giving chemotherapeutic agents, even though we know those agents will mess up the genomes of these patients and potentially cause cancer far later down the road, demonstrates that there are risk benefit situations where the calculus favors treatment, even if you know you are causing mutations in the genome, if the condition that the patient faces and their prognosis is sufficiently grave. All that said, as I mentioned, we don't want to add to the mutational burden of these patients in any clinically relevant way. So I think it is appropriate that the early gene editing clinical candidates that are in trials or approved now are undergoing lots and lots of scrutiny. Of course, doing an off-target analysis in an animal is of limited value because the animal's genome is quite different than the human genome. So the off targets won't align, but doing off-target analysis in human cells and then following up these patients for a long time to confirm hopefully that there isn't clinical evidence of quality of life or lifespan deterioration caused by off-target editing, that's all very, very important.(21:55):I also think that people may not fully appreciate that on target editing consequences also need to be examined and arguably examined with even more urgency than off-target edits. Because when you are cutting a chromosome at a target site with a nucleus, for example, you generate a complex mixture of different products of different DNA sequences that come out, and the more sequences you sequence, the more different products you realize are generated. And I don't think it's become routine to try to force the companies, the clinical groups that are running these trials to characterize the top 1000 on target products for their biological consequence. That would be sort of impractical to do and would probably slow down greatly the benefit of these early nuclease clinical trials for patients. But those are actually the products that are generated with much higher frequency typically than the off-target edits. And that's part of why I think it makes more sense from a clinical safety perspective to use more precise gene editing methods like base editing and prime editing where we know the products that are generated are mostly the products that we want are not uncontrolled mixtures of different deletion and insertion products.(23:27):So I think paying special attention to the on-target products, which are generated typically 70 to 100% of the time as opposed to the off targets which may be generated at a 0.1 to 1% level and usually not that many at that level once it reaches a clinical candidate. I think that's all important to do.Eric Topol (23:51):You've made a lot of great points there and thanks for putting that in perspective. Well, let's go on to the delivery issue. You mentioned nanoparticles, viral vectors, and then you've come up with small virus-like neutered viruses if you will. I think a company Nvelop that you've created to push on that potential. What are your thoughts about where we stand since you've become a force for coming up with much better editing, how about much better and more diverse delivery throughout the body? What are your thoughts about that?David Liu (24:37):Yeah, great. Great question. I think one of the legacies of gene editing is and will be that it inspired many more scientists to work hard on macromolecular delivery technologies. All of these gene editing agents are macromolecules, meaning they're proteins and or nucleic acids. None of them are small molecules that you can just pop a pill and swallow. So they all require special technologies to transfer the gene editing agent from outside of the cell into the cell. And the fact that taking control of our genetic features has become such a popular aspiration of medicine means that there's a lot of scientists as measured, most importantly by the young scientists, by the graduate students and the postdocs and the young professors of which I'm no longer one sadly, who have decided that they're going to devote a big part of their program to delivery. So you summarized many of the clinically relevant, clinically validated delivery technologies already, somewhat sadly, because if there were a hundred of these technologies, you probably wouldn't need to ask this question. But we have lipid nanoparticles that are particularly good at delivering messenger RNA, that was used to deliver the covid vaccine into billions of people. Now also used to deliver, for example, the adenine base editor mRNA into the livers of those hypercholesterolemia patients in the Verve/Beam clinical trial.(26:20):So those lipid nanoparticles are very well matched for gene editing delivery as long as it's liver. And they also are particularly well matched because their effect is transient. They cause a burst of gene editing agents to be produced in the liver and then they go away. The gene editing agents can't persist, they can't integrate into the genome despite what some conspiracy theorists might worry about. Not that you've had any encounter with any of those people. I'm sure that's actually what you want for a gene editing agent. You ideally want a delivery method that exposes the cell only for the shortest amount of time needed to make the on-target edit at the desired level. And then you want the gene editing agent to disappear and never come back because it shouldn't need to. DNA edits to our genome for durable cells should be permanent. So that's one method.(27:25):And then there are a variety of other methods that researchers have used to deliver to other cells, but they each carry some trade-offs. So if you're trying to edit hematopoietic stem cells, you can take them out of the body. Once they're out of the body, you have many more methods you can use to deliver efficiently into them. You can electroporated messenger, RNA or even ribonuclear proteins. You can treat with lipids or viruses, you can edit and then put them back into the body. But as you already mentioned, that's sort of a unique feature of blood cells that isn't applicable to the heart or the brain, for example, or the eyes. So then that brings us to viral vectors. There are a variety of clinically validated viral methods for delivery. AAV— adeno associated virus— is probably the most diverse, most relevant, and one of the best tolerated viral delivery methods. The beauty of AAV is that it can deliver to a variety of tissues. AAV can deliver into spinal cord neurons, for example, into retinal cells, into the heart, into the liver, into a few other tissues as well.(28:48):And that diversity of being able to choose AAV capsids that are known to get into the types of tissues that you're trying to target is a great strength of that approach. One of the downsides of AAV for gene editing agents is that their delivery tends to be fairly durable. You can engineer AAVs into next generation capsids that sort of get rid of themselves or the gene editing agents get rid of themselves. But classic AAV tends to stay around in patients for a long time, at least months, for example, and possibly years. And we also don't yet have a good way, clinically validated way of re-dosing AAV. And once you administer high doses of AAV in a patient that tends to provoke high-titer, neutralizing antibodies against those AAVs making it difficult to then come back six months or a year later and dose again with an AAV.(29:57):So researchers are on the bright side, have become very good at engineering and evolving in the laboratory next generation AAVs that can go to greater diversity issues that can be more potent. Potency is important because if you can back off the dose, maybe you can get around some of these immunogenicity issues. And I think we will see a renaissance with AAV that will further broaden its clinical scope. Even though I appreciate that the decisions by a couple large pharma companies to sort of pull out of using AAV for gene therapy seemed to cause people to, I think prematurely conclude that AAV has fallen out of favor. I think for gene therapy, it's quite different than gene editing. Gene therapy, meaning you are delivering a healthy copy of the gene, and you need to keep that healthy copy of the gene in the patient for the rest of the patient's life.(30:59):That's quite different than gene editing where you just need the edit to take place over days to weeks, and then you want the editing agent to actually go away and you never want to come back. I think AAV will used to deliver gene editing agents will avoid some of the clinical challenges like how do we redose? Because you shouldn't need to redose if the gene editing clinical trial proceeds as you hope. And then you mentioned these virus-like particles. So we became interested in virus-like particles as other labs have because they offer some of the best strengths of non-viral and viral approaches like non-viral approaches such as LMPs. They deliver the transient form of a gene editing agent. In fact, they can deliver the fully assembled protein RNA complex of a base editor or a prime editor or a CRISPR nuclease. So in its final form, and that means the exposure of the cell to the editing agent is minimized.(32:15):You can treat with these virus-like particles, deliver the protein form of these gene editing agents, allow the on-target site to get edited. And then since the half-life of these proteins tends to be very small, roughly 24 hours for example, by a week later, there should be very little of the material left in the animal or prospectively in the patient virus-like particles, as you call them, neutered viruses, they lack viral DNA or RNA. They don't have the ability to integrate a virus's genome into the human genome, which can cause some undesired consequences. They don't randomly introduce DNA into our genomes, therefore, and they disappear more transiently than viruses like AAV or adenoviruses or other kinds of lentiviruses that have been used in the clinic. So these virus-like particles or VLP offer really some of the best strengths on paper at least of both viral and non-viral delivery.(33:30):Their limitation thus far has been that there really haven't been examples of potent in vivo delivery of cargoes like gene editing agents using virus-like particles. And so we recently set out to figure out why, and we identified several bottlenecks, molecular bottlenecks that seemed to be standing in the way of virus-like particles, doing a much more efficient job at delivering inside of an animal. (Figure from that paper below.) And we engineered solutions to each of these first three molecular bottlenecks, and we've identified a couple more since. And that resulted in what we call VLPs engineered virus-like particles. And as you pointed out, Keith Joung and myself, co-founded a company called Nvelop to try to bring these technologies and other kinds of molecular delivery technologies, next generation delivery technologies to patients.Eric Topol (34:28):Well, that gets me to the near wrapping up, and that is the almost imagination you could use about where all this can go in the future. Recently, I spoke to a mutual friend Fyodor Urnov, who talked about wouldn't it be amazing if for people with chronic pain you could just genome edit neurons their spinal cord? As you already touched on recently, Jennifer Doudna, who we both know talked about editing to prevent Alzheimer's disease. Well, that may be a little far off in time, but at least people are talking about these things that is not, we're not talking about germline editing, we're just talking about somatic cell and being able to approach conditions that have previously been either unapproachable or of limited success and potential of curing. So this field continues to evolve and you and all your colleagues are a big part of how this has evolved as quickly as it has. What are your thoughts about, are there any bounds to the potential in the longer term for genome editing? Right.David Liu (35:42):It's a great question because all of the early uses of gene editing in people are appropriately focused on people who are at dire risk of having shorter lives or very poor quality of life as it should be for a new kind of therapeutic because the risks are high until we continue to validate the clinical benefit of these gene editing treatments. And therefore we want to choose patients the highest that face the poorest prognosis where the risk benefit ratio favors treatment as strongly as possible. But your question, I think very accurately highlights that our genome and changes to it determine far more than whether you have a serious genetic disorder like Sickle Cell Disease or Progeria or Cystic Fibrosis or Familial Hypercholesterolemia or Tay-Sachs disease. And being able to not just correct mutations that are associated with devastating genetic disorders, but perhaps take control of our genomes in more sophisticated way that you pointed out two examples that I think are very thought provoking to treat chronic pain permanently to lower the risk of horrible diseases that affect so many families devastating to economies worldwide as well, like Alzheimer's disease, Parkinson's disease, the genetic risk factors that are the strongest genetic determinants of diseases like Alzheimer's disease are actually, there are several that are known already.(37:36):And an interesting possibility for the future, it isn't going to happen in the next few years, but it might happen within the next 10 or 20 years, might be to use gene editing to precisely change some of those most grievous alleles that are risk factors for Alzheimer's disease like a apoE4, to change them to the genetic forms that have normal or even reduced risk for Alzheimer's disease. That's a very tough clinical trial to run, but I'd say not any tougher than the dozens of most predominantly failed Alzheimer's clinical trials that have probably collectively accounted for hundreds of billions of dollars of investmentEric Topol (38:28):Easily.David Liu (38:31):And all of that speaks to the fact that Alzheimer's disease, for example, is enormous burden on society by every measure. So it's worth investing and major resources and taking major risks to try to create perhaps preventative treatments that just lower our risk globally. Getting there will require that these pioneering early clinical trials for gene editing are smashing successes. I'm optimistic that they will be, there will be bumps in the road because there always are bumps in the road. There will be patients who have downturns in their health and everyone will wonder whether those patients had a downturn because of a gene editing treatment they received. And ascertaining whether that's the case will be very important. But as these trials continue to progress, and as they continue hopefully on this quite positive trajectory to date, it's tempting to imagine a future where we can use precise gene editing methods. For example, you can install a variety using prime editing, a variety of alleles that naturally occur in people that reduce the risk of Alzheimer's disease or Parkinson's disease like the mutation that 0.1% of Icelandic people and almost nobody else has in amyloid precursor protein changing alanine 673 to threonine (A673T).(40:09):It is very thought provoking, and I don't think society is ready now to take that step, but I think if things continue to proceed on this promising trajectory, it's inevitable because arguably, the defining trait of our species is that we use every ounce of our talents and our gifts and our resources and our creativity to try to improve our lives and those of our children. And I don't think if we have ways of treating genetic diseases or even of reducing grievous genetic disease risk, that we will be able to sit on our hands and not take steps towards that kind of future solon as those technologies continue to be validated in the clinic as being safe and efficacious. It's, I teach a gene editing class and I walk them through a slippery slope at the end of five ethics cases, starting with progeria, where most people would say having a single C of T mutation in one gene that you, by definition didn't inherit from mom or dad.(41:17):It just happened spontaneously. That gives you an average lifespan of 14 and a half years and strongly affects other aspects of the quality of your life and your family's life that if you can change as we did in animals that T back into a C and correct the disease and rescue many of the phenotypes and extend lifespan, that that's an ethical use of gene editing. Treating genetic deafness is the second case. It's a little bit more complicated because many people in the deaf community don't view deafness as a disability. It's at least a more subjective situation than progeria. But then there are other cases like changing apoE4 to apoE3 or even apoE2 with the lower than normal risk of Alzheimer's disease, or installing that Icelandic mutation and amyloid precursor protein that substantially lowers risk of Alzheimer's disease. And then finally, you can, I always provoke a healthy debate in the class at the end by pointing out that in the 1960s, one of the long distance cross country alpine skiing records was set by a man who had a naturally occurring mutation in his EPO receptor, his erythropoietin receptor, so that his body always thought he was on EPO as if he were dosing on EPO, although that was of course before the era of EPO dosing was really possible, but it was just a naturally occurring mutation in this case, in his family.(42:48):And when I first started teaching this class, most students could accept using gene editing to treat progeria, but very few were willing to go even past that, even to genetic deafness, certainly not to changing a ApoE risk factors for Alzheimer's. Nowadays, I'd say the 50% vote point is somewhere between case three and case four, most people are actually say, yeah, especially since they have family members who've been through Alzheimer's disease. If they are a apoE4, some of them are a apoE4/apoE4 [homozygotes], why not change that to a apoE3 or even an ApoE2 or as one student challenged the class this year, if you were born with a apoE2, would you want to change it to a ApoE3 so you could be more normal? Most people would say, no, there's no way I would do that.(43:49):And for the first time this year, there were one or two students who actually even defended the idea of putting in a mutation in erythropoietin receptor to increased increase their endurance under low oxygen conditions. Of course, it's also presumably useful if you ever, God forbid, are treated with a cancer chemotherapeutic. Normally you get erythropoietin to try to restore some, treat some of the anemia that can result, and this student was making a case, well, why wouldn't we? If this is a naturally occurring mutation that's been shown to benefit certain people doing certain things. I don't think that's a general societal view. And I am a little bit skeptical we'll ever get widespread acceptance of case number five. But I think all of it is healthy stimulates a healthy discussion around the surprisingly gentle continuum between disease treatment, disease prevention, and what some would call human improvement.And it used to be that even the word human improvement was sort of an anathema. I think now at least the students in my class are starting to rethink what does that really mean? We improving ourselves a number of ways genetically and otherwise by virtue of our lifestyles, by virtue of who we choose to procreate with. So it's a really interesting debate, and I think the rapid development and now clinical progression and now approval, regulatory approval of gene editing drugs will play a central role in this discussion.Eric Topol (45:38):No question. I mean, also just to touch on the switch from a apoE4 to apoE2, you would get a potential 2-fer of lesser risk for Alzheimer's and a longer lifespan. So I mean, there's a lot of things here. The thing that got me years ago, I mean, this is many years ago at a meeting with George Church and he says, we're going to just edit 60 genes and then we can do all sorts of xeno-pig transplants and forget the problem of donors. And it's happening now.David Liu (46:11):Yeah, I mean, he used a base editor to edit hundreds of genes at once, if not thousands ofEric Topol (46:16):That's why it's just, yeah, no, it's just extraordinary. And I think people need to be aware that opportunities here, as you say, with potential bumps along the way, unquestionably, is almost limitless. So this has been a masterclass thanks to you, David, in where we are, where we're headed in genome editing at a very extraordinary time where we've really seeing things click. And I just want to also add that you're going to be here with a conference in La Jolla in January, I think, on base and prime editing. Is that right? So for those who are listeners who are into this topic, maybe they can also hear the latest, I'm sure there'll be more between now and next. Well, several weeks from now at your, it's aDavid Liu (47:12):Conference on, it's the fifth international conference on base and prime editing and associated enzymes, the somewhat baroque name. And I will at least be giving a virtual talk there. It actually overlaps with the talk I'm giving at Rockefeller that time. Ah, okay, cool. But I'm speaking at the conference either in person or virtually.Eric Topol (47:34):Yeah. Well, anytime we get to hear from you and the field, of course it's enlightening. So thanks so much for joining. Thank youDavid Liu (47:42):For having me. And thank you also for all of your, I think, really important public service in connecting appropriately the ground truths about science and vaccines and other things to people. I think that's very much appreciated by scientists like myself.Eric Topol (48:00):Oh, thanks David.Thanks for listening, reading, and subscribing to Ground Truths. To be clear, this is a hybrid format, roughly alternating between analytical newsletters/essays and podcasts with exceptional people, attempting to achieve about 2 posts per week. It's all related to cutting-edge advances in life science, medicine, and information tech (A.I.)All content is free. If you wish to become a paid subscriber know that all proceeds go to Scripps Research. Get full access to Ground Truths at erictopol.substack.com/subscribe

Folk der har den utroligt sjældne genetiske sygdom progeria ældes 8 gange hurtigere end andre mennesker. Hvor tæt er vi på at behandle sygdommen og hvad ved vi egentligt om den?Køb biletterne her: https://videnskabeligtudfordret.dk/liveSupport the showHvis du vil være med til at optage live med os på Discord kan du støtte os på 10er og blive en af vores kernelyttere https://vudfordret.10er.appDu kan også tjekke vores webshop: bit.ly/vushop. Der er en hønsetrøje!Send os vanvittig videnskab eller stil et spørgsmål på facebook, Instagram eller vudfordret@gmail.comTak til Christian Eiming for disclaimer.Tak til Barometer-Bjarke for Gak-O-meteret.Husk at være dumme

In this edition of Ask The Doctor Executive Producer asks Buck viewer questions and some of his own. Discussed is continuous glucose monitoring for non-diabetics, cardiac arrest in young athletes, effectiveness of vibrating plates, human growth hormones, jet lag and melatonin. This is Part 2. Listen to episode 24 to hear part 1. 00:01:31 - Question about taking naps to make up for not enough sleep 00:03:06 - REM Sleep and Deep Non-REM Sleep 00:11:54 - Shift work is very detrimental to to health 00:13:11 - Question about reversing aging in cells 00:13:29 - David Sinclair's book Lifespan 00:15:30 - Stem cells and aging 00:17:22 - Genetically mutated rodents with Progeria and  the Yamanaka Factor 00:21:59 - Methylation and the Epigenome 00:22:37 - Biological clocks and changes in the Epigenome 00:23:20 - Sinclair's study on using a drug cocktail to reverse the cellular aging patterns in aged human cells

A new research paper was published in Aging (listed by MEDLINE/PubMed as "Aging (Albany NY)" and "Aging-US" by Web of Science) Volume 15, Issue 12, entitled, “Hepatic hydrogen sulfide levels are reduced in mouse model of Hutchinson-Gilford progeria syndrome.” Hutchinson-Gilford progeria syndrome (HGPS) is a rare human disease characterized by accelerated biological aging. Current treatments are limited, and most patients die before 15 years of age. Hydrogen sulfide (H2S) is an important gaseous signaling molecule that is central to multiple cellular homeostasis mechanisms. Dysregulation of tissue H2S levels is thought to contribute to an aging phenotype in many tissues across animal models. Whether H2S is altered in HGPS is unknown. In a new study, researchers Stephen E. Wilkie, Diana E. Marcu, Roderick N. Carter, Nicholas M. Morton, Susana Gonzalo, and Colin Selman from the University of Glasgow, University of Edinburgh, Saint Louis University, and Karolinska Institute investigated hepatic H2S production capacity and transcript, protein and enzymatic activity of proteins that regulate hepatic H2S production and disposal in a mouse model of HGPS (G609G mice, mutated Lmna gene equivalent to a causative mutation in HGPS patients). “This study was designed and undertaken due to the lack of understanding in the mechanistic targets of known treatments against HGPS and considering the positive association between H2S and longevity in model organisms.” Here, the researchers employed the HGPS mouse model G609G to test the hypothesis that, in contrast to anti-aging increases in H2S production, the accelerated aging typical of progeroid mice is associated with reduced hepatic H2S production. G609G mice were maintained on either regular chow (RC) or high fat diet (HFD). HFD has been previously shown to significantly extend lifespan of G609G mice, and compared to wild type (WT) mice maintained on RC. RC-fed G609G mice had significantly reduced hepatic H2S production capacity relative to WT mice, with a compensatory elevation in mRNA transcripts associated with several H2S production enzymes, including cystathionine-γ-lyase (CSE). H2S levels and CSE protein were partially rescued in HFD fed G609G mice. The data acquired here confirmed some aspects of the relevance of H2S in HGPS but raises more questions about the specific mechanisms at play. “Regardless, the work presented here addresses an area of research that remains critically understudied and provides new evidence that the accelerated ageing phenotype observed in HGPS may be partially explained by a reduction in hepatic H2S levels.” DOI - https://doi.org/10.18632/aging.204835 Corresponding authors - Colin Selman - colin.selman@glasgow.ac.uk, and Stephen E. Wilkie - stephen.wilkie@ki.se Sign up for free Altmetric alerts about this article - https://aging.altmetric.com/details/email_updates?id=10.18632%2Faging.204835 Subscribe for free publication alerts from Aging - https://www.aging-us.com/subscribe-to-toc-alerts Keywords - aging, progeria, hydrogen sulfide, high-fat diet, ageing, lamin A About Aging-US: Launched in 2009, Aging publishes papers of general interest and biological significance in all fields of aging research and age-related diseases, including cancer—and now, with a special focus on COVID-19 vulnerability as an age-dependent syndrome. Topics in Aging go beyond traditional gerontology, including, but not limited to, cellular and molecular biology, human age-related diseases, pathology in model organisms, signal transduction pathways (e.g., p53, sirtuins, and PI-3K/AKT/mTOR, among others), and approaches to modulating these signaling pathways. Please visit our website at www.Aging-US.com​​ and connect with us on social media. MEDIA@IMPACTJOURNALS.COM

KSQD 5-06-2023: Advances in anti-aging drugs; A survey of many brain-computer interface devices available and being developed

This podcast is being published on April 30, 2023, and is dedicated to the memory of Rabbi Harold Kushner, of blessed memory, who died on April 28, 2023 at the age of 88. Rabbi Kushner is best known for his best selling book, When Bad Things Happen to Good People. He wrote a total of 14 books, many of which were also best sellers. While known world-wide for his writing and lecturing, Rabbi Kushner was a beloved pulpit rabbi and served 25 years as the spiritual leader of Temple Israel, a Conservative synagogue in  Natick, MA and many more years as their Rabbi Laureate. For more information about Rabbi Kushner's illustrious career, see his New York Times obituary. In January 2014, Rabbi Kushner gave a lecture at Temple Torah (now Temple Torat Emet) in Boynton Beach, FL, where Rabbi Ed Bernstein was then serving as spiritual leader. A few months earlier, Rabbi Bernstein and Rabbi Kushner both attended the United Synagogue of Conservative Judaism Biennial Convention in Baltimore, MD.  During the convention, they recorded a brief interview that served as a teaser for Rabbi Kushner's upcoming visit to Boynton Beach. The conversation touched on When Bad Things Happen to Good People as well as two other books by Rabbi Kushner, When Children Ask About God and Living a Life That Matters. Rabbi Kushner had a gift for speaking and writing about sophisticated subjects in an accessible way. In this 10-minute interview a decade later, he distills complex issues in  clear and vivid terms and in such little time.  Here is Rabbi Ed Bernstein's conversation with Rabbi Harold Kushner on October 13, 2013, which you may also find on YouTube. May the  memory of Rabbi Harold Kushner be for a blessing.Rabbi Bernstein is grateful to Barbara and Jay Wiston for introducing him to Rabbi Kushner and for envisioning Rabbi Kushner's public lecture in Boynton Beach in 2014.           

Seriah is joined by Red Pill Junkie and Chris Ernst to discuss, for the first time ever, the Roswell incident. Topics include Nick Redfern, “Body Snatchers in the Desert”, Jeremy Corbell, George Knapp, the phantom of Baghdad, military technology, Tom DeLonge, video fakery, Guillermo del Toro, John Keel, Fu-Go balloons, Bill Moore and Charles Berlitz, “The Roswell Incident”, “The Day After Roswell”, Douglas Dietrich, Japanese POWs, Imperial Japan's germ warfare program and Unit 731, government information security tests, Congressional Committee On Human Radiation Experiments, the Imperial Japanese equivalent to Operation Paper Clip, high-altitude human testing, progeria syndrome, Maria the black widow, Al Barker, Bill Salter, UK Ministry of Defense, Roswell extraterrestrial story as disinformation, U.S. government human experimentation 1944-74, Nueralink, cold war psyops, Annie Jacobsen, Area 51, Josef Mengele, Joseph Stalin, Lieutenant-Colonel Jesse Marcel, balloon materials, mis-identified camera slides, destroyed documents, the MJ-12 documents, secrecy and obstruction within the government, UAPs, lunar landing hoax allegations, the Manhattan Project, Soviet espionage, Communist China, war-time secrecy, the Wuhan covid lab release theory, the 9/11 Building 7 incident, the magic bullet theory in the JFK assassination, power vs, truth, U.S. Air Force Office of Public Affairs, U.S. Department of Energy, alien autopsy films, Ray Santilli, contact lenses for nuclear pilots, Philip Mantle, an experimental aircraft crash near White Sands NM, Jacques Vallee and Paola Harris, atomic aircraft, Adam Gorightly, cattle mutilations, Whitley Strieber, shamanism, progeria and the grey alien image, the podcast “The Bridge”, wartime Fu-Go balloon secrecy, Lou Elizondo, Bob Lazar, the Hell's Angels MC, a Japanese vintage mechanical disc, Continuity of Government Program, the Soviet AIDS from a U.S. lab propaganda op, Rendlesham, Roswell in TV and film, Colonel Philip J. Corso, “In Search Of”, “Unsolved Mysteries”, Stanton Friedman, back-engineering, Jay Stratton, Joe Rogan, the “Intellectual Dark Web”, the reality of the UFO phenomena, Terence McKenna, and much more! This conversation draws out countless angles on a seemingly cliched topic!

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.02.04.527139v1?rss=1 Authors: Hasper, J., Welle, K., Swovick, K., Hryhorenko, J., Ghaemmaghami, S., Buchwalter, A. Abstract: Mutations to the LMNA gene cause laminopathies including Hutchinson-Gilford progeria syndrome (HGPS). The origins of tissue specificity in these diseases are unclear, as the A-type Lamins are abundant and broadly expressed proteins. We show that A-type Lamin protein and transcript levels are uncorrelated across tissues. As protein-transcript discordance can be caused by variations in protein lifetime, we applied quantitative proteomics to profile protein turnover rates in healthy and progeroid tissues. We discover that tissue context and disease mutation each influence A-type Lamin protein lifetime. Lamin A/C has a weeks-long lifetime in the aorta, heart, and fat, but a days-long lifetime in tissues spared from disease. Progerin is even more long-lived than Lamin A/C in the cardiovascular system and accumulates there over time. These proteins are insoluble and densely bundled in cardiovascular tissues, which may present an energetic barrier to degradation. We reveal that human disease alleles are significantly over-represented in the long-lived proteome. These findings indicate that gene therapy interventions will have significant latency and limited potency in disrupting long-lived disease-linked proteins such as Progerin. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Sarah speaks with Donna Gordon about her debut novel, What Ben Franklin Would Have Told Me, which "explores the story of Lee, a vibrant thirteen-year-old boy who is facing premature death from Progeria (a premature aging disease); his caretaker TomÁs, a survivor of Argentina's Dirty War, who is searching for his missing wife, who was pregnant when they were both "disappeared;" and Lee's single mother, Cass, overwhelmed by love for her son and the demands of her work as a Broadway makeup artist. When a mix-up prevents Cass from taking Lee on his "final wish" trip to Washington, D.C. and Philadelphia to pursue his interest in the life of Ben Franklin, TomÁs--who has discovered potential leads to his family in both cities--offers to accompany Lee on the trip. As one flees memories of death and the other hurtles inevitably toward it, they each share unsettling truths and find themselves transformed in the process. Set during the Ronald Reagan presidency, this lyrical novel transcends an adventure story to take the reader on an unforgettable journey." If you enjoyed this episode, follow and subscribe to the show: you can find us on iTunes or on any app that carries podcasts as well as on YouTube. Please remember to subscribe and give us a nice review. This way you will always be among the first to get the latest GSMC Book Review Podcasts. We would like to thank our Sponsor: GSMC Podcast Network Advertise with US: https://gsmcpodcast.com/advertise-with-us Website: https://gsmcpodcast.com/gsmc-book-review-podcast Apple Podcasts: https://itunes.apple.com/…/gsmc-book-review-po…/id1123769087 GSMC YouTube Channel: https://www.youtube.com/watch?v=N-EKO3toL1A Twitter: https://twitter.com/GSMC_BookReview Facebook: https://www.facebook.com/GSMCBookReview/ Instagram: https://www.instagram.com/gsmcbookreview Disclaimer: The views expressed on the GSMC Book Review Podcast are for entertainment purposes only. Reproduction, copying, or redistribution of The GSMC Book Review Podcast without the express written consent of Golden State Media Concepts LLC is prohibited.

We received an email from an amazing young woman Kyra Culloton who felt that young adults with disability weren't being represented enough on the podcast. So we invited her to host her own episode! Kyra talks to Enzo who has Progeria; an extremely rare, progressive genetic disorder that causes children to age rapidly and Beau who was born with Morquio A syndrome. We hope you enjoy this episode and if you want to see and hear more of these episodes then please leave a thumbs up

Oggi avremo il piacere di fare un viaggio con Sammy Basso, un ragazzo unico al mondo, intelligente, sensibile, forte e generoso. Dedica la sua vita alla ricerca tramite la sua associazione, alla quale tutti noi possiamo dare un grande contributo donando: progeriaitalia.org Il dream team di One More Time è composto da: Giovanni Zaccaria, Mauro Medaglia, Davide Tessari, Alice Gagliardi, Margherita Pea e Filippo Perbellini.See omnystudio.com/listener for privacy information.

Have you ever seen the movie called The Curious Case of Benjamin Button? Well... what if I told you there was a real disorder which caused young children to age rapidly and become trapped in an elderly body? On today's episode, we're diving into the world of genetics and gene mutations to learn all about progeria - the real life Benjamin Button disorder. Find Miss Medical on Instagram as Miss Medical Podcast Buy us a coffee! Just click HERE. Join our team of interns on Patreon to show your support by clicking HERE  Find episode info on Podbean HERE.  

A rare, fatal, genetic condition, characterized by premature aging beginning at childhood

เรื่องราวของ แซม เบิร์นส์ นักเรียนชั้นมัธยมต้น โรงเรียนมัธยมฟอกซ์โบโร รัฐแมสซาชูเซตส์ ประเทศสหรัฐอเมริกา ผู้ซึ่งได้รับการวินิจฉัยเมื่ออายุ 2 ขวบ ว่าเป็นโรค Progeria หรือ โรคชราก่อนวัย ที่ทั้งโลกมีคนที่เป็นโรคนี้ประมาณ 350 คน ขณะที่ต้องเผชิญโรคร้ายเขาก็ไม่ได้เพิกเฉยกับความรู้สึกแย่ๆ นั้น ตรงข้ามเขายอมรับมันและยอมให้มันเป็นส่วนหนึ่งของชีวิต โดยไม่เสียเวลากับความรู้สึกหดหู่ที่จะทำให้ไม่มีพื้นที่ว่างสำหรับความสุข สิ่งที่เขาทำคือก้าวข้ามมันไป ตลอดเวลาที่เขามีชีวิตอยู่ แทนการให้คนอื่นมาดูแลทำตัวไร้ค่า เขากลับใช้ชีวิตแบบคนปกติสร้างแรงบันดาลใจให้ผู้คนที่มีร่างกายสมประกอบ เขาได้ขึ้นพูดบนเวที TEDx MidAtlantic เขาพูดถึงแนวคิดการใช้ชีวิตท่ามกลางโรคที่ใคร ๆ มองว่าเป็นโชคร้าย แต่เขากลับมองว่ามันทำให้รู้ถึงคุณค่าของชีวิต ทำให้เขาได้มีโอกาสทำตามความฝันมากมาย ภายหลังจากที่ได้ขึ้นเวที TEDx เพียง 1 ปี เขาได้เสียชีวิตในวันที่ 10 มกราคม 2014 แม้ว่าเขาจะจากไปแล้วเมื่อ 8 ปี ที่ผ่านมา แต่ข้อคิดที่เขาฝากไว้บนเวทีนั้น เป็นแรงบันดาลใจที่ดีสำหรับอีกหลาย ๆ คน ที่มีปัญหาในชีวิต มาติดตามเรื่องราวของหนุ่มน้อย ผู้ไม่ยอมพ่ายแพ้แก่โชคชะตาค่ะ ขอบคุณข้อมูล เรื่อง My philosophy for a happy life | Sam Berns | TEDxMidAtlantic โดย TEDx Talks เผยแพร่ทาง https://www.youtube.com/watch?v=36m1o-tM05g&ab_channel=TEDxTalks เรื่องเฮย์ลีย์ โอไคน์ส เด็กสาวป่วยด้วยโรคแก่ก่อนวัย เสียชีวิตแล้ว โดย รามาแชนแนล Rama Channel แพร่เผยเมื่อ 20 เมษายน 2015 เผยแพร่ทาง https://www.facebook.com/ramachannel/photos/พบหมอรามาวันนี้-กับช่วง-rama-update-มาอัพเดทข่าวสุขภาพ-กับ-ผศนพเฉลิมพงษ์-ฉัตรดอก/1616587451890816/?locale=th_TH เรื่อง TEDx Talks พากษ์ไทย: ปรัชญาสร้างความสุขของคนเป็นโรคแก่ก่อนวัย | Sam Berns โดย Art of Story - อาร์ตเล่าเรื่อง แพร่เผยเมื่อ 1 เม.ย. 2022 เผยแพร่ทาง https://www.youtube.com/watch?v=uP-2Ou-F6Ng&ab_channel=ArtofStory-อาร์ตเล่าเรื่อง เรื่อง 4 ข้อ ของความสุขในชีวิต จากเด็กหนุ่มผู้มีความสุขที่สุด โดย LIFE's Chapter TH แพร่เผยเมื่อ 7 กันยายน 2562 เผยแพร่ทาง https://medium.com/@Lifes_ChapterTH/4-ข้อ-ของความสุขในชีวิต-จากเด็กหนุ่มผู้มีความสุขที่สุด-แรงบันดาลใจ-8016ef7ab22c --- Send in a voice message: https://anchor.fm/snclibrary/message

This month, we talked to Amanda Lynn Mayhew; creator of Just Hunt, That Hunting Girl, the Take Me Hunting/Fishing/Shooting Program and is a rising star in the Canadian outdoor community. Amanda Lynn's passion for fitness and fun combined with her outdoor skills and positive attitude made her the perfect mentor for new hunters of all ages. Her TV show has been entertaining, educating, and engaging Canadians since 2016 and her social media presence is impressive. Amanda Lynn has been organizing Women's Range Days since 2011 and says “Ladies in our community are inspiring more women each day, to become more independent, self-reliant and strong. I am honoured to partake in this community and to be able to mentor and inspire as many women as I can”. This young woman has proved her worth as an athlete, inspirational speaker, angler, power sports enthusiast, sport shooting advocate, and a hunter whose mission it is to pass on the passion to our future generations. Amanda Lynn was diagnosed with Graves Disease in 1998 and has given her efforts to bring awareness to rare diseases and health awareness including Progeria, Multiple Sclerosis, and Congenital Heart Conditions. Amanda has overcome these challenges and embraces her hunting roots, taking her message nationally to become one of the most recognizable faces of the Canadian outdoors. Amanda supports the work of the CCFR Women's Program and has partnered with the CCFR on multiple projects, from TV productions to event appearances, she is helping shape the role of women in our community, one shooter at a time. About SHE SHOOTS PODCAST: SHE SHOOTS is a podcast for women in the shooting community and for those interested in learning more about it. It is hosted by women who shoot, hunt, and instruct and most importantly share a passion for introducing new ladies to the sport. Coming to you on the second Tuesday of every month, the objective of SHE SHOOTS is to showcase various activities in the shooting sports and highlight the people who participate. We hope this will help you find something you are interested in learning more about and various ways to get involved. Did you know the shooting community proudly boasts over 250,000 licensed women who participate across Canada? This sport has something for everyone and it's easy to get out and give it a try. Join us every month when we host SHE SHOOTS on a variety of social media platforms. This exciting collaboration is brought to you by the Canadian University Shooting Federation, Project Mapleseed and LadyGuns.

ABOUT THE AUTHOR Donna Gordon is a fiction writer and visual artist from Cambridge, Massachusetts. She graduated from Brown, and was then a Stegner Fellow at Stanford, a PEN Discovery, and Ploughshares Discovery. She received the 2018 New Letters Publication Award, and was a finalist for the 2019 Black Lawrence Press Big Moose Award, a semi-finalist for the 2019 Dzanc Books publication award, a semi-finalist for the 2019 Eludia Award, Hidden River Arts, and is currently a semi-finalist at YesYes books for her novel, What Ben Franklin Would Have Told Me. ABOUT THE BOOK - WHAT BEN FRANKLIN WOULD HAVE TOLD ME A vibrant thirteen-year-old boy who is facing premature death from Progeria (a premature aging disease); his caretaker TomÁs, a survivor of Argentina's Dirty War, who is searching for his missing wife, who was pregnant when they were both "disappeared;" and Lee's single mother, Cass, overwhelmed by love for her son and the demands of her work as a Broadway makeup artist. When a mix-up prevents Cass from taking Lee on his "final wish" trip to Washington, D.C. and Philadelphia to pursue his interest in the life of Ben Franklin, TomÁs--who has discovered potential leads to his family in both cities--offers to accompany Lee on the trip. As one flees memories of death and the other hurtles inevitably toward it, they each share unsettling truths and find themselves transformed in the process. Set during the Ronald Reagan presidency, this lyrical novel transcends an adventure story to take the reader on an unforgettable journey which explores love, family and the inevitability of change.

Our Patreon doomsday clock; hole: to show or not to show? Usama's road gig on a Deep South plantation; hanging with MLK's niece; Indian maternal justice in Telangana; eyeball achar; pepper punishments; innovative beatings; all 49 reasons to get beat; how old is Hasbulla? Progeria and Islam; should we beat our kids?FOLLOW US :@yourmangobae

Abysmal Dawn • Apparition • Epitaphe • Wrack Abhorrent Expanse • Choreomanic • Feralia • Aeviterne Abysmal Dawn: "Blacken The Sky" taken from the EP "Nightmare Frontier" Apparition: "Entanglement" taken from the album "Feel" Epitaphe: "Melancholia" taken from the album "II" Wrack: "Repulsive Gravity" taken from the album "Repulsive Gravity" Abhorrent Expanse: "Path of Extremal Action" taken from the album "Gateways To Resplendence" Choreomanic: "Take The Money Give It To Me Now" taken from the album "Choreomanic" Feralia: "THE PYRE AND THE STARS" taken from the album "Under Stige" Aeviterne: "Stilled the Hollows' Sway" taken from the album "The Ailing Facade"

Halooo sobat JMKI! Nggak kerasaaa nih Hygeia Podcast udah masuk season 3 ajaa! Nah di season 3 episode 1 kali ini, Hygeia Podcast akan membahas tentang progeria nih! Progeria tuh apaan sih? Progeria adalah kelainan genetik progresif yang menyebabkan penuaan cepat pada anak-anak dan mutasi genetiknya terjadi secara acak dan tidak diwariskan. Wah, jadi tambah penasaran ngga sih dan pengen tahu lebih lanjut tentang progeria ini? Yuk cus langsung dengerin Hygeia Podcast bulan ini bersama dua announcer kece kita yaitu Fanie dan juga Salsa!

Here is an individualized account of progeria. Let's take a deeper look and learn more.

Justin Tsimbidis was born with Progeria, which is a progressive genetic disorder that causes one to age rapidly. The life expectancy for most people with this disease is 13 years old... Well, Justin is 28 years old and is living his best life. in 2009, Justin went viral on YouTube under the name of "Tsimfuckis", but due to personal reasons ended up deleting his channel. After disappearing from the internet for over 10 years, many people thought Justin had died.. Well, Justin is back from the grave, and enjoys creating dope content/staying true to himself. I really enjoyed talking Madden, Funko Pops, wrestling, YouTube, and more. --- Support this podcast: https://anchor.fm/zachary-barber/support

Tiffany always knew she was different but is always full of joy despite her physical challenges.  When she became a teenager, she discovered just how unique she truly was. Through testing, she, her brother, and mother discovered they all had Progeria, a rapid aging disability. At 43, Tiffany is relatively healthy and definitely happy! It was a joy and honor to sit and talk with this "unicorn" who has a 1:50 million life!  Tune in and enjoy this episode of Disability Talks.Website: https://www.wanderlustcbus.com/contact-usInstagram: https://www.instagram.com/wanderluststudiocbus/Facebook: https://www.facebook.com/wanderluststudiocbus/Want to be a guest on our show?  Connect with us at: https://www.abilitiesinmotion.org/podcastFacebook: https://www.facebook.com/AbilitiesinMotionPALinkedIn: https://www.linkedin.com/company/abilitiesinmotion/Twitter: https://twitter.com/BerksCountyCIL?ref_src=twsrc%5Egoogle%7Ctwcamp%5Eserp%7Ctwgr%5EauthorInstagram: https://www.instagram.com/instaaim/

Beandrie Booysen, Mamma Bea en Marie Venter het gister by ons in die ateljee vir ‘n regstreekse JouMenseMyMense-insetsel. Beandrie, is tans die oudste Progeria-leier in Suid-Afrika. Progeria is ‘n sindroom wat veroorsaak dat kinders ongeveer sewe-maal vinniger verouder. Sy het net een behoefte end room…Om die oudste progeria-leier in Suid-Afrika te word (26 jaar oud). Marie Venter, vriendin van die familie, het ons genader om hulle te help om vir Beandrie ‘n onvergeetlike 16de verjaarsdag ‘prinsesbal' te reël! Hulle het reeds reggekom met ‘n rok – wat ontwerp gaan word deur die baie bekende Anel Botha. Ook ‘n ‘venue' in Montana, naamlik La Perna Wedding Venue. Marie het aan ons genoem dat hulle nog hulp benodig met dekor en eetgerei, ‘n fotograaf, ‘n voertuig (Beandrie wil baie graag met ‘n ‘limousine' ry), nagereg en ‘n verjaarsdag-koek, en ‘n splinternuwe blonde nuwe pruik.

Beandrie Booysen, Mamma Bea en Marie Venter het gister by ons in die ateljee vir ‘n regstreekse JouMenseMyMense-insetsel. Beandrie, is tans die oudste Progeria-leier in Suid-Afrika. Progeria is ‘n sindroom wat veroorsaak dat kinders ongeveer sewe-maal vinniger verouder. Sy het net een behoefte end room…Om die oudste progeria-leier in Suid-Afrika te word (26 jaar oud). Marie Venter, vriendin van die familie, het ons genader om hulle te help om vir Beandrie ‘n onvergeetlike 16de verjaarsdag ‘prinsesbal' te reël! Hulle het reeds reggekom met ‘n rok – wat ontwerp gaan word deur die baie bekende Anel Botha. Ook ‘n ‘venue' in Montana, naamlik La Perna Wedding Venue. Marie het aan ons genoem dat hulle nog hulp benodig met dekor en eetgerei, ‘n fotograaf, ‘n voertuig (Beandrie wil baie graag met ‘n ‘limousine' ry), nagereg en ‘n verjaarsdag-koek, en ‘n splinternuwe blonde nuwe pruik.

Old is a supernatural mystery thriller starring Jumanji co-star Alex Wolff about a family on a tropical holiday who discover a secluded beach where relaxing causes aging rapidly in a single day taking of your entire life.We examine this movie to see if it properly considered the progeria condition which is also known as Hutchinson-Gilford syndrome, an extremely rare, progressive genetic disorder, that causes children starting in the first two years to age rapidly.What are your thoughts?Subscribe to the "Beyond the Natural Podcast" on any podcast app or by going to YouTube!

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Progeria is an ultra rare genetic condition. Sufferers age extremely rapidly and usually die within 20 years. Before the turn of the millenium, almost nothing was known about the disease, which is also called Hutchinson-Gilford syndrome. The Progeria Research Foundation is spearheading the search for a cure. Find out how you can help fund research that drastically improves the quality of life of Progeria children. Want to support the Progeria Research Foundation? https://www.progeriaresearch.org/  Find the episode on Great.com: https://great.com/great-talks-with/progeria-research-foundation/

https://astralcodexten.substack.com/p/what-do-treatments-for-accelerated   Progeria is a rare disease that makes people age unnaturally quickly. Babies born with progeria can lose their hair in toddlerhood, get wrinkles by grade school age, and die - apparently of old age - in their early teens. You can see a picture of a progeroid child here, though I don't recommend it. There's been a lot of research on one important form - Hutchinson-Gilford Syndrome - and just last year, the FDA approved the first treatment, a drug called lornafarnib. In the study, a few hundred children averaging around 7 years old took the drug for two years; 3% died during that time. In an ad hoc group of untreated comparison children, about 30% died during the same period. I'm a little confused by the methodology - it seems like the "comparison children" were chosen partly because they died too early to get into the trial, which sounds like a pretty major confounder - but everyone seems to treat this as reasonable so I will assume they adjusted for this in some way. If that's true, then lornafarnib cuts mortality by 90%. That's great for the 300 or so children worldwide with Hutchinson-Gilford progeria (it's a really rare disease). But none of the discussion about this answered the question I wanted to know: can lornafarnib also prevent normal aging? After looking into this more, I find some evidence the the answer is no, but also some reasons why maybe it's less clear cut than that? Hutchinson-Gilford progeria (I'll just say "progeria" from here on, even though that's kind of inaccurate) is what's called a laminopathy. It's a disease of the nuclear lamina, a weblike structure that helps support and give shape to the cell nucleus. The lamina is partly made of a protein called lamin A. Children with progeria have a mutation in the relevant gene; instead of producing lamin A, they produce a defective mutant protein called progerin. The cell tries to build the nuclear lamina out of defective progerin instead of normal lamin A, and as a result the cell nucleus is screwed up and can't maintain a normal shape.

Luis Herrero entrevista a Quim Miró, autor del libro 'Una niña entre 20 millones'.

Progeria is a rare disease that causes premature aging in childhood; the FODMAP diet is explained as a treatment for IBS; J&J vaccine restarted; Question of the month: Fever and Cough.Introduction: Low FODMAP Diet and J&J COVID Vaccine is back.  By P. Eresha Perera, MS3, and Sherika Adams, MS3.Today is May 10, 2021.Irritable Bowel Syndrome. Patients with IBS frequently have other conditions such as anxiety, depression, somatization, fibromyalgia, chronic fatigue syndrome, GERD, dyspepsia, non-cardiac chest pain, chronic pain, and other mental illness. A common triad we see in the clinic is: Anxiety + Fibromyalgia + IBS. Treating these conditions is hard, and even more so when they are combined. Let’s focus for now on IBS treatment. Recently we had a patient with IBS who had a laparoscopic cholecystectomy and of course was complaining of abdominal pain and constipation. We mentioned the low FODMAP diet as part of the treatment. The low FODMAP diet has been proven for the treatment of irritable bowel syndrome (IBS) and or small intestinal bacterial overgrowth (SIBO). It has decreased symptoms in 86% of people. FODMAP is an acronym that stands for fermentable oligosaccharides, disaccharides, monosaccharides, and polyols. This diet attempts to restrict these short-chain carbs that are poorly absorbed by the small intestine, resulting in cramping, constipation, diarrhea, bloating, and gas or flatulence.You can recommend your patients to follow 3 steps: Step 1: Eliminate foods that are high on FODMAP, Step 2. Determine which foods cause symptoms by reintroducing eliminated foods slowly, and Step 3. After identification of the FODMAP foods that cause symptoms, remove them completely from the patient’s diet. Dr. Hazel Galon Veloso, John Hopkins's gastroenterologist, recommends doing step 1 for 2-6 weeks and step 2 reintroducing a high FODMAP food back into diet every 3 days. Example of HIGH FODMAP foods: Dairy-based milk, yogurt, ice cream, wheat products (cereal, bread, and crackers), beans, lentils, vegetables like artichokes, asparagus, onions, and garlic, and fruits such as apples, cherries, pears, and peaches. Example of LOW FODMAP foods: Eggs, meat, cheese such as Brie, cheddar, and feta; almond milk, rice, quinoa, oats, potatoes, tomatoes, cucumbers, zucchini, grapes, oranges, and strawberries.If available, Fodmap should be initiated with the advice of a nutritionist that can help with the transition, prevent over-restriction and nutritional replete diet. Consider this diet as an initial treatment for your patients with IBS.Vaccination with J&J COVID 19 Vaccination has been restarted.On a different note, On April 23, 2021, the CDC’s Advisory Committee on Immunization Practices (ACIP) has recommended to restart vaccination with the Janssen/Jonson & Jonson COVID-19 vaccine after a pause on April 13, 2021[2]. After giving the J&J vaccine to almost 8 million patients, 15 cases of Thrombosis with Thrombocytopenia Syndrome (TTS) were reported and three of them died. The recommendation was given after a risk-benefit analysis that determined that the benefits of the vaccine outweigh the risks. The risk of TTS in women age 18-49 still exists, but it is considered very low when compared to all the risks carried by COVID 19 itself. Under the emergency use authorization, the Jonson & Jonson vaccine is considered highly effective and safe. In comparison, the AstraZeneca vaccine has had several more cases of TTS, Moderna has had only 3 but with normal platelets, and Pfizer has had zero cases of TTS[3].  This is Rio Bravo qWeek, your weekly dose of knowledge brought to you by the Rio Bravo Family Medicine Residency Program from Bakersfield, California. Our program is affiliated with UCLA, and it’s sponsored by Clinica Sierra Vista, Let Us Be Your Healthcare Home.___________________________Question of the Month: Fever and CoughWritten by Hector Arreaza, MDWhat are your top 3 differential diagnosis and acute management for a 69-year-old man with new onset of fever, cough, leukocytosis and a right lower lobe consolidation? Important: Rapid COVID-19 test is negative.____________________________Progeria. With Salwa Sadiq-Ali, MS3, Veronica Phung, MS3; and Hector Arreaza, MD.   “The Curious Case of Benjamin Button” is an American movie released in 2008, directed by David Fincher, starring Brad Pitt. Let’s see how we can connect this movie to today’s topic.What is Hutchinson Gilford Syndrome better known as Progeria?V. Phung: That’s a great question! Progeria is an extremely rare disease. It’s progressive and causes children to age very quickly within the first few years of their life. The disease is not evident at birth. S. Sadiq-Ali: Exactly! Usually, kids will start developing symptoms within their first year of life with the first symptom being failure to thrive. Other common features include a disproportionately large head for their face, narrow nasal ridge and tip, small mouth, retro and micrognathia, little to no subQ fat with small outpouchings, delayed eruption of primary teeth, progressive joint contractures, and essentially all geriatric conditions like alopecia, osteoarthritis, and hearing loss. One interesting tidbit though is that their motor and mental development is normal! H. Arreaza: A child getting old quickly, that’s so interesting. What’s the pathophysiology of this condition?V. Phung: So, it’s due to a genetic mutation - a single nucleotide polymorphism - in the LMNA gene known as lamin A. This gene codes for the lamin A protein which holds the cell’s nucleus together. A mutation causes your body to make a much smaller protein called progerin. Progerin is not stable so it doesn’t hold the cell’s nucleus together properly. This instability is thought to be the cause of premature aging. S. Sadiq-Ali: That’s right Veronica! There are two common mutations – the classic form and the non-classic form. The difference between the two forms is where in the gene the mutation occurs. H. Arreaza: So, if I suspect my patient has progeria, I should do a genetic test for the LMNA gene mutation. How common is progeria?S. Sadiq-Ali: About 1 in every 4 to 8 million births is affected by progeria. Unlike many other conditions, there aren’t any predisposing factors - such as gender, location, or ethnicity. It’s completely random! Right now, about 179 children across 53 different countries have been diagnosed with progeria. 18 of those cases are here in the US. One family in India, has had 5 children with progeria. Another interesting fact is that there have been only 2 known cases of a completely healthy person carrying the mutated gene!  V. Phung: Since they’re aging so rapidly and prematurely, their life expectancy is about 14.5 years. However, the oldest believed survivor - Tiffany from Ohio – has lived up to the age of 43! H. Arreaza: And she is still alive, as far as I know. What can be done in terms of management to ensure these children and adults can live their best, most comfortable life? S. Sadiq-Ali: There’s no cure so you’d want to manage any symptoms and make sure the child is getting proper nutrition. Generally, the recommendation is to have small frequent meals, maintain good hydration, do routine PT and exercises, use shoe pads since they don’t have much body fat to provide cushioning, use plenty of sunscreen, prescribe anticoagulation as needed for geriatric conditions like CAD/CVD, and manage any fractures or dislocations that may occur. It requires a multidisciplinary care team.H. Arreaza: So, you mentioned Tiffany Wedekind, the person with progeria who has lived the longest. Now, I want to mention Sam Berns, maybe the most famous person with progeria. “Life According to Sam” is an HBO documentary directed by Sean Fine and Andrea Nix Fine. It was presented in January 2013 at the Sundance Film Festival (I love Park City, Utah). The documentary explains the impact of progeria on the lives of Sam Berns and his parents, Dr. Leslie Gordon and Dr. Scott Berns. You can also see or listen to the Ted Talk given by Sam Berns (google it or go to the link in our script).S. Sadiq-Ali: These kids are aging so quickly they have geriatric conditions; do they die from natural causes or from heart disease and stroke? V. Phung: That’s a great question. Unfortunately, yes. Death is commonly due to complications from atherosclerosis, cardiac disease, and cerebrovascular disease - like a heart attack or stroke. S. Sadiq-Ali: “The Curious Case of Benjamin Button” is usually thought to be an example of progeria, but it’s actually the opposite: A child born as an adult who dies as a baby.H. Arreaza: That was really educational. Progeria, a rare disease that you should know about, in case someone asks you. Remember, “family doctors know everything”.  Even without trying every night you go to bed being a little wiser.ConclusionBy Hector Arreaza, MDNow we conclude our episode number 51 “Progeria”, a rare disease that requires care by a multidisciplinary team. You may not encounter a patient with progeria in your life, but if you do, now you know the fundamentals of that syndrome. We started this episode talking about the FODMAP diet. Consider this diet as part of the initial treatment of IBS. Don’t forget to send your answer (one more week to do it). What are your top 3 differential diagnosis and the acute management of a 69-year-old male with new onset of fever, cough, leukocytosis, right lower lobe consolidation and negative rapid COVID 19 test. Remember, even without trying, every night you go to bed being a little wiser.Thanks for listening to Rio Bravo qWeek. If you have any feedback about this podcast, contact us by email RBresidency@clinicasierravista.org, or visit our website riobravofmrp.org/qweek. This podcast was created with educational purposes only. Visit your primary care physician for additional medical advice. This week we thank Hector Arreaza, Sherika Adams, Eresha Perera, Salwa Sadiq-Ali, and Veronica Phung. Audio edition: Suraj Amrutia. See you next week!_____________________References:Veloso, H. G. (n.d.). FODMAP Diet: What You Need to Know. Johns Hopkins Medicine. https://www.hopkinsmedicine.org/health/wellness-and-prevention/fodmap-diet-what-you-need-to-know.  ACIP Updates Recommendations on Johnson & Johnson Vaccine, American Association of Family Physicians, aafp.org. https://www.aafp.org//news/health-of-the-public/20210429acipjjvac.html Meara, Killian, CDC’s ACIP Votes to Reaffirm Recommendation of Johnson & Johnson COVID-19 Vaccine, April 23, 2021, ContagionLive.com. https://www.contagionlive.com/view/cdc-s-acip-votes-to-reaffirm-recommendation-of-johnson-johnson-covid-19-vaccine Progeria, National Center for Advancing Translational Sciences, National Institutes of Health, https://rarediseases.info.nih.gov/diseases/7467/progeria, accessed on May 6, 2021. Sinha JK, Ghosh S, Raghunath M. Progeria: a rare genetic premature ageing disorder. Indian J Med Res. 2014;139(5):667-674. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4140030/ Gordon LB, Brown WT, Collins FS. Hutchinson-Gilford Progeria Syndrome. 2003 Dec 12 [Updated 2019 Jan 17]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1121/.  The Progeria Research Foundation, https://www.progeriaresearch.org/, accessed on May 6, 2021. Family battles with rare progeria disease, Deccan Herald, New Delhi, November 9, 2009, https://www.deccanherald.com/content/34971/family-battles-rare-progeria-disease.html Sam Berns, TEDx MidAtlantic 2013, My philosophy for a happy life. Available at: https://www.ted.com/talks/sam_berns_my_philosophy_for_a_happy_life?language=en, accessed on May 6, 2021.

El Dr. Frank G. Hammond, Médico Genetista, conversa con Peter T. sobre la progeria (síndrome de envejecimiento prematuro Hutchinson-Gilford) y las esperanzas que ofrecen recientes investigaciones para quienes sufren esta condición, en la sección de ciencia y salud de TecnologiaHechaPalabra. El eminente investigador y académico de Genética Médica en la Universidad Lisandro Alvarado de Barquisimeto, detalla las características de la progeria, que la produce y su incidencia, además, asoma importantes desarrollos de la investigación médica que podrían ralentizar el deterioro característico del envejecimiento prematuro. - - - Duración = 00:25:35. - - - - - - Artículos relacionados: - Progeria (http://www.tecnologiahechapalabra.com/salud/especialidades/articulo.asp?i=7244). - Medicina regenerativa: avances en celulas madres contra la progeria (http://www.tecnologiahechapalabra.com/salud/salud_instante/articulo.asp?i=7200). - Esperanza contra la progeria y para ralentizar el envejecimiento (http://www.tecnologiahechapalabra.com/ciencia/actacientifica/articulo.asp?i=7243). - Nuevos avances contra el envejecimiento (http://www.tecnologiahechapalabra.com/ciencia/biociencias/articulo.asp?i=10803). - The Curious Case of Benjamin Button (http://www.tecnologiahechapalabra.com/entretenimiento/record_report/cinevideo/articulo.asp?i=3464).

The final battle for the fate of humanity is upon us, and so is the end of our journey. It was long and arduous, full of pain and confusion, but its purpose has finally been revealed. After a four-year sabbatical to hone his narrative craft, Paul W.S. Anderson pulls away the curtain one last time like a master magician to show us just how everyone’s fates, desires, and destinies are intertwined. We learn Umbrella’s true design, the origin of Alice, and see the Red Queen redeemed in a stunning subversion of a familiar turn. Events from prior in the series that at the time seemed masturbatory and gratuitous now are thrown into sharp relief, their true significance only glimpsed in the final moments of this monumental storytelling achievement. As George Lucas once so wisely put it, "It’s like poetry - it rhymes!"

The Minks are back once again talking Haunting of Hill House and being afraid, Kitchen Job Bullying, Guy stealing a car in 30 seconds, Progeria in 2021, Funk meets Father Nelson, Manscaping discussion, Campbells soup argument, European Advertising and more!!!!

El Dr. Frank Hammond, médico geneticista y profesor titular en la Escuela de Medicina de la Universidad Centro Occidental Lisandro Alvarado (UCLA), reporta en SALUDyTecnologia los resultados de un trabajo de investigación sobre ceguera infantil, realizado en la UCLA, que ha permitido conocer mejor las causas de algunas de las patologías más comunes y severas de ceguera en neonatos y menores de edad.--- ---Duración= 00:22:26.--- ---Imagen: hellomotherhood.com (Signs of Blindness in Newborns).--- ---Escuche también al Dr. Hammond en las entrevistas "Genética y medicina", "Plaguicidas y malformaciones congénitas" y "Progeria y esperanzas antienvejecimiento".Artículos relacionados:- Ceguera en niños de paises en desarrollo.- Prematuridad y ceguera.- Retinopatía de la prematuridad.- Problemas de la vista.- Ojo con la vista.- Patologías de la retina.- Glaucoma.- Retinitis pigmentosa: pérdida de visión por herencia.- Degeneración macular.- Vitamina A (retinol y carotenos).- Curando la ceguera con células madre.--- ---Encuentre más archivos de audio relacionados con salud en tecnologiahechapalabra.com.

COVID-19 Update; News Items: The Home of Jesus, Ancient Seeds, Treatment for Progeria, Protein Folding Solved, ISS Longevity; Who's That Noisy; Your Questions and E-mails: Principia Follow Up; Name That Logical Fallacy: Slippery Slope; Science or Fiction

COVID-19 Update; News Items: The Home of Jesus, Ancient Seeds, Treatment for Progeria, Protein Folding Solved, ISS Longevity; Who's That Noisy; Your Questions and E-mails: Principia Follow Up; Name That Logical Fallacy: Slippery Slope; Science or Fiction

Here are the links for everything discussed in Episode 46, I'm also including times here so feel free to skip ahead to the topics that interest you. I hope everyone has a safe, happy, and socially distanced holiday! (1:08) Approval of Zokinvy for Hutchinson-Gilford progeria syndrome (4:37) New EUA authorized for banlamivimab for treatment of COVID19 CDC updates on COVID-19 & influenza reportingConnect with The Rx Daily Dose:Twitter      Instagram      YouTube      Linkedin       WebsiteEmail: therxdailydose@gmail.comConnect with Ian Parnigoni PharmD. on social media:Twitter       Instagram       Linkedin  ★ Support this podcast on Patreon ★

Progeria is a rare disorder that causes children's bodies to age and deteriorate quickly. Those with the condition have a life expectancy of 13 years. We follow the journey of one patient, Hayley Okines, who dedicated her short life to helping others battle the disease.

Ik nodigde Michiel en Amber uit om te praten over Progeria, maar ook TikTok en relaties. Volg mij @enderscholtens of Instagram: https://www.instagram.com/enderscholtens/ Twitter: https://twitter.com/enderscholtens?lang=en Snapchat: enderrrrr YouTube: https://www.youtube.com/channel/UC4F3QqJ-g0HDqvyWf-6K4Sw TikTok: http://vm.tiktok.com/J61VUE/

Lucas, son of Hermes and Hayley, daughter of Aphrodite, recap chapter 2 of Percy Jackson and the Lightning Thief! Join them on the adventure as they finish Percy's exams, contemplate their own reactions to weird things, and introduce a new Mythological figure(s). Follow us on social media on Instagram and Twitter @olympusradiopodcast and join our Facebook page at Olympus Radio Podcast! Email your fan story to be read during our Iris Message segment to olympusradiopodcast@gmail.com. Sources include: Iliad and Oddysey by Homer, Greek Myths: A Wonder Book for Boys and Girls by Nathaniel Hawthorne, The Greek Myths: Stories of the Greek Gods & Heroes Vividly Retold by Robin Waterfield, Bullfinch's Mythology by Thomas Bullfinch, Mythology: Timeless Tales of Gods and Heroes by Edith Hamilton, The Ultimate Encyclopedia of Mythology by Arthur Cotterell and Rachel Storm, Percy Jackson's Greek Gods by Rick Riordan, www.greekmythology.com, Parcast Podcast Mythology hosted by Vanessa Richardson and Parcast Podcast Mythical Monsters hosted by Vanessa Richardson

¿Conoces el sídrome llamado "Progeria"? ¿Has escuchado del síndrome llamado "El Síndrome de Peter Pan? ¿Cómo pueden estas dos realidades ayudarnos en nuestros procesos de crecimiento? Abramos la Biblia juntos y tratemos de entender algo sobre la responsabilidad de los creyentes que supuestamente somos maduros.

There aren’t many people who’ve faced the trials in life that this week’s guest has overcome. Charlotte Ham is a key part of the Hastings Kickboxing Academy, but her resilience doesn’t just come through in her martial arts skills. Charlotte’s life has been a series of devastating emotional challenges, each of which Charlotte has battled through, to become the indomitable spirit she is today. In Part 1 of our conversation, Charlotte talks about growing up, her school life, love and separation, loss and grief, and how she’s used each painful ordeal as a lesson to become a better human being. KEY TAKEAWAYS Trauma in childhood, if not properly identified and dealt with, can lead to huge problems in later life. Charlotte’s childhood was not a happy one, and the effects are still being felt.  Emotional trauma can never stayed buried forever. Sometimes we can be so glad to be out of a situation that we do not deal with its after-effects properly, but this is a mistake. Families come in all shapes and sizes these days. You need to use whatever works for you and your situation. We should always seek to be as happy as possible without hurting others. Charlotte’s sister, Hayley, was born with Progeria, a condition that causes the body to age up to eight times faster than normal. Hayley was born when Charlotte was 13 years old. Hayley died at 18, and the pain is still being keenly felt. At the time, talking doesn’t feel like the natural step towards recovery, but in time, the process demands it. Vocalising the depths of our grief can allow it to escape from us. The most important thing in life is keeping the ones you love close to you. Hang on to them. They are your safety, and your home, no matter where you are in the world. They are your rescue in the darkest moments. Be strong. Talk to people. Reach out. Ask for help. Let it all out. Even if you need to scream from the rooftops, let the pain go. BEST MOMENTS ‘I was so distracted with home life that I couldn’t concentrate at school’ ’The past can never really be buried forever’ ‘I just want to say men are worse!’ ‘I always feel as though she was my angel ‘Life is so precious, and people really just don’t get it’ ‘We’re brothers and sisters, all of us' VALUABLE RESOURCES HKA Main landing page www.hastingskickboxing.co.uk/kickstartnow YouTube  https://www.youtube.com/user/Hastingskickboxing HKA Facebook page  https://www.facebook.com/Hastingskickboxing Adult community link  https://m.facebook.com/groups/274624209886110?ref=share  ABOUT THE HOST Hi, my name is Carl Denne.   I was born in Hastings 1980. Married, father of two beautiful daughters, Bethany and Leigha.  My daughters, the wife, and gym ARE MY LIFE. IF I’M HONEST, I pretty much failed at school. Heavily dyslexic, I was dismissed for being a “naughty kid” that didn’t want to learn. I was heavily bullied for having shit clothes and ginger afro hair. I didn’t have many friends.  When I say bullied I don’t mean called a “poo-poo head” and being looked at in a nasty way. I mean thrown down stairs, and hit with chairs and tables. Clothes were stolen whilst in the shower. That kind of bullying… Oh, how things have changed…  Martial arts, and specifically Kickboxing, have changed my life, and now I am much happier and change other people’s lives for the better on a daily basis.  I am a complete adrenaline freak, so In my spare time, track days, jumping out of planes, sitting on top of them, rage buggies in the desert… The higher, the faster the better for me. I’m always looking for the next thing to get my blood pumping, so if anyone has a challenge I’ve not found yet, please feel free to share.  I do like a Saturday night movie night, Chinese, Netflix, lots of chocolate with my three little ladies. I love being around my friends and family. This is why I love the crazy HKA family so much, as this is my extended family.    I left school with pretty much nothing! A few sad GCSE’s C - D grade, BUT I did have a shit-ton of energy and passion to achieve, and to prove all the teachers and people that looked down on me for all them years, wrong. So after a few jobs here and there, I settled on working for Openreach (BT) as a cabler/jointer copper and fiber optic multi-skilled engineer with HGV. I left this in 2015 to chase my dream of running my own Kickboxing Academy and working with the future of today, rather than a job that just paid the bills.  I’ve trained pretty much my whole life: Karate, boxing, Judo, from the age of 9, and of course, I’ve now done over 29 years of Kickboxing. I’ve passed many Instructors and coaches courses, attended many training courses and seminars, grading up through the syllabus. I passed my 4-hour hell-on-earth 3rd Dan black belt in July 2018 with the ICO. If I’m honest my real passion and skills have come from learning the hard way; through being in the trenches. I know how it feels to be on your arse. I know how it feels to have to pull yourself out of the pit. I’ve been through a divorce. I’ve lived through the pain and have worked with thousands of members, students, children, teachers and adults over the years, and the one thing I get told every time is how well I/we keep it very real, and that I have a complete understanding on most eventualities.  Thank you for reading and listening. I hope you connect with myself and the team, take away some ideas, understand you’re not alone, and that it’s good to talk, listen and help others as and when you can.    CONTACT METHOD   See omnystudio.com/listener for privacy information.

Progeria is an extremely rare genetic disease that practically speeds up time. It affects young children who get it due to a mutation from a very specific Gene, the LMNA gene. Tune in for more!ScrubCaps: A Health and Medical Podcast Every Monday!Visit my Website: https://www.brainontheloose.comLeave a Review on Apple Podcasts: https://podcasts.apple.com/us/podcast/scrubcaps-a-health-and-medical-podcast/id1442030058References: https://www.progeriaresearch.org/about-progeria/ https://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome https://www.mayoclinic.org/diseases-conditions/progeria/diagnosis-treatment/drc-20356043 Support the show (http://patreon.com/ Nathanhidajatscrubcaps)

Check out the Best Restaurants around & save $10 off your order with FoodieCards! FoodieCards are a real “playable” deck of cards.Each card deals out $10 off your meal at 54 of the Best Restaurants in the Toledo area, dealing out over $500 in value! Our 2020 FoodieCards deck is valid NOW through the end of 2020! Order yours Today!Progeria is a rare, fatal, “rapid aging” disease. Without the discovery of new treatments, all children with Progeria will die of heart disease at an average age of 14 years. The Progeria Research Foundation (PRF) was founded in 1999 in response to the complete lack of progress being made to help children with Progeria.Our original mission: to discover the cause, treatments and cure for Progeria.* Today, PRF continues to be the only organization in the world solely dedicated to this mission. We have filled a void, taking these children out of the background where they had been for over 100 years and putting them and Progeria at the forefront of scientific efforts. For more information check our The Progeria Research Foundation Website.Get yours atcardsforkids.foodiecards.org

Toons ouders hadden lang uitgekeken naar de geboorte van hun eerste zoon. Maar Toon maakt een lastige start. Na verschillende onderzoeken valt de diagnose: de ziekte van Progeria. Hij zal nooit ouder worden dan 12. Moeder Liesbeth kijkt ondanks het verlies toch vooral met veel dankbaarheid terug op de jaren die ze wel met hem had. Anders Nabij is een vijfdelige podcast van audiomaker Eva Droogmans.Meer info op www.andersnabij.be.

El Dr. Frank G. Hammond, Médico Genetista, conversa con Peter T. sobre la progeria (síndrome de envejecimiento prematuro o Hutchinson-Gilford) y las esperanzas que ofrecen recientes investigaciones para quienes sufren esta condición, en la sección de ciencia y salud de TecnologiaHechaPalabra.- -El eminente investigador y academico de Genética Médica en la Universidad Lisandro Alvarado de Barquisimeto, detalla las características de la progeria, que la produce y su incidencia, además, asoma importantes desarrollos de la investigación médica que podrían ralentizar el deterioro característico del envejecimiento prematuro.- - -Duración = 00:25:35.- - - - - -Artículos relacionados:- Progeria (http://www.tecnologiahechapalabra.com/salud/especialidades/articulo.asp?i=7244).- Medicina regenerativa: avances en celulas madres contra la progeria (http://www.tecnologiahechapalabra.com/salud/salud_instante/articulo.asp?i=7200).- Esperanza contra la progeria y para ralentizar el envejecimiento (http://www.tecnologiahechapalabra.com/ciencia/actacientifica/articulo.asp?i=7243).- Nuevos avances contra el envejecimiento (http://www.tecnologiahechapalabra.com/ciencia/biociencias/articulo.asp?i=10803).- The Curious Case of Benjamin Button (http://www.tecnologiahechapalabra.com/entretenimiento/record_report/cinevideo/articulo.asp?i=3464).

In this episode, Dr J and his super-friends return to once again cover medicine in comic books, just in time for the San Diego Comic Convention. Along the way, they discuss a CPR song from the dark side, the curious case of Benjamin Button, Progeria, Terminal Leukodystrophy and reverse mental aging, parallels between Dirk Gently's Pararibulitis and fibromyalgia, pain gating syndromes, soul sucking energy vampires, SPLIT and dissociative identity disorder, somatization, Professor X's poor parenting skills, evil twins, mutant regeneration, why wolverine is so hairy, scientist naming conventions, marvel versus dc, catwoman and toxoplasma, medical resurrection, a head transplant update and more! So Sit back and prepare to enjoy our super medical San Diego ComicCon Homecoming! Contact Us! Twitter: @doctorjcomedy @toshyfro Facebook: https://www.facebook.com/travelmedicinepodcast Squarespace: https://www.travelmedicinepodcast.squarespace.com YouTube: https://www.youtube.com/playlist?list=PLr4fcpX27x2vcJT_zJq6qiBy0pK8WiEXe Patreon: https://www.patreon.com/travelmedicinepodcast Google Voice: (872) 216-1586 Find and Review Us! itunes: https://itunes.apple.com/us/podcast/episodes-travel-medicine-podcast/id914407095 stitcher: http://www.stitcher.com/podcast/travel-medicine-podcast?refid=stpr

La progeria comporta l'invecchiamento precoce dell'organismo. Non ci sono cure, ma dalla tecnica CRISPR arrivano risultati promettenti

La tertulia semanal en la que repasamos las últimas noticias de la actualidad científica. En el episodio de hoy: Operación Rescate: Nos vamos a Marte a liberar a Opportunity; Ecofísica para el modelado de la evolución lingüística; Creando textos con una IA; CRISPR para el tratamiento del síndrome Hutchinson–Gilford, o progeria; Primera imagen 3D de viroides; Guiando el crecimiento neuronal. En la foto, de arriba a abajo y de izquierda a derecha: Ignacio Crespo, Sara Robisco, Bea Ruiz, Héctor Socas, Carlos Westendorp. Todos los comentarios vertidos durante la tertulia representan únicamente la opinión de quien los hace… y a veces ni eso. CB:SyR es una colaboración entre el Área de Investigación y la Unidad de Comunicación y Cultura Científica (UC3) del Instituto de Astrofísica de Canarias.

La tertulia semanal en la que repasamos las últimas noticias de la actualidad científica. En el episodio de hoy: Operación Rescate: Nos vamos a Marte a liberar a Opportunity; Ecofísica para el modelado de la evolución lingüística; Creando textos con una IA; CRISPR para el tratamiento del síndrome Hutchinson–Gilford, o progeria; Primera imagen 3D de viroides; Guiando el crecimiento neuronal. En la foto, de arriba a abajo y de izquierda a derecha: Ignacio Crespo, Sara Robisco, Bea Ruiz, Héctor Socas, Carlos Westendorp. Todos los comentarios vertidos durante la tertulia representan únicamente la opinión de quien los hace… y a veces ni eso. CB:SyR es una colaboración entre el Área de Investigación y la Unidad de Comunicación y Cultura Científica (UC3) del Instituto de Astrofísica de Canarias.

Sarah & Katrena talk about Fatbergs, the Glass Delusion, Progeria, Alien Hand Syndrome, and the Water Allergy.

FoodieCards are a real “playable” deck of cards. Each card deals out $10 off your meal at 54 of the Best Restaurants in the Toledo area, dealing out over $500 in value!Progeria is a rare, fatal, “rapid aging” disease. Without the discovery of new treatments, all children with Progeria will die of heart disease at an average age of 14 years. The Progeria Research Foundation (PRF) was founded in 1999 in response to the complete lack of progress being made to help children with Progeria.

In this episode, Dr J and his super-friends return to once again cover medicine in comic books, just in time for the San Diego Comic Convention. Along the way, they discuss a CPR song from the dark side, the curious case of Benjamin Button, Progeria, Terminal Leukodystrophy and reverse mental aging, parallels between Dirk Gently's Pararibulitis and fibromyalgia, pain gating syndromes, soul sucking energy vampires, SPLIT and dissociative identity disorder, somatization, Professor X's poor parenting skills, evil twins, mutant regeneration, why wolverine is so hairy, scientist naming conventions, marvel versus dc, catwoman and toxoplasma, medical resurrection, a head transplant update and more! So Sit back and prepare to enjoy our super medical San Diego ComicCon Homecoming! Contact Us! Twitter: @doctorjcomedy @toshyfro Facebook: https://www.facebook.com/travelmedicinepodcast Squarespace: https://www.travelmedicinepodcast.squarespace.com YouTube: https://www.youtube.com/playlist?list=PLr4fcpX27x2vcJT_zJq6qiBy0pK8WiEXe Patreon: https://www.patreon.com/travelmedicinepodcast Google Voice: (872) 216-1586 Find and Review Us! itunes: https://itunes.apple.com/us/podcast/episodes-travel-medicine-podcast/id914407095 stitcher: http://www.stitcher.com/podcast/travel-medicine-podcast?refid=stpr

Editor's Summary by Howard Bauchner, MD, Editor in Chief of JAMA, the Journal of the American Medical Association, for the April 24, 2018 issue

BookSpeak Network Sunbury Press Books Show Lawrence Knorr hosts authors Jake Gronsky and David Bohner whose "A Short Season" has been released and has climbed to #1 in its category on Amazon.  About the Book: A Short Season: Faith, Family, and a Boy's Love for Baseball In A Short Season: Faith, Family, and a Boy's Love for Baseball, Dave Bohner, the story’s narrator and Grandfather to Josiah, and Jake Gronsky, former professional baseball player with the St. Louis Cardinals organization, tell the powerful story of Josiah Viera’s fight for life that not only sparked a family's journey towards healing but inspired a generation of baseball players from one of the most historic organizations in Major League Baseball.    A Short Season is a story of hope; a story of acceptance; and a story of faith based on the idea that sometimes a person’s only journey to peace is first trekked through pain. A Short Season is a family’s journey through sorrow and joy, it is a baseball team’s inspiration, and it is the story of one exceptional child’s ray of hope that changed all of their lives forever.

Episode 8 is Part 2 of Mandy and Nolan’s story. If you haven’t listened to Part 1, head on over to Episode 7 so you have a better understanding and appreciated for Mandy’s story. I mentioned that Nolan was scheduled for surgery and I’m sure you’re interested in an update… and this is directly from Mandy: The doctors were able to perform a scope of his airway to identify the obstruction that is causing the apnea; however, after getting a closer look at just how constricted his airway is, they decided they could not safely proceed with the surgery. We are now discussing a more involved approach to the surgery and exploring other options all together. We are disappointed but thankful to be working with a team of doctors so dedicated to finding solutions for our one in a billion patient. On this week’s episode, we learn how incredible Mandy and Nolan are and how MadB does not define him as a child. Mandy talks honestly and candidly with us about what it’s like to live with a child like Nolan and how the experience parallels emotions that she had in high school when she lost her mom to cancer. Mandy shares real stories about how others treat and react to Nolan, and she also talks about how incredibly adorable Nolan is and some of his favorite things: trucks, books, and a Bob Marley song. Mandy also gives incredible advice about what she and her husband do to cope and gives these suggestions for other families feeling isolated by an illness or diagnosis: 1) Go hug your child and keep loving them - the diagnosis doesn’t define your child. 2) Try not to get too focused on the future, focus on making the most out of the present. 3) Don’t go through it alone. 4) Learn everything you can about your child’s diagnosis so you know that you’ve made the best decision you can.  If you would like to reach out to Mandy, please message me and I will get you in touch with her through email. Thank you to Gruene Photography for the beautiful pictures of Mandy, Nolan and their family. We can’t thank you enough for taking the time to give Mandy and her family these gorgeous photos that they will keep forever. If you are near New Braunfels or Gruene, Texas, go book Gruene Photography. Follow her on Instagram or Facebook. Thank you to Stephanie Sobic Gauthier for help in the storyline editing of this episode. Please subscribe to the Child Life On Call Podcast and leave a review on iTunes. If you would like to share your story or have questions about this podcast, you can email info@childlifepodcast.com or submit your information via the website childlifepodcast.com.

Episode 7 features the first part of Mandy’s story. Her son, Nolan, was born five weeks early with a host of symptoms which led them to find that he was diagnosed with a condition that only four other people are currently living with. Nolan is the ninth person in the history of medical science that has been diagnosed with Mandibuloacral Dysplasia Type B (Mad B). In part one of Mandy’s story, she talks to us about how doctors and specialists eventually came to diagnose Nolan. It ended up being an unsuspecting doctor appointment with a Dermatologist who had studied Progeria in medical school who wrote the diagnosis on a sticky note that led them to this rare condition. Part two of Mandy’s story will be available next Monday morning when she talks about what living with a child who has Mad B is like, how undeniably amazing Nolan is, and how she and her family cope with it. Thank you to Gruene Photography for the beautiful pictures of Mandy, Nolan and their family. We can’t thank you enough for taking the time to give Mandy and her family these georgeous photos that they will keep forever. If you are near New Braunfels or Gruene, Texas, go book Gruene Photography. Follow her on Instagram or Facebook. Thank you to Stephanie Sobic Gauthier for help in the storyline editing of this episode. Please subscribe to the Child Life On Call Podcast and leave a review on iTunes. If you would like to share your story or have questions about this podcast, you can email info@childlifepodcast.com or submit your information via the website childlifepodcast.com.  

Miles är den enda i Sverige med progeria. En ovanlig sjukdom som innebär att hans kropp åldras mycket snabbt. Forskare hoppas kunna hitta en medicin som kan bromsa förloppet. Progeria beror på en mutation och leder till extremt snabb celldöd. Barnen tappar håret och lider av typiska ålderskrämpor som stelhet i leder. De riskerar också att drabbas av benskörhet, hjärtsjukdom och stroke. Martin Bergö, professor vid Karolinska Institutet, testar just nu ett nytt behandlingssätt på möss, om det visar sig vara framgångsrikt kan det leda till en ny typ av läkemedel. Kanske, kan sjukdomen progeria också lära oss mer om hur vårt naturliga åldrande fungerar. Vi berättar också om forskning för att stoppa naturligt åldrande, vi kan bota många åldersrelaterade sjukdomar men när kan vi stoppa själva åldrandet i sig? Brun Ulfhake och Agneta Nordberg, professorer vid Karolinska Institutet, kommer till studion.

In this episode, Dr J and his super-friends return to once again cover medicine in comic books, just in time for the San Diego Comic Convention. Along the way, they discuss a CPR song from the dark side, the curious case of Benjamin Button, Progeria, Terminal Leukodystrophy and reverse mental aging, parallels between Dirk Gently's Pararibulitis and fibromyalgia, pain gating syndromes, soul sucking energy vampires, SPLIT and dissociative identity disorder, somatization, Professor X's poor parenting skills, evil twins, mutant regeneration, why wolverine is so hairy, scientist naming conventions, marvel versus dc, catwoman and toxoplasma, medical resurrection, a head transplant update and more! So Sit back and prepare to enjoy our super medical San Diego ComicCon Homecoming! Contact Us! Twitter: @doctorjcomedy @toshyfro Facebook: https://www.facebook.com/travelmedicinepodcast Squarespace: https://www.travelmedicinepodcast.squarespace.com YouTube: https://www.youtube.com/playlist?list=PLr4fcpX27x2vcJT_zJq6qiBy0pK8WiEXe Patreon: https://www.patreon.com/travelmedicinepodcast Google Voice: (872) 216-1586 Find and Review Us! itunes: https://itunes.apple.com/us/podcast/episodes-travel-medicine-podcast/id914407095 stitcher: http://www.stitcher.com/podcast/travel-medicine-podcast?refid=stpr

The late 18 year-old Ontlametse Phalatse, who lived with Progeria disease, lived an inspirational life. This is according to multitudes of people who turned out for her memorial service in Hebron, North West. Phalatse died last week at Steve Biko Academic Hospital in Pretoria after complaining about breathing complications. She was due to attend president Jacob Zuma's birthday celebrations. Many people from all walks of life attended the memorial service at Mmamotshe Modutwane high school in Hebron. Maluti Obuseng report

Today Ken welcomes actor, podcaster Matt Gourley to the show. Ken and Matt discuss Matt's homey East Coast style West Coast home, the special nature of Fall Previews, birthday TV, personalized baseball racks, the TV Guide/Toaster vs. the TV Week/Toaster Oven split, It's a Living, The Bonaventure Hotel, Revolving Restaurants, Doin' Time on Planet Earth, Divorce tripling your TV Time, On TV, Cable Guides, deceptive movie artwork, growing up in LA, witnessing Masters of the Universe being filmed first hand, Tenspeed and Brownshoe, a world of Cannonball run bloopers, The Dom Delouise Show, High Ice, Shakespeare on TV, Henry VIII, empathy for Progeria, Family Plot, "pilot", Gilligan's Island, Bruce Vilanch's world, The Future, synesthesia, Three's Company, pretending to be your own twin, John Ritter in Real Men, Love Sydney, Tammy Faye Baker, Jim J Bollock, Too Close for Comfort, rape on TV, Very Special Episodes, Diff'rent Strokes, Danny Cooksey, stuttering M.A.S.K.s, clams, Ecdysiasts, Real People vs. That's Incredible!, Rusty Miller's Star Wars Book, TV Writer Jeremy Reems, cross dressing Mr. Drummond, actual Twins, SCTV, Best of the West, William Sanderson vs. Tracy Walters vs. William Sadler, Nova, public school sexual education, the original Pee Wee Herman Show, shipbuilders, Elizabeth Montgomery, "Someone I Touched", Benson, Saturday Morning Preview Specials, Blackstarr, Thundarr the Barbarian, The Incredible Hulk, It's a Living, First Run Syndication, Jennifer Slept Here, Mr. Merlin, and the magical wonder of Guich Koock.

    Dr. Lam: Welcome to Circulation on the Run. Your weekly podcast summary and backstage pass to the Journal and it's editors. I'm Dr. Carolyn Lam, Associate Editor from the National Heart Center, and Duke National University of Singapore. Dr. Sanjay Kaul and Darren McGuire will be joining me in just a moment to share their perspectives on the EMPA-REG OUTCOME trials. Are the results with empagliflozin in diabetic patients at high risk, are they too good to be true. First, here are the highlights from five original papers in this week's issue. The first paper is from Dr. Gilboa, from the National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention in Atlanta, Georgia, and Dr. Marelli from the McGill Adult Unit for congenital heart diseases in Montreal, Quebec, and colleagues. These authors recognize that because of advancements in care there has been a decline in mortality from congenital heart defects over the last several decades. However, there are still no current empirical data documenting the number of people living with congenital heart defects in the United States. These authors address this gap in knowledge by using prevalence data from Quebec, Canada, in the year 2010, as a foundation for a mathematical model, and estimated that in the United States in the year 2010, approximately 2.4 million people, including 1.4 million adults, and 1 million children were living with congenital heart defects. This estimate is significant, because it corresponds to a 63% increase in the estimated size of the adult population with congenital heart defects in the United States since the year 2000. This has significant implications for resource allocation for health services delivery that will need to account for this growing population of adults with congenital heart defects. The second paper is from first author Dr. Tabot, and corresponding author Dr. Liao, from the University of Chicago, and colleagues who aim to understand better the common complication of angiodysplasia leading to nonsurgical bleeding in patients with left ventricular assist devices. The authors studied 101 patients with heart failure, left ventricular assist devices, or orthotopic heart transplants. They found that compared to patients with heart failure, or transplant patients, patients with left ventricular assist devices had elevated serum levels, and endothelial expression of angiopoietin-2, which is a potent angiogenic mediator. Elevated levels of angiopoietin-2 in these patients increase angiogenesis in vitro, and were associated with bleeding events. Furthermore, they found that increased thrombin levels in left ventricular assist device patients were associated with elevated angiopoietin-2 levels. In aggregate, therefore, the results indicate that high levels of thrombin induced endothelial angiopoietin-2 expression, which may then contribute to angiodysplasia and non-surgical bleeding in patients with left ventricular assist devices. The clinical implications are that clinical studies angiopoietin-2, and factor 12 inhibitors may therefore be indicated to prevent nonsurgical bleeding in patients with left ventricular assist devices. The third paper is Dr. Gordon from Hasbro Children's Hospital in Rhode Island, and Dr. Kieran from the Dana Farber Cancer Institute in Boston, Massachusetts, and colleagues who addressed the Hutchinson Gilford Progeria Syndrome. An extremely rare, fatal segmental premature aging syndrome, where without specific treatment, death usually occurs at an average age of 14 1/2 years from an accelerated atherosclerosis. A PRIA single arm clinical trial has demonstrated that the protein farnesyltransferase inhibitor, Lonafarnib, ameliorates some aspects of cardiovascular and bone disease in this syndrome. The current trial sought to further disease outcomes by additionally inhibiting progerin prenylation using pravastatin and zoledronic acid on top of Lonafarnib in 37 participants with the Progeria syndrome. Results showed that the composite primary study outcome of increased rate weight gain and decreased carotid artery echodensity was achieved. Overall, participants experienced increased bone density, size, and structural properties. However, unlike the PRIA single arm Lonafarnib monotherapy trial, mean carotid-femoral pulse wave velocity and mean carotid artery adventitial echodensity were not improved. In addition, rates of carotid and femoral artery plaques and extraskeletal calcifications all increased. In summary, compared PRIA Lonafarnib monotherapy treatment, additional bone mineral density benefit, but likely no additional additional cardiovascular benefit was obtained with the addition of pravastatin and zoledronic acid. The authors concluded that since increased bone fracture is not a disease feature, the addition of a combination of statin and biphosphonate to Lonafarnib therapy is not recommended for clinical treatment of Progeria syndrome. However, it is reasonable to consider statins if concurrent lipid abnormalities need to be treated. This paper is accompanied by an excellent editorial by Dr. Francis Collins, who describes our journey in seeking a cure for this rare disease of Progeria. The fourth paper is by first author, Dr. Grisenti and corresponding author Dr. Tilley from Lewis Katz School of Medicine, Temple University in Philadelphia, and colleagues who aimed to better understand the role of leukocyte expressed beta-2 adrenergic receptors in regulating immune cell responses to acute cardiac injury. The authors achieved this aim by studying wild type mice who were irradiated, and then transplanted either with isoform specific beta adrenergic receptor knock out bone marrow, or wild type bone marrow. These chimeric mice, after full reconstitution then underwent myocardial infarction surgery. Results showed that immune cell specific beta-2 adrenergic receptor expression was essential to the repair process following myocardial infarction. In the absence of beta-2 adrenergic receptors, vascular cell adhesion molecule-1 expression was increased in leukocytes, inducing their splenic retention following injury, and leading to impaired scar formation, followed by rupture and death. Splenectomy partially restored the beta-2 adrenergic receptor deficient leukocyte infiltration into the heart, but gene therapy to rescue the leukocyte beta-2 adrenergic receptor expression completely restored all injury responses back to normality. This study is clinically important because it highlights a bit of a tension that we're facing. On the one had, beta adrenergic receptors are known to regulate cardiac function and remodeling following myocardial injury, by their effects through cardiomyocytes. That's why we use beta blockers to prevent, at first, cardiac remodeling. However, the current studies now indicate that inhibition or deletion of the immune cell expressed beta-2 adrenergic receptor causes leukocyte dysfunction, and impaired immunomodulatory responses to myocardial injury. These results may, therefore, have implications on the use of beta blockers around the time of acute myocardial injury, such as myocardial infarction, or perioperatively. This is really an area that needs further research and understanding. The fifth paper is by Dr. Herman, from the hospital of the University of Pennsylvania, and colleagues who report on the one year clinical outcomes of SAPIEN 3 transcatheter aortic valve replacement in high risk and inoperable patients with severe aortic stenosis. Now, as a refresher, in the initial partner trial of transcatheter aortic valve replacement for high risk and inoperable patients with severe symptomatic aortic stenosis, there was a demonstration of marked survival advantage compared to medical management ... But a high one year mortality of 24% in the high risk, and 31% in inoperable patients. More recently, the lower profile SAPIEN 3 prosthesis system has become available. Which has a balloon expandable cobalt chromium frame, with bovine pericardial leaflets, and an external fabric seal. The early 30 day outcomes of this system have been reported, and show a very low rate of adverse events. The current study now reports the one year survival, and showed that all cause survival was more than 85% for all patients, above 87% in the high risk, and above 82% in the inoperable subgroups. Furthermore, there was a high rate of transfemoral access at 84%, and a high all cause and cardiovascular one year survival in the high risk transfemoral subgroup of 89% and 93%, respectively. Between 30 and 365 days, the incidence of moderate perivalvular aortic regurgitation did not increase. There was no association between mild perivalvular leak and one year mortality. Although, a small increase in disabling stroke occurred. These results, which likely reflect device iteration and procedural evolution, support the use of Taver as a therapy to consider in high risk and inoperable patients with aortic stenosis. Those were the highlights from this week's issues, and now for our feature paper. We will be discussing the perspective paper entitled "Is the Mortality Benefit With Empagliflozin in Type 2 Diabetes Too Good to be True?". To discuss this, we have two very special guests. First, Dr. Sanjay Kaul, writer of this paper, and from Cedars-Sinai Medical Center. Second, Dr. Darren McGuire, deputy editor of circulation from UT Southwestern. Welcome, Sanjay and Darren. Dr. McGuire: Thanks, Carolyn. Dr. Kaul: Thank you, Carolyn. Dr. Lam: To start us off, I'd really love if Darren could please introduce this new content category of circulation. Frame of reference section, of which this is one of the papers, a perspective article. Dr. McGuire: Sure, so we envisioned, as we're evolving circulation to our new editorship, an opportunity for authors, luminaries in the field, to give us in a very encapsulated form, a laser focus perspective on a specific topic. These come in two flavors, the perspectives piece, which this is, is a little more evidence and scientific quantitatively based. Then we'll also have a section called on my mind, which is more of a free-flowing opinion editorial targeting possibly a contentious or controversial issue. These are going to be very short, and hopefully very entertaining, and kind of teasers for the readership of the Journal. Dr. Lam: Sanjay, you made it very personal, and I like that, too. Share with us how this idea came about. Dr. Kaul: Well, I was very impressed at the reception that the results of the EMPA-REG outcome trial received at the EAST meeting at Starcom last year. While I was witnessing the applause, I had polar reactions. On one hand, I thought that after nearly five decades of trials with checkered history, with regards to cardiovascular outcomes, here we have for the first time a trial demonstrating not only cardiovascular benefit, but a mortality benefit. I thought maybe it's time to take the trumpets out and sort of herald this holy grail, which we had failed to achieve. On the other hand, realizing that we had been fooled before many times by trials, yielding implausibly large treatments actually, that were never replicated at subsequent trials. I had a skeptical response to it, and sort of asked this question rather tongue-in-cheek, or maybe used as a rhetorical tool to address whether this mortality benefit was too good to be true. Dr. Lam: You know, you didn't just question it. You examined the data, and provided even more evidence. That's what I was impressed with in your paper. That table where you provided base factor, as well as a Bayesian analysis. Could you break that down for us, and explain what you found? Dr. Kaul: Yes, I was trying to sort of examine the strength of the evidence, in terms of the quantitative aspect. Yes, the effect size for the cardiovascular benefit was quite impressive. For the primary endpoint, which was a compositive cardiovascular, death, non-fatal MI, and non-fatal stroke, the p-value was not very robust. It was .04. The p-value tends to overestimate the strength of evidence. I utilized base factor, which basically is a metric that allows the two competing hypotheses to predict the data. Using the base factor, I was able to demonstrate that the alternative hypothesis was stronger than the null hypothesis by eight-fold. The p-value of .04 translated into a base factor of .13. Which is not strong evidence against the null hypothesis. It requires independent confirmation and subsequent trials. A p-value of .04, while meeting the superiority criteria, would not be sufficient enough to meet the FDA's requirement of substantial effectiveness. Substantial effectiveness just basically means that the FDA requires two trials, each with a p-value less than .05. In 1998, they modified their regulatory requirement, and accepted that one single trial would be sufficient, provided that there would be a persuasive p-value. Persuasive basically is defined as a p-value less than .001. The base factor allows us to sort of interpret the strength of the evidence, with respect to the primary composite endpoint was not strong enough to meet this requirement. With respect to cardiovascular mortality, as well as all cause mortality, which trumps all other endpoints, it was persuasive enough. Dr. Lam: What's your conclusion on that? Dr. Kaul: What is controversial about that was that in the three specified statistical plan, the so-called hierarchical testing strategy, the non-inferiority for three point MACE, followed by non-inferiority for four point MACE, and followed by superiority of three point MACE, and lastly, superiority of four point MACE. Because the p-value of four point MACE superiority was .08, one can argue purely from a statistical perspective that you stop your testing strategy, and any analysis beyond that would be deemed exploratory. Even though cardiovascular mortality and all cause mortality was prespecified, the purist would argue that since you failed superiority for four point MACE, you really can't proceed further. You can analyze, but it will be considered an exploratory analysis. I sort of wept and said that because Christopher Columbus had prespecified that he will be discovering the route to India, the fact that he stumbled upon America does not mean it doesn't exist because he had not prespecified it. I think all cause mortality is the most meaningful endpoint, and the least subjective measurement error. It meets the key attributes of regulatory decision making. Which it's prespecified, it's highly persuasive, therefore, it meets the replication criteria, and the p-value is so robust that even if you adjust for nearly 100 multiple comparisons, the p-value would still hold. It meets all the regulatory criteria for approval. Dr. McGuire: Sanjay, let me just chime in here. I think it's also important, not only were these prespecified, but it's important, I think, for readers of these diabetes programs to realize that hospitalization for heart failure ... Although it's not part of the primary outcome ... In virtually every one of these trials, it is prospectively collected, chartered to find, and essentially adjudicated by blind endpoint adjudicators. You know, death is death. Cardiovascular death in these programs are all adjudicated, as well. I think the prospective collection and central adjudication also adds legitimacy to the hospitalization for heart failure are above and beyond the analytic issues. Dr. Lam: Darren and Sanjay, I hear both of you kind of saying it does look like, even looking at it from different angles, the data do look strong. At the end of the day, Sanjay, you concluded that it does need another trial. Results do need to be replicated. That was your conclusion. I'd love to hear Darren's take on this. Dr. McGuire: I think what Sanjay is saying there, and I think what we all believe, was we would really love to see this observation with another member or members of the class. We're learning a lot in hindsight based on these observations, and people are exploring potential mechanistic underpinnings. We're learning a lot about the mechanisms of these medications, above and beyond their glucose uric effects. There's a lot of implication about renal physiology and hemodynamics, and altered myocardial metabolism. I think as Sanjay points out in the paper, some of this looks like a possible arrhythmic effect. We have a lot to learn about this mechanism of action, and whether or not this will be unique to impact gliflozin. It has been publicly announced, Boehringer Ingelheim is planning, they're in the planning phases for heart failure trials with empagliflozin to further explore this signal. I think they will address Sanjay's desire to have some replication in a different patient population. Still, we would love to see these extended into other patient populations. To both extend the use of the medications if they're found, but also provide further confirmation of the observations from EMPA-REG outcome. Dr. Kaul: Carolyn, let me also add, I used the title as a rhetorical tool, as I stated earlier. I do conclude that the mortality data is not likely to be spurious. In the back of my mind, I still have that 1% skepticism that I would like to eliminate, because the findings were totally unexpected, and unprecedented, as we discussed earlier. If all the pathways, including the mechanistic pathways are aligned, I would have substantial reassurance, beyond any reasonable doubt that the findings are true. That's why I'm asking for replication. Not necessarily by empagliflozin in other trials, but by another molecule within the same class. I think that would be sufficient. Dr. McGuire: Yeah, and I think it's really interesting to note there, is that I was involved in the early days of some of these drugs as they're being developed. When the other two members of this class went to the FDA, dapagliflozin and canagliflozin, they provided FDA's requirement and meta analysis from all of the phase 2B and 3 trials that had been completed to date. The meta analysis of the cardiovascular outcomes. Both dapagliflozin and canagliflozin had point estimates of cardiovascular death reduction of 30%, and 35%, respectively. When we saw those data, they were based on 25 to 40 total events. We chuckled, thinking this is spurious, from small events being analyzed. That there's no way they would prevent cardiovascular death. Sure enough, you know, you could almost superimpose those point estimate plots from the phase 2B-3 meta analysis, with the ultimate outcomes from EMPA-REG. There's some promising, although again, very statistically imprecise estimates that this may well be a class effect. As many of the listeners will know, there are ongoing cardiovascular outcomes trials for all of these medications. That will come some time in the next year or two. Dr. Lam: That's fantastic. Thank you both for sharing those perspectives. I mean, I learned so much. I really think, Sanjay, your paper achieved exactly what you had meant for it to achieve, and exactly what circulation was hoping to create the discussion, as well. Dr. McGuire: Thank you, Carolyn. Dr. Kaul: Thank you very much. Dr. Lam: You've been listening to Circulation on the Run. Thank you for listening. Don't forget to join us next week for more highlights and discussions.  

This story on The Rough Draft Diaries was given to us by Lexi Staples and it involves the Kudzia family. Tune in to hear how Heather Kudzia chooses to learn and grow with her daughter's fatal diagnosis of Progeria.For our next interview on The Rough Draft Diaries, Heather wants us to research other rare diseases, talk to firefighter - Jennifer Hill, or nurse manager - Natalie Decker. Listen in Wednesday morning at 7:45 to find out who's next on The RDD. 

Albuquerque upcoming comedian Elena Warden joining Potential Problems Podcast for her first appearance. We learn some of her background, a mention of Progeria leads to a sound clip being played, and then talking about American Horror Story's pinhead character. GG Allin was a legend, so we watch some of his work and critique it. And to end, Rob from The Rob And Slim Show calls in to try and settle a dispute with our producer Cameron over not liking their show. Enjoy!

Kris and Kole talk about fame, drug policy, and the style at the time. Links of Note: Cheese Nips. Progeria ward. Bieber's Weed Plane. The Necknominatikon. Death from above. Horse Viagra. Crack Pipe. Too hot for the internet. Exploding our preconceptions. Billy saves the day. Stop taking pictures. Crime Dogs.

Why tugging on nasal hairs causes crying? What triggers static shocks? Why are computers based around binary? What are blood groups? How can babies have 3 parents? Why is yawning contagious? What happens to excess skin when a person slims? When is a hot bath too hot? Why are some infections more common in winter? Like this podcast? Please help us by supporting the Naked Scientists

Why tugging on nasal hairs causes crying? What triggers static shocks? Why are computers based around binary? What are blood groups? How can babies have 3 parents? Why is yawning contagious? What happens to excess skin when a person slims? When is a hot bath too hot? Why are some infections more common in winter? Like this podcast? Please help us by supporting the Naked Scientists

Nyheter. Rekord-tornadoer og potetpest. Sykdommen progeria fører til at aldringsprosessen skyter fart fra ettårsalderen, og fram til nå har legene hatt lite eller ingenting å stille opp med for disse barna, som sjelden overlever tenårene. Men nå kan forskere ved Sahlgrenska i Göteborg ha funnet en medisin mot sykdommen.

Why do adults smell more than children? How are bionic implants contributing to longevity? What is progeria? How do touch screens work? Why do anti-HIV drugs cause fat redistribution? Why does power = volts x amps? What actually are dark matter and dark energy? Join Dr Chris for the answers to more cool questions from South Africa... Like this podcast? Please help us by supporting the Naked Scientists

Why do adults smell more than children? How are bionic implants contributing to longevity? What is progeria? How do touch screens work? Why do anti-HIV drugs cause fat redistribution? Why does power = volts x amps? What actually are dark matter and dark energy? Join Dr Chris for the answers to more cool questions from South Africa... Like this podcast? Please help us by supporting the Naked Scientists

Martin Faccini reports on the dopamine brain control mechanisms of our parasite overlords, Patrick Rubie reports on the science of sexy perfumes, News by Ian Woolf: - test tube artificial brain passes quiz - Airdrop brings water from thin air - aging in cells of children suffering Progeria is reversed Presented and produced by Ian Woolf

Bernard talks about an upcoming tournament to help fight Progeria, a rapid aging disease effecting children, in the first half of this weeks Bernard Lee Poker Show on Rounders Radio. Then Bernard welcomes the ambassador of poker, Mike Sexton to the show! In the final segment, Bernard discusses the changes being made for this years WSOP.

Bernard talks about an upcoming tournament to help fight Progeria, a rapid aging disease effecting children, in the first half of this weeks Bernard Lee Poker Show on Rounders Radio. Then Bernard welcomes the ambassador of poker, Mike Sexton to the show! In the final segment, Bernard discusses the changes being made for this years WSOP.

Hunting down biomarkers for Alzheimer's diease (0:30), modeling Progeria with iPS cells (10:13), and how yeast spare their daughter cells from toxic aging factors (16:52).

Rock's birthday, the Meagan Fox rebellion, 9mm Hobbes & Dave, David Carradine dead, KuzinRob on women, Progeria kid in Peroria, Eminem is Kurt Cobain, Maria Brink is a hot rocker chick, Bret Michaels and stage blocking, Bangkok is weird, drunk calls, HOTWListen live Sundays 5PM ESTVisit us at www.lunaticradio.comForum: www.lunaticradio.com/boardSubscribe with iTunes!Copyright 2009 Lunaticradio.com