Podcasts about ultra rare

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Best podcasts about ultra rare

Latest podcast episodes about ultra rare

Living With Cystic Fibrosis
Cambrey Vasconez White - rare mutations

Living With Cystic Fibrosis

Play Episode Listen Later Jun 3, 2024 38:33


Cambrey Vasconez White is the mother of toddler Rowland, who has Cystic Fibrosis. If you listened to our podcast with Vicky Maldonado, they have similar  struggles.  Cambrey is also working to find an equitable approach to rare mutations in the U.S. and Canada.  These two women connected, as you'll hear, because their sons share the same mutation.Rowland received  access to a CF modulator after a battle with her insurance company.  Her son's mutation is not on the FDA approved list for Trikafta…. even though there is proof that Trikafta will work on her son's mutation.To follow Cambrey go to @cfadvocacyYou can email her: cambreywhite@gmail.com Please like, subscribe, and comment on our shows, wherever you get your podcasts.Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Thanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/en

The Genetics Podcast
EP 126: Patient-led research for ultra-rare disease drug development with Julia Taravella, Executive Director of Rare Trait Hope Fund

The Genetics Podcast

Play Episode Listen Later Mar 14, 2024 39:41


In this episode, we welcome Julia Taravella, Executive Director of Rare Trait Hope Fund. She founded the organisation 11 years ago when her two children were diagnosed with aspartylglucosaminuria (AGU), an ultra-rare, autosomal recessive, and fatal neurodevelopmental disease. Tune in to learn about her goals for developing a gene therapy cure for the disease, her experiences as a mother raising two children with a terminal illness, and upcoming research developments for AGU.

Living With Cystic Fibrosis
CF Mom Vicky Maldonado talks Ultra Rare CF mutations

Living With Cystic Fibrosis

Play Episode Listen Later Mar 11, 2024 38:14


Canadian, Vicky Maldonado is the mother of a young boy living with a rare genetic form of CF. Sebastian is 6 years old, and a twin. The road to diagnosis was challenging. Sebastian was diagnosed with two rare CF genes after repeated respiratory infections and two hospitalizations. “We were told that Sebastian likely didn't have CF because he's “not White”— his parents are Canadian-born Latinos from Ecuador. Though CF affects all races and ethnicities, there's still a common misconception among health-care providers that it is a predominantly White disease.”Vicky and her husband were devastated to learn that their son would not have access to the life-changing and life-saving drug Trikafta because he has two rare mutations. Due to small populations in rare mutations, clinical trials are often not feasible. Other countries are using in vitro data to provide access to those with rare and ultra-rare mutations while approximately 200 Canadians with CF are being left behind.This is not a new problem in Canada, the pathway to access to new and innovative therapies is fraught with challenges. A broader regulatory approach is needed to support implementation of the National Strategy for Drugs for Rare Diseases, and cystic fibrosis is an example of this need. There are hundreds of disease-causing mutations, some with only a handful of patients worldwide. Health Canada can improve access to rare disease medications like Trikafta by using patient and laboratory in vitro data and by developing a regulatory model that permits bulk approvals of gene mutations that can respond to precision medicines like Trikafta. Please like, subscribe, and comment on our shows, wherever you get your podcasts.Please consider making a donation: https://thebonnellfoundation.org/donate/The Bonnell Foundation website:https://thebonnellfoundation.orgEmail us at: thebonnellfoundation@gmail.com Thanks to our sponsors:Vertex: https://www.vrtx.comViatris: https://www.viatris.com/en

Morning Shift Podcast
One Chicago Family's Fight Against An Ultra Rare Disease

Morning Shift Podcast

Play Episode Listen Later Mar 5, 2024 18:34


When you hear about “rare” diseases, it can be easy to think we're talking about a one-in-a-million case. But actually, the “rare” is far more common than you think. About 1 in 10 Americans suffer from a rare disease. But because there are so many different kinds, getting diagnosed or even treated can be a nightmare of doctor appointments, long wait times on phone calls, and jumping through hoops. That was the case for young Charlie Sims. At just four years old, his parents noticed their son was exhibiting behavioral changes that compelled them to consult a doctor. Now seven years old, Charlie is the first and only person to receive therapy for his rare disease. Reset sits down with his parents, Matt and Leigh Sims, and RUSH pediatric neurologist Dr. Elizabeth Berry-Kravis to find out more about his story, and the importance of advocating for yourself and your family when seeking medical care. For a full archive of Reset interviews, head over to wbez.org/reset.

Progress, Potential, and Possibilities
Michele Herndon and Dr. F. Sessions Cole - Undiagnosed Diseases Network Foundation - Improving Access To Diagnosis, Research and Care For All With Undiagnosed And Ultra-Rare Diseases

Progress, Potential, and Possibilities

Play Episode Listen Later Feb 23, 2024 47:26


The Undiagnosed Diseases Network Foundation ( https://udnf.org/ ) is a patient-led nonprofit organization founded in 2023 committed to improving access to diagnosis, research, and care for all with undiagnosed and ultra-rare diseases, with a focus on fostering collaboration among patients, clinicians, and scientists to enhance the quality of life of undiagnosed and ultra-rare disease patients and their families. Michele Herndon, MSN, RN, is the Program Director of the UDNF's Patient Navigation Program. For the past two decades, she has served as a pediatric nurse, leader, and manager in an academic hospital setting. Michele is also the mother to Mitchell who enrolled in the UDN in 2017 after five years of symptoms. After genetic sequencing and a model organism study using fruit flies, his gene mutation was identified by the UDN. Mitchell died in 2019 from the ultra-rare disease that was ultimately named after him, Mitchell Syndrome. Michele and her family started the Mitchell & Friends Foundation to support families and raise both awareness and money for research into Mitchell Syndrome. Michele lives in St. Louis, MO and is currently working to complete her Doctorate in Nursing Practice at the University of Missouri-Columbia. ​ Dr. F. Sessions Cole, MD is Board Secretary of UDNF and Professor of Pediatrics, Washington University School of Medicine. Dr. Cole is a neonatologist who began studying rare diseases with genomic methods during his fellowship in the laboratory of the late Harvey R. Colten, M.D. and has participated in the discovery of new genetic causes of structural birth defects and of respiratory failure in full-term infants, expanded phenotypes of known genetic diseases, and suggested novel therapeutic strategies. His research has been continuously supported by the National Institutes of Health (NIH) as a Principal Investigator for more than 25 years. Most recently, he led the NIH-funded Undiagnosed Diseases Network (UDN) Clinical Site at Washington University from 2018-2021. He currently co-chairs the UDN's Sustainability Working Group and is leading the UDN's Therapeutic Matching Committee aimed at identifying therapies for rare disease patients. Support the show

Day Trading Academy
January 21: Tesla Best Selling Car Europe, Apple discount IPhone 15, Stocks Record Highs (Recap ep262)

Day Trading Academy

Play Episode Listen Later Jan 21, 2024 15:19


In this week's Recap, Marcello talks about Tesla Model Y seting a record when it became Europe's best selling car for 2023; Apple is offering Ultra-Rare discounts on its flagship iPhone 15 in China amid sliding demand fears; The S&P500 has reached an all-time high for the 1st time un 2 years. According to the Federal Reserve's Beige Book report released Wednesday. U.S. economic activity over the past 7 weeks has been largely stagnant, with both hiring & prices rising at a [...] The post January 21: Tesla Best Selling Car Europe, Apple discount IPhone 15, Stocks Record Highs (Recap ep262) appeared first on Investing & Day Trading Education: Day Trading Academy.

AI Breakdown
GPT-4's Medical Breakthrough: Spotting Ultra-Rare Conditions with Unmatched Precision

AI Breakdown

Play Episode Listen Later Jan 3, 2024 10:54


In this episode, we explore how GPT-4's advanced capabilities are transforming the medical field, specifically its remarkable accuracy in diagnosing a condition with a rarity of 1 in 100,000, showcasing the potential of AI in healthcare. Invest in AI Box: https://Republic.com/ai-box Get on the AI Box Waitlist: ⁠⁠https://AIBox.ai/⁠⁠ AI Facebook Community Learn more about AI in Video Learn more about Open AI

4BC Breakfast with Neil Breen Podcast
Ultra-rare licence plate being auctioned for more than $3 million

4BC Breakfast with Neil Breen Podcast

Play Episode Listen Later Dec 22, 2023 6:23


Lloyd's Auctions Chief Operating Officer, Lee Haymes joined 4Bc Drive with Peter Gleeson to chat about Queensland's ultra-rare 'Q1' licence plates which are going under the hammer for more than $3 million. Haymes explained that a New South Wales heritage plate is going for over $10 million.See omnystudio.com/listener for privacy information.

Disclosed: UFO Files
ULTRA RARE - The Billy Goodman: Bob Lazar Interview

Disclosed: UFO Files

Play Episode Listen Later Nov 24, 2023 101:01


Amazon clothing & accessories you may be interested in? Your Purchase helps this podcast. If you like the content we provide, please click on this link, make a purchase and support Disclosed: UFO Files. Many thanks. Have fun unraveling the mystery!   Amazon games & accessories you may be interested in? Your Purchase helps this podcast. If you like the content we provide, please click on this link, make a purchase and support Disclosed: UFO Files. Many thanks. Have fun unraveling the mystery!   Amazon computers & accessories you may be interested in? Your Purchase helps this podcast. If you like the content we provide, please click on this link, make a purchase and support Disclosed: UFO Files. Many thanks. Have fun unraveling the mystery!   Amazon cell phones & accessories you may be interested in? Your Purchase helps this podcast. If you like the content we provide, please click on this link, make a purchase and support Disclosed: UFO Files. Many thanks. Have fun unraveling the mystery!   Amazon books you may be interested in? Your Purchase helps this podcast. If you like the content we provide, please click on this link, make a purchase and support Disclosed: UFO Files. Many thanks. Have fun unraveling the mystery!   https://www.disclosedufofiles.com    https://www.disclosedufofilesufofiles.podbean.com

Tech and Science Daily | Evening Standard
Could an ultra-rare star collision wipe out life on Earth?

Tech and Science Daily | Evening Standard

Play Episode Listen Later Oct 23, 2023 6:51


A study suggests that an ultra-rare star collision in the Milky Way galaxy could have the capability to wipe out life on Earth.Scientists believe pairs of black holes could be hiding as one.Warnings of more floods and ice after Storm Babet leaves hundreds of homes submerged.Also in this episode:Can this tech stop winter travel chaos? National Highways announce £15.4m in new weather stationsIs Apple planning a surprise October iMac announcement?World's largest-ever asteroid impact crater may be in AustraliaStudy suggests better use of existing drugs increases cervical cancer survivalMark Zuckerberg uses Meta's new AI Ray-Bans to help him with dad duties Hosted on Acast. See acast.com/privacy for more information.

RARECast
A Plea to the FDA to Give an Ultra-Rare Disease Drug a Fair Hearing

RARECast

Play Episode Listen Later Oct 12, 2023 22:56


In 2021, the U.S. Food and Drug Administration notified Stealth Biotherapeutics it would not consider its application seeking approval for elamipretide as a treatment for the ultra-rare mitochondrial disease Barth syndrome. The agency wants the company to produce evidence of the drug's efficacy in a larger population of Barth syndrome patients then it studied, but the company believes it has exhausted the population in the United States of patients who fit the clinical trial criteria. Patients have lobbied the agency to give the drug a hearing, but there is growing concern that if the FDA fails to act, elamipretide will become unavailable to patients, who say the drug has given them the ability to lead a normal life. In an effort to move the FDA, Shelley Bowen, co-founder and director of family services for the Barth Syndrome Foundation, launched a Change.org petition calling on the agency to give a full and fair hearing to the drug. We spoke to Bowen about Barth syndrome, the fight over approval for the first drug to treat the condition, and why it points to a systemic problem with the lack of consistent use of the flexibility Congress granted the FDA to get treatments to patients with ultra-rare diseases.

Epilepsy Sparks Insights
Exciting Research Into The Ultra-Rare Epilepsy: Lafora Disease - Jordi Duran

Epilepsy Sparks Insights

Play Episode Listen Later Oct 3, 2023 13:53


Hear of the ultra-rare, devastating, terminal epilepsy Lafora Disease and the exciting research taking place to try and improve and save the lives of the children affected. With global lead researcher Jordi Duran. ------------------------------------------

Epilepsy Sparks Insights
Ultra-Rare Epilepsy: Lafora Disease - José Serratosa

Epilepsy Sparks Insights

Play Episode Listen Later Oct 1, 2023 10:47


Hear of the ultra-rare, devastating, terminal epilepsy Lafora Disease and the research taking place to hopefully improve and save the lives of the children affected. With lead epileptologist and researcher José Serratosa of the Hospital Universitario Fundación Jiménez Díaz, Madrid, Spain. This is the first of 3 of our episodes re the ultra-rare genetic epilepsy: Lafora Disease. ------------------------------------------

Pharma Intelligence Podcasts
Drug Fix: FTC Ends Amgen-Horizon Case, New Ultra-Rare Cancer Partnership, Generic Applications Lag

Pharma Intelligence Podcasts

Play Episode Listen Later Sep 8, 2023 27:15


Pink Sheet reporter and editors discuss the US Federal Trade Commission ending its attempt to block the Amgen acquisition of Horizon Therapeutics (:28), a proposed public-private partnership to develop ultra-rare cancer drugs (9:54), and a slow-down in ANDA submissions to the US Food and Drug Administration (22:02). More On These Topics From The Pink Sheet FTC's Test Case Opposing Amgen-Horizon Deal Ends With No-Bundling Agreement: https://pink.citeline.com/PS148804/FTCs-Test-Case-Opposing-Amgen-Horizon-Deal-Ends-With-No-Bundling-Agreement Ultra-Rare Tumors: Public-Private Partnership Eyed To Boost Drug Development: https://pink.citeline.com/PS148813/Ultra-Rare-Tumors-Public-Private-Partnership-Eyed-To-Boost-Drug-Development ANDA Submissions Lagging As FY 2023 Nears Its End: https://pink.citeline.com/PS148818/ANDA-Submissions-Lagging-As-FY-2023-Nears-Its-End

Empowered Patient Podcast
Developing Recombinant Protein to Treat Ultra-Rare Hematology Disease cTTP with Dr. Björn Mellgård Takeda

Empowered Patient Podcast

Play Episode Listen Later Aug 21, 2023 20:29


Dr. Björn Mellgård, VP and Global Program Lead of rare genetics and hematology at Takeda, is passionate about finding a cure for cTTP, congenital thrombotic thrombocytopenic purpura.  This ultra-rare disease, caused by an enzyme deficiency, presents in early childhood and results in life-threatening blood clots. With their investigational drug TAK-755, a recombinant enzyme, the volume is very small, and the infusion takes four to five minutes and is a replacement therapy to allow patients to avoid daily symptoms and acute episodes. Björn explains, "What happens then is that we have our coagulation system, and many people have heard about bleeding disorders, mainly probably hemophilia, where you lack certain factors which are important to make the blood clot. TTP is on the other side of the spectrum, and the deficiency we're talking about, this ADAMTS13 enzyme, is also importantly involved in blood coagulation." "But the effect is when you don't have this enzyme present. The blood has a tendency to spontaneously form blood clots in the circulation. And these blood clots then tend to lodge in critical organs such as the brain, the heart, and the kidney, and the patients then suffer symptoms based on that." "So, our drug then represents a recombinant enzyme. So, it's a recombinant protein that is produced in a laboratory. It's exactly the same as we have in our bodies. And this kind of replacement therapy has been used for a long time. And I mentioned hemophilia as an example where Takeda and also other companies have recombinant factor VIII in that case. So, the principle behind this treatment is to give the patient what they're missing. That's pretty straightforward in some sense."  #Takeda #cTTP #TAK755 #RecombinantEnzyme #RareDisease Takeda.com Download the transcript here

Empowered Patient Podcast
Developing Recombinant Protein to Treat Ultra-Rare Hematology Disease cTTP with Dr. Björn Mellgård Takeda TRANSCRIPT

Empowered Patient Podcast

Play Episode Listen Later Aug 21, 2023


Dr. Björn Mellgård, VP and Global Program Lead of rare genetics and hematology at Takeda, is passionate about finding a cure for cTTP, congenital thrombotic thrombocytopenic purpura.  This ultra-rare disease, caused by an enzyme deficiency, presents in early childhood and results in life-threatening blood clots. With their investigational drug TAK-755, a recombinant enzyme, the volume is very small, and the infusion takes four to five minutes and is a replacement therapy to allow patients to avoid daily symptoms and acute episodes. Björn explains, "What happens then is that we have our coagulation system, and many people have heard about bleeding disorders, mainly probably hemophilia, where you lack certain factors which are important to make the blood clot. TTP is on the other side of the spectrum, and the deficiency we're talking about, this ADAMTS13 enzyme, is also importantly involved in blood coagulation." "But the effect is when you don't have this enzyme present. The blood has a tendency to spontaneously form blood clots in the circulation. And these blood clots then tend to lodge in critical organs such as the brain, the heart, and the kidney, and the patients then suffer symptoms based on that." "So, our drug then represents a recombinant enzyme. So, it's a recombinant protein that is produced in a laboratory. It's exactly the same as we have in our bodies. And this kind of replacement therapy has been used for a long time. And I mentioned hemophilia as an example where Takeda and also other companies have recombinant factor VIII in that case. So, the principle behind this treatment is to give the patient what they're missing. That's pretty straightforward in some sense."  #Takeda #cTTP #TAK755 #RecombinantEnzyme #RareDisease Takeda.com Listen to the podcast here

The Loot Bros Podcast
Stranded Deep No Longer Ultra Rare

The Loot Bros Podcast

Play Episode Listen Later Jul 23, 2023 36:56


Huge thanks to Gaz for another rarity update.  Affiliate links: Join Whatnot for amazing LIVE auctions and get $10 free just by using my referral link! https://whatnot.com/invite/residentdarrell Want to sell on Whatnot? Use my referral link! https://whatnot.com/invite/seller/residentdarrell Use promo code "Loot Bros" for 10% off at Ted's Collectibles! https://www.etsy.com/uk/shop/tedscollectibles3 https://linktr.ee/residentdarrell --- Support this podcast: https://podcasters.spotify.com/pod/show/thelootbrospodcast/support

The Loot Bros Podcast
Stranded Deep No Longer Ultra Rare

The Loot Bros Podcast

Play Episode Listen Later Jul 23, 2023 36:56


Huge thanks to Gaz for another rarity update.  Affiliate links: Join Whatnot for amazing LIVE auctions and get $10 free just by using my referral link! https://whatnot.com/invite/residentdarrell Want to sell on Whatnot? Use my referral link! https://whatnot.com/invite/seller/residentdarrell Use promo code "Loot Bros" for 10% off at Ted's Collectibles! https://www.etsy.com/uk/shop/tedscollectibles3 https://linktr.ee/residentdarrell --- Support this podcast: https://podcasters.spotify.com/pod/show/thelootbrospodcast/support

Nick the Rat
EPISODE 395 : Ultra Rare

Nick the Rat

Play Episode Listen Later Jul 19, 2023


Think the Darksewer just bought a lemon that will sink the ship...

Trophy Talk Podcast
Trophy Talk Podcast - Episode 89: Gylty Conscious

Trophy Talk Podcast

Play Episode Listen Later Jul 16, 2023 172:18


Well hello there everybody! Welcome back to another exciting episode of Trophy Talk. For the first time in over a month, the original crew is back together to discuss all your Patreon submitted questions, trophy related news stories, and an assortment of newly released trophy lists. This episode featured some great thought provoking questions for us to dissect and mull over, and we hope that you enjoy listening to us discuss them as much as we enjoyed recording our thoughts. For starters, Colin wants to know what happened with Stranded Deep. The once free with PS+ essential survival game, received a patch recently that makes the platinum easily obtainable in it's new co-op game mode. Is this something that makes sense to go after and how do we feel about this Ultra Rare platinum becoming way more obtainable? From there we discuss great book recommendations, our favorite homecooked meals, gaming soundtracks that we consistently return to, and what our dream jobs are. We dwell on these topics for quite some time as they were a lot of fun. Finally we close up shop with three trophy list reviews. Colin is optimistic about all things Capcom recently, including the Exoprimal trophy list. Slugger continues his love of rogue lite / like games with Rogue Legacy 2, and Darryl continues to find fun survival horror indie games in his review of Gylt. We sincerely thank you for listening, and for your support. We'll be back in two weeks time with a very exciting episode of what we've been playing, we'll reveal more details on that in the coming week or so. Take care, and happy gaming! =)

Empowered Patient Podcast
How Genetic Testing and Real-World Evidence Based Research Shed Light on Ultra-Rare Disease FOXG1 with Nasha Fitter FOXG1 Research Foundation TRANSCRIPT

Empowered Patient Podcast

Play Episode Listen Later Jul 7, 2023


Nasha Fitter, CEO and Co-Founder of the FOXG1 Research Foundation and Vice President of Rare and Neurological Diseases at Ciitizen. Nasha describes the characteristics of the ultra-rare disease FOXG1 Syndrome and the global network that has been built to gain a better understanding of this neurological condition. Using real-world evidence, machine learning, AI, and genetic testing are showing a path to finding a treatment.  Nasha explains, "My daughter, Amara, was diagnosed at nine months of age. She began having hundreds of seizures a day. And at that point, there was information known about the FOXG1 gene. It's a really important gene for brain development. But no one was studying the syndrome and how to find a cure for it. So, I and a group of other parents, like-minded parents who, refused to just take that this is the way it is. Our children have this condition, and that's it. We started this foundation." "We've done a lot of work to get the entire world of FOXG1 to work together and then to collect patient data. That leads to my work at Ciitizen, to have all patients join the same platform, take the same surveys, and collect electronic medical records. We extract their data, so it's all on one platform. Again, that helps us understand this disease, which is critical when the population's so small." "In-person studies, which is how we collect data today, as the medical community, don't work for ultra-rare diseases. So we have to find other ways. And that's where real-world evidence comes in."  "We use machine learning and AI at Ciitizen when we're looking at something as simple as extracting data from an unstructured medical record. When you look in medical records, the part that's really interesting is the clinic notes, and they're totally unstructured. They're paragraphs. So can we start using machine learning and AI to go through these paragraphs and actually extract relevant data points to scale up our ability to understand how the disease has progressed?" #FOXG1 #FOXG1ResearchFoundation #Ciitizen #GeneTherapy #RealWorldEvidence #RareDisease #GeneticTesting FOXG1Research.org Ciitizen.com Listen to the podcast here

Empowered Patient Podcast
How Genetic Testing and Real-World Evidence Based Research Shed Light on Ultra-Rare Disease FOXG1 with Nasha Fitter FOXG1 Research Foundation

Empowered Patient Podcast

Play Episode Listen Later Jul 7, 2023 19:04


Nasha Fitter, CEO and Co-Founder of the FOXG1 Research Foundation and Vice President of Rare and Neurological Diseases at Ciitizen. Nasha describes the characteristics of the ultra-rare disease FOXG1 Syndrome and the global network that has been built to gain a better understanding of this neurological condition. Using real-world evidence, machine learning, AI, and genetic testing are showing a path to finding a treatment.  Nasha explains, "My daughter, Amara, was diagnosed at nine months of age. She began having hundreds of seizures a day. And at that point, there was information known about the FOXG1 gene. It's a really important gene for brain development. But no one was studying the syndrome and how to find a cure for it. So, I and a group of other parents, like-minded parents who, refused to just take that this is the way it is. Our children have this condition, and that's it. We started this foundation." "We've done a lot of work to get the entire world of FOXG1 to work together and then to collect patient data. That leads to my work at Ciitizen, to have all patients join the same platform, take the same surveys, and collect electronic medical records. We extract their data, so it's all on one platform. Again, that helps us understand this disease, which is critical when the population's so small." "In-person studies, which is how we collect data today, as the medical community, don't work for ultra-rare diseases. So we have to find other ways. And that's where real-world evidence comes in."  "We use machine learning and AI at Ciitizen when we're looking at something as simple as extracting data from an unstructured medical record. When you look in medical records, the part that's really interesting is the clinic notes, and they're totally unstructured. They're paragraphs. So can we start using machine learning and AI to go through these paragraphs and actually extract relevant data points to scale up our ability to understand how the disease has progressed?" #FOXG1 #FOXG1ResearchFoundation #Ciitizen #GeneTherapy #RealWorldEvidence #RareDisease #GeneticTesting FOXG1Research.org Ciitizen.com Download the transcript here

Sleep Triggers
15 ultra rare & specific asmr triggers in 15 minutes for extreme tingles

Sleep Triggers

Play Episode Listen Later Jun 30, 2023 15:55


15 ultra rare & specific asmr triggers in 15 minutes for extreme tingles Hosted on Acast. See acast.com/privacy for more information.--- Support this podcast: https://podcasters.spotify.com/pod/show/jiom4/supportAdvertising Inquiries: https://redcircle.com/brandsPrivacy & Opt-Out: https://redcircle.com/privacy

My Sister Made Me View It : Roswell 1999
Roswell 1999: Roswell S03E03 Significant Others aka Super Ultra Rare Crossover Event

My Sister Made Me View It : Roswell 1999

Play Episode Listen Later Jun 29, 2023


It's the ULTIMATE STAKES for Isabel. No, not what college is she going to attend, or what car she's going to purchase but…SHOULD SHE GET MARRIED AT 18 AND GET STUCK IN ROSWELL FOR THE REST OF HER LIFE? (What do YOU think she chooses?)

Once Upon A Gene
Developing Personalized Therapeutics for Ultra Rare Patients with La Jolla Labs CEO Jeff Milton

Once Upon A Gene

Play Episode Listen Later Jun 1, 2023 37:35


ONCE UPON A GENE - EPISODE 189 Developing Personalized Therapeutics for Ultra Rare Patients with La Jolla Labs CEO Jeff Milton Jeff Milton is the CEO of La Jolla Labs, a cutting edge RNA therapeutics company that's developing personalized therapeutics for ultra-rare patients. They combine AI, next generation sequencing and RNA biology to generate therapeutics faster.  EPISODE HIGHLIGHTS Can you tell us about yourself and the work you're doing? I've been in RNA therapeutics for 15 years. I took the opportunity to lead La Jolla Labs as CEO. We are taking the lab that was previously locked behind the doors of pharmaceutical companies and making it accessible to anyone in the world. We work directly with foundations and academic groups. We have partnered with n-Lorem Foundation to discover personalized ASO medicines for nano-rare patients.  How are groups taking control over drug discovery? Parents and foundation leaders are accessing data and they're extremely motivated to learn. We provide the first step for them to determine their target and what can be done. We look at the targets and provide several options for them to research and discuss with their scientific liaisons. The cost of discovery is going down and more and more people are going to take control of the discovery. Do the patient advocacy groups that come to you have a lot of money? No, they don't. Most of the groups come to us and we design a plan for their target and disease for free. They take it and build a proposal around it. We are an incubator in that we take the targets, apply models and give it back to them to raise money for the screenings.  How does AI play a role in driving rare disease? Artificial Intelligence will continue to be powerful, but access to data is the key to driving it. It takes a lot of structured data, so AI will eventually work, but there's not enough data right now. But there are things you can do right now like predicting activity for RNA, predict liver toxicity or cell activity in a rodent model. Eventually there will be enough data to link the clinical side to the early discovery side. What can parents and patient advocacy groups do to make it more efficient to access data? Clinical trials are expensive and pharmaceutical companies are resistant to doing it. If you can provide a lot of natural history data to use as their control group, that drastically lowers the cost. Being able to curate and organize that data within a foundation is hugely impactful.  LINKS & RESOURCES MENTIONED La Jolla Labs https://www.lajollalabs.com/ Ionis Pharmaceuticals https://www.ionispharma.com/ n-Lorem https://www.nlorem.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Interested in advertising on Once Upon a Gene? Email advertising@bloodstreammedia.com for more information!

RARECast
How One Foundation Is Laying the Groundwork to Advance Treatments for an Ultra-Rare Disease

RARECast

Play Episode Listen Later May 4, 2023 26:06


A week before Deborah Ondrasik's daughter Gabrielle turned 1, she suffered her first seizure. Within a year, Gabrielle was diagnosed with CACNA1A-related disorder, a rare, neurodegenerative condition. At the time she was the eighth known person to be diagnosed with the disorder. We spoke to Ondrasik, who is a pediatrician, along with CACNA1A Foundation Vice President Sunitha Malepati about the CACNA1A-related disorders, how it progresses, and what the CACNA1A Foundation is doing to advance research to speed the development of treatments and a cure.

Your Daily Chocolate
Inspirational Parents Making Progress In The Fight Against Ultra-Rare Diseases with Geri Landman

Your Daily Chocolate

Play Episode Listen Later May 1, 2023 21:41


Most of know about some rare diseases that effect a fairly small number of the population. ALS for example effects around 18,000 people in the United States. Today's guest Geri Landman, is a Pediatrician and mother of three. She discovered that her third child suffers from a genetic disorder called PGAP3. She is one of only 50 known cases in the world. Today Geri brings her inspiring story of the lead up to the diagnosis and then all of the time, energy, effort, and emotion since. She and her husband are now the Founders and Directors of Moonshots For Unicorns which funds research and find cures for PGAP3 and other ultra-rare disorders. Geri also discusses some of the mind-blowing genetic advancements that are happening right now in the fight to find cures. This is a beautiful and motivating episode. Look below to see how you can find out more and get involved. Find more about Moonshots For Unicorns Your Daily Chocolate is in the top 25% of most shared, and most followed podcasts worldwide, so let's boost it up even higher. Take 10 seconds today and share the show with some friends that you know will love it, and make 2023 an even brighter year for those you care about. Please consider supporting this podcast with a modest contribution here - just hit the "support" button to continue to hear good news from big name inspiring guests - Ad free! Be sure to subscribe to the newsletter at yourdailychocolate.com for extra content and all sorts of good stuff. If you like the show, please rate and review, or share it with anyone you think would like a little good news in their life. You can also subscribe to Your Daily Chocolate on Apple Podcasts, Spotify, Google Podcasts, or your preferred platform. --- Support this podcast: https://podcasters.spotify.com/pod/show/patty-deutsche/support

Forward Guidance
Jeff Snider: The Credit Crunch Is Here As Ultra Rare Bond Market Signal Flashes Red For First Time Since 2008

Forward Guidance

Play Episode Listen Later Apr 24, 2023 65:22


Ultra short-term Treasurys have rallied so much that the 1 month bill now yields over 150 basis points less than similar instruments at the Federal Reserve. Jeff Snider, chief strategist at Atlas Financial and host of Eurodollar University, joins Jack Farley to discuss. Today's show is sponsored by Public.com: Get a 5.1% yield when you open a government-backed Treasury Account by going to https://public.com/forwardguidance __ Follow Jeff Snider https://twitter.com/JeffSnider_AIP Follow Jack Farley on Twitter https://twitter.com/JackFarley96 Follow Forward Guidance on Twitter https://twitter.com/ForwardGuidance Follow Blockworks on Twitter https://twitter.com/Blockworks_ __ Timestamps: (00:00) Intro (04:30) Money Is Getting Herded Into Highest Tier Of Collateral (07:54) Liquidity Preference Is Extreme (15:21) Treasurys Role In Banks' Asset & Liability Management (18:47) Credit Crunch (22:35) Public Ad (23:39) Are The Bank Runs Over? (30:42) Is The "Mild Recession" Forecast Plausible? (33:57) How Many More Rate Hikes Does The Fed Have In The Chamber? (35:41) The Fed's Efforts To Help The Banking System (BTFP, Discount Window, etc.) (39:40) Were Rate Hikes To Blame For The Collapse of Silicon Valley Bank (SVB)? (43:08) Impact of Quantitative Easing (QE) On Bank Deposit Levels (44:50) Was There "Money Printing" In 2020? (47:42) Did The Banks Take Too Much Interest Rate Risk in 2020 & 2021? (49:48) Defining "Deflationary Money" (55:12) LIBOR Futures Will Be Phased Out, Right? (56:37) Counterargument: Debt Ceiling Is The Reason Short-Term Treasury Bills Are Trading At Such A Premium (01:02:32) Summary Of Jeff's Views On Credit Crunch & Deflationary Money

RARECast
Creating a Sustainable Reimbursement Model for Ultra-Rare Therapies

RARECast

Play Episode Listen Later Apr 13, 2023 34:49


While there is growing ability to pursue the development of therapies for ultra-rare diseases, they remain challenging because of economics. One major barrier is the difficulty in getting reimbursement for therapies in the absence of well-powered clinical trials that recruit enough participants to satisfy payors demands for adequate proof of the value of a therapy. The Muscular Dystrophy Association, earlier this year, awarded the nonprofit biotechnology Cure Rare Disease a grant to research novel reimbursement strategies for ultra-rare disease therapies. We spoke to Rich Horgan, founder and president of Cure Rare Disease, about the evolution of his organization, its growing pipeline of therapies, and why developing a viable reimbursement model is essential to creating sustainable development of ultra-rare disease therapies.

Asmr Assistant
ASMR For Tingle Immunity

Asmr Assistant

Play Episode Listen Later Mar 7, 2023 18:40


RARECast
Empowering Ultra-Rare Disease Patients to Pursue the Discovery of Treatments

RARECast

Play Episode Listen Later Feb 10, 2023 33:28


Casey McPherson hasn't taken a typical path to becoming a bioentrepreneur. The singer-songwriter is the frontman for Alpha Rev, an up-and-coming indie band from Austin, Texas. Rather than focus on his music career, McPherson instead put his energy into finding a treatment for his daughter Rose, who was diagnosed with an ultra-rare, neurodevelopmental condition. The issues he faced in working with academic researchers led him to co-found Everlum Bio, a rare disease lab designed to provide a range of services for ultra-rare disease patients seeking to discover treatments for their conditions. We spoke to McPherson, chief innovation officer of Everlum, about what led him to create the company, its “rare-disease-lab-as-a-service model, and how he is working to change the discovery landscape for ultra-rare disease therapies.

RARECast
An Ultra-Rare Disease Drug Developer Tries to Navigate Regulatory Uncertainty

RARECast

Play Episode Listen Later Jan 26, 2023 25:49


When Stealth Biotherapeutics sought approval for its experimental therapy to treat the ultra-rare and life-threatening condition Barth syndrome, the U.S. Food and Drug Administration said it wouldn't review its application because the clinical studies the company performed involved too few patients to make a determination about the efficacy of the drug. The notice was part of a history of interactions between Stealth and the FDA that that the company said was characterized by inconsistent guidance as it moved from division to division within the agency. We spoke to Reenie McCarthy, CEO of Stealth, about the challenges the company has faced in seeking FDA approval for its Barth syndrome therapy, the lack of consistency it found within the agency, and why this could have a chilling effect on the development of ultra-rare disease therapies if left unaddressed.

Bwrosas Discussions
Recent Found "Ultra-Rare" Rescue Rangers Christmas Clip Found. Yet Disney Didn't a Christmas Episode

Bwrosas Discussions

Play Episode Listen Later Dec 27, 2022 8:08


This shows the what could've been, and yet never happened. But they did so the follow year for TaleSpin, but they couldn't do say for the Rescue Rangers? Come on Disney! Comments are Welcomed Like The Podcast VENMO: @Brian-Walmer-2 Cash App: $bwrosas98 #chipndalerescuerangers #Christmas #thedisneyafternoon #UltraRare --- Support this podcast: https://anchor.fm/bwrosas/support

PS THIS IS AWESOME!
God of War Ragnarok (Spoiler Free Early Impressions)

PS THIS IS AWESOME!

Play Episode Listen Later Nov 14, 2022 97:09


Today we discuss our first spoiler-free impressions on God of War Ragnarok, we discuss our top Ultra Rare trophies, The Perceiver, Project Cars & Dirt get canceled, N7 Day happened and how we need to get our ME2 episode out. Plus so much more!  For first time visitors: We appreciate you stopping by. For returning visitors; Welcome back! We are a dedicated Weekly PlayStation Podcast called: PS This is Awesome! A PlayStation Podcast. You can stream our Podcast on your preferred podcasting service or just tune in and watch the show on YouTube!  Please, if you enjoyed the content or even if you didn't quite enjoy this one, we encourage you to come back. We try to offer something for everybody. Please share with your friends and help us spread the show as we try to build a bigger community here!  As always you can support our show at our Patreon Page. Thanks for listening. http://www.patreon.com/psthisisawesome 0:00 - INTRO13:07 - LISTENER FEEDBACK15:10 - PS PLUS GAME OF THE MONTH16:14 - OUR ULTRA RARE TROPHIES36:05 - GOD OF WAR RAGNAROK (GAMES WE'RE PLAYING)49:32 - GAMES GETTING SPOILED ON PLAYSTATION CONSOLES54:20 - CONTROL 2 IS CONFIRMED58:10 - DRAGON AGE: ABSOLUTION1:00:55 - THE PERCEIVER1:05:04 - GOD OF WAR COLLECTOR'S EDITION DOWNLOAD CODE ISSUES1:15:45 - KFC ADVERTISING HIT THE MARK1:18:05 - TLOU GETTING A BOARD GAME1:25:50 - PROJECT CARS & DIRT ARE CANCELED1:27:00 - N7 MASS EFFECT DAY1:30:30 - CLOSING Support PS This is Awesome! Hosted on Acast. See acast.com/privacy for more information.

Ultra Rare Life
Ep. 100 - Celebrating The TOP Episodes Of Ultra Rare Life 

Ultra Rare Life

Play Episode Listen Later Oct 21, 2022 24:02


Ep. 100 - Celebrating The TOP Episodes Of Ultra Rare Life   In this episode of Ultra Rare Life I cover the past 100 episodes and some of your favorites!    I go back and cover why I named my podcast Ultra Rare Life, some of your favorite guest speakers and their stories, hearing from doctors,  business, marriage, mental wellness, and faith.  Step on back with me on the last 100 episodes! You can find me on social media at: Email: ourgutinstinct@gmail.com  www.instagram.com/sarahhein_ultrararelife/ https://www.facebook.com/theultrararelife/ Visit my website: https://www.ultrararelife.com/   Be sure to subscribe and catch my weekly episodes released on Monday's

The New School Project
#55 NASA Probe Will Fly Over Europa, Ultra Rare Spirit Bear Spotted in Upper Peninsula, and Protesters Killed in Iran

The New School Project

Play Episode Listen Later Sep 28, 2022 59:22


On today's episode of The New School Project the guys discuss a NASA space probe that will soon be doing a flyby over Jupiter's moon Europa, a “one in a million” black bear with a genetic mutation, and 140+ protesters killed in Iran. 

Drive Podcast
0 to $25 million in 3 seconds - a cringeworthy crash for an ultra-rare supercar

Drive Podcast

Play Episode Listen Later Sep 13, 2022 27:48


Proof that American cars have the coolest namesSome very impressive sales figures coming through from TeslaHigh performance cars are easier to access than ever before - should our licensing reflect that?The new Ford Ranger Raptor is almost here, will it be the most fun ute ever?And which car brand is fit to carry on the Royal lineage? See omnystudio.com/listener for privacy information.

Market Trends This Month
75 - "How NFTs Can Work In The REAL World" - with Steve Claydon

Market Trends This Month

Play Episode Listen Later Aug 30, 2022 26:11


BONUS Mini Episode! In this episode, Steve Claydon and Darcy J Smyth explore LIVE how NFTs can actually work in celebration of the launch of the 'What's The Deal?' Trading Card Game. A parody-rich, hilarious, fun and strategic card game you can play at work or home. The world has gone mad and influence is the new global currency. Who will reign supreme? Each pre-order of the game (1st Edition Base Box including 33x prospects, 25x agenda cards and 214x card playing deck) includes 5x 'on reveal' collectable NFTs. There are 999x base set boxes available globally and 999x 1st Edition PCA Graded Prospect NFTs. Included in the NFT collection are 40x ultra rare cards with major real-world perks:

Trophy Whores » Proven Gamer
Trophy Whores 530 – Infamous Creed for Ultra Rare Pings

Trophy Whores » Proven Gamer

Play Episode Listen Later Jul 6, 2022 104:50


Whoa, Shuhei!  We've got a lot to talk about.  Stack it up!  Join Tricky, Alex,...

Coffee with the Chicken Ladies
Episode 75 Hedemora Chicken / Failure to Thrive in Chicks / Ultra Rare Breeds with Kate Whyld of Hens on Oxney

Coffee with the Chicken Ladies

Play Episode Listen Later May 3, 2022 57:10 Very Popular


In this week's episode we spotlight the fairy tale Hedemora chicken, discuss failure to thrive in chicks, and chat with UK breeder Kate Whyld about keeping ultra rare breed chickens and working on an MA in Poultry Science from Edinburgh University. We also share our recipe for fresh and delicious strawberry mousse, and provide some retail therapy from Chewy!Our sponsor, Grubbly Farms, is offering our listeners 25% off your purchase for first time buyers! That's a fantastic value! This offer does not apply to subscriptions and cannot be used with any other discounts. Click here for our affiliate link and use our code COFFEELADIES25 to get your discount.Chicken Luv Box -  use CWTCL50 for 50% off your first box!https://www.chickenluv.com/Hedemora Chicken - Greenfire Farmhttps://greenfirefarms.com/hedemora.htmlHedemora Chicken - Sugar Feather Farmhttps://www.sugar-feather.com/product/hedemora-chicken/Strong Animals Chicken Essentialshttps://www.getstronganimals.com/Kate Whyld - Hens on Oxneyhttps://hensonoxney.co.uk/Hens on Oxney Instagramhttps://www.instagram.com/hensonoxney/?hl=enHens on Oxney Facebookhttps://www.facebook.com/hensonoxney/Poly Vi Solhttps://amzn.to/3LCGoOfAs Amazon affiliates, we receive a small commission from purchases of the item above.Strawberry Moussehttps://coffeewiththechickenladies.com/farm-fresh-egg-recipes/strawberry-mousse/Chewyhttps://www.chewy.com/s?query=chickens&nav-submit-button=CWTCL Websitehttps://coffeewiththechickenladies.com/CWTCL Etsy Shophttps://www.etsy.com/shop/CoffeeWChickenLadiesCWTCL Amazon Recommendationshttps://www.amazon.com/shop/coffeewiththechickenladiesSupport the show (https://www.patreon.com/coffeewiththechickenladies)

The Threshing Floor
Episode 27: Covenant Games

The Threshing Floor

Play Episode Listen Later Apr 19, 2022 105:41


In this week's episode, we are joined by my good friend John Earley to discuss some exciting news for him personally that will also benefit the podcast. But before we get there, we've got a ton of spoilers to review that came out over the Easter weekend. I'm talking TWELVE new full spoilers in addition to the full phase 2 setlist for GoC dropping - man that was an awesome idea to drop the list on Easter! Did we identify the first Ultra Rare? Did we identify all three? Plus, it's week one of the GIVEAWAY, so we've got your first trivia question and all the details on how to enter the drawing. As always, thanks for listening!   The Threshing Floor is proudly sponsored by Covenant Games. 

Energy in Action by MitoAction
Removing Barriers in Ultra-Rare

Energy in Action by MitoAction

Play Episode Listen Later Feb 2, 2022 25:00


ENERGY IN ACTION - EPISODE 044 Removing Barriers in Ultra-Rare Joining me in this episode are Desiree Magee & Ashley Rowland of CureARS, a non-profit organization dedicated to spreading awareness, connecting & providing support to affected families and funding research for the ultra-rare Mitochondrial ARS genes. EPISODE HIGHLIGHTS Desiree, can you introduce yourself and tell us how you're connected to the mitochondrial disease community? My 6 year old daughter Daphne was diagnosed at a year old after a six month diagnosis journey. My daughter's disease has two names- Leukoencephalopathy with thalamus and brainstem involvement and high lactate (LTBL) and Combined oxidative phosphorylation deficiency 12 (COXPD12). Daphne is primarily affected by speech delay, hypotonia, and global delays in learning and performing everyday tasks. Ashley, can you introduce yourself and tell us how you're connected to the mitochondrial disease community? My daughter Aubrie is three and a half years old and she has a disease called leukoencephalopathy with ovarian failure (LKENP) from the AARS2 gene. She was diagnosed at 2 years old. Can you share about Cure ARS? It started as discussions around how we could raise money for research and how we could help our kids and other families. In order to fund a research project, we started the nonprofit. Our mission is to spread awareness, connect and provide support to affected families and fund research for the ultra-rare mitochondrial ARS genes in order to pave the way to suitable treatment options and ultimately a cure. Can you share details about the symposium coming up in February? The Mitochondrial ARS (Mt-aaRS) Genes Annual Scientific Symposium is a one day event on February 10, 2022 and will feature world-renowned doctors and researchers. The goal of the symposium is to bring worldwide collaboration between researchers and clinicians to build a stronger working relationship and put patient faces to the data and the impact they're making. Does Cure ARS have a patient registry? We have a registry through CoRDS at Sanford Health, which will be launching soon. RESOURCES & LINKS MENTIONED Daphne's Lamp https://www.daphneslamp.com/ Cure ARS https://www.curears.org/ Cure ARS on Facebook https://www.facebook.com/curears Mitochondrial ARS (Mt-aaRS) Genes Annual Scientific Symposium https://www.curears.org/symposium ARS Gene Community https://www.facebook.com/groups/ars.gene.community

Two Disabled Dudes Podcast
166 - Ultra Rare Drugs at No Cost to the Patient - Stan Crooke

Two Disabled Dudes Podcast

Play Episode Listen Later Nov 15, 2021 39:50


Stan Crooke has been in the drug development game for a long time.  He is the founder of Ionis Pharmaceuticals and now he has pioneered a method to develop and provide medicines to Ultra Rare communities of 30 patients or less.  This idea blew our minds and I think you will enjoy hearing from Stan.

Crazy About Crypto Show
56: 7 of the 9 ultra rare Alien Cryptopunks were minted by today's OG NFT Collector Straybits

Crazy About Crypto Show

Play Episode Listen Later Nov 12, 2021 55:21


Today's guest is about as OG as it gets when it comes to NFT collectors. He was one of the earliest market makers of high end punks back in 2017, with 8 cryptopunk Apes and 7 out of the 9 aliens making their way through his wallet. Sotheby's recently paid tribute to legendary colletors, and he was rightfully chosen to be one of the collectors featured. He was trading NFTs before even crypto natives like myself had any idea what an NFT was. It is my insane honor to share the stage today with a collector that I look up to. The one, and only, Straybits!

First Opinion Podcast
Episode 29: A father on the legacy of his son's ultra-rare disease

First Opinion Podcast

Play Episode Listen Later Aug 25, 2021 33:12


Bertrand Might was born with a rare disease that had never before been diagnosed, an odyssey that took four grueling years. He was 12 years old when he died last year — almost a decade older than physicians predicted he would live. This week on the First Opinion Podcast, Bertrand's father, computer scientist Matthew Might, talks about how he used his coding skills to try to extend his son's life, and how daring research projects could save lives across the country and around the world if the Biden administration's proposed Advanced Research Projects Agency for Health (ARPA-H) comes to life.

Spectrum Autism Research
Ultra-rare variants point to new autism candidate genes

Spectrum Autism Research

Play Episode Listen Later Jul 26, 2021 4:55


A large, whole-genome sequencing study of families yields insights into ultra-rare genetic variants that contribute to autism.

The Upland Property Xperts (UPX) Podcast
The Land & Chi-Town are coming to Upland with a Hyperloop

The Upland Property Xperts (UPX) Podcast

Play Episode Listen Later May 14, 2021 56:14


2Stupid2Win and guest co-host Lefthouse cover the exciting news of the Hyperloop and the upcoming release of Cleveland & Chicago. Earthshaker joins us and talks about his inspiration in starting The Upland Daily show. An Ultra Rare property in Old Town Gems was given away to one of the lucky live listeners. Old Town Gems Article: https://uplandme.medium.com/old-town-gems-event-5101ece5117a The Upland Daily Show: https://www.youtube.com/channel/UCKXhcGbQ0pnU9cvqtFHsLuw Come explore the Upland meta-verse where you play, earn, and connect! You will receive a 50% bonus on your first purchase using this link https://discover.upland.me/UPX-Podcast

RARECast
How an Ultra-Rare Disease Patient Organization Drove Research to a Treatment

RARECast

Play Episode Listen Later Dec 10, 2020 26:00


In November, the U.S Food and Drug Administration approved Eiger Biopharmaceutical's Zokinvy, the first therapy to treat the ultra-rare disorder progeria, a genetic disease that causes premature aging. The approval of Zokinvy, which began life as a potential cancer therapy known as lonafarnib, shows the essential role patient organization can play in driving research and bringing together collaborators to advance the understanding of a condition and develop treatments. We spoke to Leslie Gordon, co-founder and medical director of the Progeria Research Foundation, about the role the organization has played in creating an understanding of progeria, identifying and advancing a therapy for the condition, and how a windfall from the sale of a priority review voucher from the approval of the therapy will help advance future research.

RARECast
Making Gene Therapies Accessible to Patient with Ultra-Rare Conditions

RARECast

Play Episode Listen Later Nov 26, 2020 31:29


While gene therapies provide great promise for people with rare, genetic diseases, the pursuit of these one-time treatments may not seem economically viable to commercial developers. In the case of ultra-rare conditions, the patient populations may be so small that it may not be possible for companies to recoup their investments, let alone make a profit. The nonprofit Columbus Children's Foundation is providing funding and scientific resources to accelerate access to gene therapies for children with ultra-rare genetic disorders. We spoke to Jude Samulski, a gene therapy innovator and chairman and chief scientific officer of the Columbus Children's Foundation, about the foundation operates, the range of capabilities it is able to bring together, and the potential to scale what it does to reach more patients in need of treatments.

The Part-Time Podcast
34 - Ultra Rare Cheeto Shaped Like Batman

The Part-Time Podcast

Play Episode Listen Later Jul 9, 2020 68:44


This week Addison spills the beans, 4 of them to be exact, on how to improperly walk on a sidewalk (hint: you'll never guess what it is!). So you may need to listen to this episode 4 times while tapping something 4 times and then turning your doorknob 6 times because it's round and doesn't have any corners. Isn't anxiety fun? Also, we could use your help getting a dead kid a shiny new Sainthood. Let's get it done y'all! You might also notice some shiny new cover art! We worked really hard on that and we're really proud how that turned out! Other topics of discussion: A weird way to walk (intro) Kayne 2020 (2:11) Kim K as the first lady (9:25) RayJ's Sex Jeep (11:00) Black market for cheetos on eBay (14:18) The patron saint of the internet (23:22) Helping Carlo become a saint (39:20) Bob Dylan's crazy ass song (41:04) Top Tooth Chew (57:36) Chris gets tricked by a soundboard (1:04:00) You can submit your own thought experiments, questions you want answered, or topics for  discussion by: Tweeting at us: @part_time_pod Email: pt.podcasters@gmail.com Voicemail: Anchor voice message (we'd feature it on the show with your permission) It would also really help us out if you could take the time to review the show on Apple Podcasts if you're enjoying it. Thanks for listening and please follow us on Instagram for art based on things we've talked about on the show --- Send in a voice message: https://anchor.fm/part-time-pod/message