Podcasts about Fabry

Witam Państwa, nazywam się Jarosław Drożdż, pracuję w Centralnym Szpitalu Klinicznym Uniwersytetu Medycznego w Łodzi, skąd nagrywam podcast Kardio Know-How. W tym odcinku omawiam najnowszą definicję niewydolności serca. Nowa definicja niewydolności serca (AHA/ACC/ESC/WHF 2026) została opublikowana 29 czerwca 2026 i aktualizuje definicję z 2021 roku, uwzględniając postęp diagnostyki, biomarkerów i nowych terapii, bez zmiany podstawowego rozpoznania niewydolności serca jako zespołu objawów wynikających z nieprawidłowej budowy lub funkcji serca, potwierdzonych podwyższonymi peptydami natriuretycznymi lub obiektywnymi cechami zastoju (https://www.ahajournals.org/doi/10.1161/CIR.0000000000001455). Najbardziej widoczną zmianą jest odejście od sztywnych progów frakcji wyrzutowej – zamiast HFrEF, HFmrEF i HFpEF autorzy proponują bardziej elastyczny podział na niewydolność serca z obniżoną, zachowaną oraz poprawioną frakcją wyrzutową, podkreślając, że pojedyncza wartość EF nie powinna decydować o fenotypie chorego. Jednocześnie zwracają uwagę na paradoks współczesnej kardiologii – większość badań klinicznych i zaleceń terapeutycznych nadal opiera się właśnie na wartościach LVEF, dlatego praktyka nie jest jeszcze gotowa na całkowite odejście od dotychczasowych progów. Po raz pierwszy wprowadzono również kompleksową klasyfikację etiologiczną niewydolności serca obejmującą m.in. przyczyny niedokrwienne, nadciśnieniowe, zastawkowe, zapalne, genetyczne, toksyczne, metaboliczne oraz choroby rzadkie, takie jak amyloidoza czy choroba Fabry'ego, co ma znaczenie ze względu na rosnącą liczbę terapii przyczynowych. Dokument mocno akcentuje także znaczenie trajektorii choroby – poprawa frakcji wyrzutowej nie oznacza wyleczenia, a leczenie o udowodnionej skuteczności powinno być kontynuowane mimo poprawy funkcji serca. Znacznie większy nacisk położono na wykrywanie stadium pre-HF, wykorzystując nie tylko NT-proBNP, ale również troponiny, wskaźnik albumina/kreatynina (ACR), zaawansowane obrazowanie oraz algorytmy sztucznej inteligencji analizujące zapis EKG. Profilaktyka staje się integralną częścią opieki nad pacjentem – autorzy wskazują na rolę inhibitorów SGLT2, agonistów receptora GLP-1 oraz finerenonu w ograniczaniu ryzyka rozwoju niewydolności serca u odpowiednio dobranych chorych. Dokument podkreśla także rosnące znaczenie sztucznej inteligencji w identyfikacji pacjentów z nierozpoznaną niewydolnością serca oraz zwraca uwagę na nierówności w dostępie do nowoczesnej opieki kardiologicznej. Największym wyzwaniem pozostaje jednak pogodzenie nowoczesnego biologicznego podejścia do niewydolności serca z obowiązującymi dowodami naukowymi, które nadal opierają kwalifikację do farmakoterapii, ICD czy CRT głównie na wartościach frakcji wyrzutowej. Szczegółowy TRANSKRYPT do odcinka.Podcast jest przeznaczony wyłącznie dla osób z profesjonalnym wykształceniem medycznym.

Stroke in children and younger adults differs significantly from adult stroke, with varied presentations and a broader range of underlying causes such as congenital heart disease and arteriopathies. This episode highlights key diagnostic considerations and evolving approaches to treatment in these younger populations. In this episode, Aaron L. Berkowitz, MD, PhD, FAAN, speaks with Thalia S. Field, MD, FRCPC, MHSc, coauthor of the article "Stroke in Children and Younger Adults" in the Continuum® June 2026 Cerebrovascular Disease issue. Dr. Berkowitz is a Continuum® Audio interviewer and a professor of neurology in the Department of Neurology at the University of California, San Francisco, in San Francisco, California. Dr. Field is a professor at the University of British Columbia and the Sauder Family Heart and Stroke Professor of Stroke Research, and a stroke neurologist at the Vancouver Stroke Program, Vancouver Coastal Health in Vancouver, British Columbia, Canada. Additional Resources Read the article: Stroke in Children and Younger Adults Subscribe to Continuum®: shop.lww.com/Continuum Earn CME (available only to AAN members): continpub.com/AudioCME Continuum® Aloud (verbatim audio-book style recordings of articles available only to Continuum® subscribers): continpub.com/Aloud More about the American Academy of Neurology: aan.com Social Media facebook.com/continuumcme @ContinuumAAN Host: @AaronLBerkowitz Full episode transcript available here Dr Berkowitz: Most neurologists are used to evaluating and treating adults with stroke since it's one of the most common neurologic conditions. But stroke can also occur in children, in infants, and even in utero. Today, I have the privilege of interviewing Dr. Thalia Field to talk about pediatric stroke.  Dr Jones: This is Dr. Lyell Jones, Editor-in-Chief of Continuum. Thank you for listening to Continuum Audio. Be sure to visit the links in the episode notes for information about earning CME, subscribing to the journal, and exclusive access to interviews not featured on the podcast.  Dr Berkowitz: This is Dr. Aaron Berkowitz, and today I'm interviewing Dr. Thalia Field about her article on stroke in children and younger adults. This article appears in the June 2026 Continuum issue on cerebrovascular disease. Welcome to the podcast, Dr. Field, and could you please introduce yourself to our audience?  Dr Field: Well, thanks so much. It's a pleasure to, uh, be speaking to you. I'm a stroke neurologist, and I treat adults generally. My wonderful colleague, Thivya Selvanathan, who's a neonatal neurologist, co-wrote the chapter with me. We do, unfortunately, have to treat some children with stroke collaboratively and I do advise on those cases. My practice is about one-quarter clinical, so I treat patients with acute stroke, look after them on the wards, see patients in stroke prevention clinic, and the rest of my time is mainly research and some administrative work and teaching. I run the clinical trials program for the Vancouver Stroke Program, and I do research of my own, mainly focused on stroke in younger adults. We previously did a trial and registry on cerebral venous thrombosis, and more recently, I've been running a national study looking at brain health in adults and children with congenital heart disease.  Dr Berkowitz: Fantastic. Wow, that is a lot that you do, and we'll look forward to the results of some of those studies. So, when adults suffer a stroke, they typically present with sudden onset focal neurologic deficits, very common scenario we're consulted on.  And one thing you and your colleague talk about in the article is that strokes can present differently in infants and in young children. Can you talk a little bit about the differing clinical presentations of stroke in the youngest young as compared to our usual experience treating the older adults?  Dr Field: Sure. So, you know, speaking about this as someone who doesn't see the children directly but has had the opportunity to discuss these patients with my colleagues and, like we all do, learn about it during our training, I think one of the distinctions, especially with neonates, is that it's generally not a presentation with focal neurologic deficits. Often these babies will have seizures or encephalopathy as their main presentation, and sometimes we're only finding out after the fact if they're presenting with developmental delay or early preference for handedness and hypotonia, things like that. So, in very young children, that's a distinction. And in older children, there can be sudden onset deficits and, and unfortunately, sometimes these are mistaken for other conditions that are more common in children, like seizures. But sometimes you can have a more indolent course, say, with something like a focal cerebral arteriopathy or something like that. So, it depends on the scenario, but the big difference primarily is in neonates, as far as I understand.  Dr Berkowitz: Perfect. That's very helpful. So as an adult neurologist, when I think about causes of stroke or teach sort of the categories of causes of stroke to our residents and students, when we think about the evaluation of stroke, I divide them broadly into causes related to the heart, causes related to the blood vessels, and causes related to the blood with, in the adult world, the most common things, of course, being atrial fibrillation for the heart, atherosclerosis for the blood vessels, and then risk factors for atherosclerosis in the blood, diabetes, hyperlipidemia, very rarely picking up a hypercoagulable disorder in the blood column. And reading your article, it seems that, correct me if I'm wrong, stroke in young adults, stroke in the pediatric population can basically be organized into those same broad categories, heart, blood vessels, and blood, just that there's many more conditions on the differential diagnosis that you would consider in young adults to begin with and then children and then neonates as we get into the younger and younger population. So, I'd like to talk about each of these sort of buckets of etiology in turn and ask you about some of the causes we would consider in young adults and children in each of these, and then as they come up, probably ask you more questions about how frequently we find these sorts of things, how frequently they're the cause of stroke treatment, et cetera. So, let's start with the heart. As I said, in adults, we're mostly looking for rhythm disorders, right, atrial fibrillation. Sometimes we'll pick up a patent foramen ovale or PFO or other structural abnormalities, but mostly we're thinking about atrial fibrillation. But reading your paper, I was struck by the huge variety of conditions that you might be looking for in the heart in children or infants with stroke. So, can you tell us a little more about cardiac etiologies of stroke in the young?  Dr Field: Yeah. So, I'd say unlike in older adults, where it tends more often to be a rhythm disorder, in children and adults who are younger, it's primarily a structural cause, and congenital heart disease being the most common. And it changes a little bit from younger adults shifting downwards in age to younger children in terms of the fact that often if we're seeing an adult with stroke related to congenital heart disease, it can be a paradoxical embolism from a previously undiagnosed PFO. Not in all cases, but fortunately this is improving over time. You know, generally people with diagnoses of more severe congenital heart disease are followed up from childhood and people are aware of the diagnosis, and hopefully they're being managed and watched for things like premature arrhythmias or depressed heart function or other things that can develop and require their own distinct antithrombotic management, for example. In young children, however, more severe causes of congenital heart disease tend to more frequently be associated with stroke. And in many cases, those strokes can be early on in life or associated, say, with perioperative complications or other iatrogenic-related causes in, in that way. Again, congenital heart disease can be associated with stroke at, at any point in the life course. But as adult neurologists, most frequently we're seeing very simple lesions like PFO with large shunts, and in children, it tends to be the more complex causes of congenital heart disease.  Dr Berkowitz: Got it. So, let's move on to the blood vessels. Again, in adults, we're usually thinking about atherosclerotic disease, be that of the cervical arteries or of the intracranial arteries. But in your paper, a lot of discussion about the various vasculopathies, arteriopathies that can be cause of stroke in younger adults and in children. Could you talk a little bit more about some of the vasculopathies and vascular conditions that are causes of stroke in the younger population?  Dr Field: Sure. Before I do that, I will say that especially in older younger adults, particularly over the age of thirty-five, and you know, kind of makes me shudder that that's an older younger adult. But, um, in, in any case, certainly conventional vascular risk factors are more common in this population with stroke, especially in those who don't have PFO-associated stroke. Like conventional atherosclerosis, you know, certainly is a cause of stroke in younger adults. But that being said, certainly other vascular causes and vasculopathy in particular is a much more common cause of stroke in younger adults and, and children than it is in older adults. In particular, dissection is an extremely common cause of stroke in younger adults. Generally cervical artery dissection from non-inflammatory vasculopathy, usually on, sometimes on the FMD fibromuscular dysplasia spectrum and, and sometimes, you know, provoked by minor trauma or something post-infectious that may make the vessels a little bit more susceptible. And in younger children, this inflammatory focal cerebral arteriopathy is a distinct cause that is a common cause of stroke in, in young children. There are other causes that can affect the blood vessels, you know, rarer things like vasculitis and vasculopathies that can develop in the context, say, of sickle cell anemia. But in general, as a bucket, vessels are still very important, but the pathology tends to shift.  Dr Berkowitz: Got it. And you, um, alluded to a point that I wanted to ask you about. You mentioned the sort of, there's stroke in the young, and then where do you draw the line at young? Less than sixty, less than thirty-five, and then we've also talked about strokes as young as before the age of birth. Yeah, I'm remembering, is it the Helsinki study, one of the early large series of stroke in younger individuals? I think that, was it eighteen to forty-nine in that or fifty-nine? I don't remember the exact age, but being struck reading that paper as a resident and thinking about the workup for exotic causes we do, right, and when a young patient has a stroke. And correct me if I'm wrong, the most common etiologies of stroke in that series, and I'm curious the other large series yourself have been involved with, have still been vascular risk factors and arrhythmias and things that we, even common, quote unquote, common things in the young, such as dissection or hypercoagulable states. Uh, the things that we sort of tend to think about first are actually less common. But acknowledging that that paper has folks up to the late forties when the vascular risk factors may be, um, unfortunately kicking in earlier, uh, and earlier due to dietary and lifestyle factors. So is that true, or do you have sort of an age cutoff when it's, we say stroke in the young, people sort of think, "Oh, they'd work someone up differently if they're less than sixty, and they have no vascular risk factors or few vascular risk factors." When do we start getting into the kind of younger population where atherosclerosis and cardiac arrhythmias are not number one and two?  Dr Field: I'd say first of all, you and I must have trained around the same time because I was also in my training, really struck by the results of the Helsinki study going, "Wow, I, I really didn't know how much of a role these conventional vascular risk factors still play." And I think we're seeing that information reiterated, unfortunately, like even with higher prevalences and more attributable risk in some of the newer series. There are newer European series looking at stroke in younger adults, and more recently, there's been one that we mentioned in the article from the Florida Stroke Registry. And it's true that generally the burden is in the older younger adults. But what I would say overall in terms of kind of how things guide the workup, you need to look at the patient and consider things. I mean, obviously you don't want to miss things that can be treated differently and identified by tests easily. You know, things like ruling out syphilis or antiphospholipid antibody disease in, in younger patients. You really want to make sure that that's not something that, that you'd miss because, you know, obviously your treatment is going to change. However, certainly we start with the basics for stroke workup in any patient that's coming in. At my center, CT angiography. Some centers it may be MR angiography and echocardiography. We take a careful history. We look at the blood work. We look at the vascular risk factor burden. We find out if there's kind of any worrisome personal history, family history, look at their general health context. I think that really helps to guide how far we go in a particular workup, and it also helps to direct the other investigations and types of follow-up we need to do. For example, if a patient has a fairly suspicious story for dissection, let's say they're getting over a cold, and they went to the gym, and, you know, there was a sudden movement that they did that really produced headache and neck pain, and there's an obvious cervical artery dissection. I'm not going to go too far down testing them for rare infections and doing advanced cardiac imaging unless something shows up on their initial echo, for example. But I will make an effort to do more detailed vascular imaging of the rest of their body, find out careful family history. If there's additional manifestations of a non-inflammatory vasculopathy elsewhere, say consider sending them to medical genetics, or obviously, if this is, you know, a second event, your flags raise even more. So, it really depends on the patient. If I find out that there's, you know, a family history of premature cardiac disease and things like that, you know, obviously we're gonna be keeping a close eye on their cholesterol, making sure that we're not identifying, for example, familial hypercholesterolemia, which is, you know, something that comes up not infrequently where we'll see an LDL in an untreated patient of more than five. I apologize, you're gonna have to do the conversion to American units on that. But there are things we identify and, you know, again, you don't want to fall solely on heuristics and your preconceived notion of, of the patient. You do have to consider the results of the investigations that you do order. But I think you can certainly be mindful in terms of how you direct your workup and in turn, how you direct your follow-up.  Dr Berkowitz: That's great to hear your approach. Yeah, as you said, our approach always begins with the same, coming back to these three categories, right? Doing some type of structural imaging of the heart, rhythm monitoring for the heart, and then vascular imaging of the head and neck. And then I was going to ask you, and you sort of began to answer this question. Yeah. What's next and how far do you go? I think most people think the expanded stroke workup in the young is at a minimum, a TEE if there's been no signal thus far on the original workup. I just mentioned and you spoke about, and then probably hypercoagulable testing and only sending arterial side if there's no shunt and venous and arterial side if there's a shunt. Is that your second pass approach or did I miss anything, or are there other nuances there that are helpful to discuss?  Dr Field: No, I think that's generally in keeping with what I do. I think with TEE being very important. I mean, the first pass are arterial stuff. Really, it's antiphospholipid antibodies and, and making sure there's no cancer. Like you said, only if there's a shunt do I pursue other venous hypercoagulability testing. Again, you [chuckles] kind of reiterate, go through with the history, make sure there's kind of no red flags. And sometimes, obviously, you do your best reasonable job with the first pass workup, and you will find out when someone presents with a second event that it's something very unexpected. Maybe first manifestation, someone with no obvious history and very initially normal-looking imaging, say with, with CATASL or something like Fabry's disease or something where you would consider it if there was kind of a more classical picture. But it wouldn't be something you would do kind of on your first or even second pass workup in the absence of any sort of clinical suspicion, family history, or something along those lines.  Dr Berkowitz: I'm curious just as far as rough percentage. I feel like many of these patients we see it's a patient who's young and who's had a stroke, and the initial first pass has been unremarkable, and we do our TEE, and we do our hypercoagulable workup. Again, antiphospholipid antibodies only if it's-- there's no shunt. And if there's a shunt, adding on some of the venous hypercoagulability protein C, protein S, factor five, Leiden, et cetera. A lot of the times I feel like we don't find anything. What's your sort of general gestalt? Again, as a general neurologist who does a lot of inpatient neurology, I feel like when these cases come up, it's not that common that you say, "Oh, I actually diagnosed protein S deficiency." Or every once in a while, diagnose an antiphospholipid antibody, or you'll find a PFO on TEE. You didn't find on TT. I've maybe found one fibroelastoma in many years. How often do you find something? How often is it just as an adult a cryptogenic stroke in a young adult or child?  Dr Field: So much of what we see is PFO-related, dissection-related, conventional vascular risk factor-related. We do send referrals to medical genetics. Sometimes we'll do testing for rare things like Fabry's or consider other diagnoses. But I mean, those tend to be the exceptions. About one in four to one in five young adults with stroke end up with this cryptogenic label. I like to keep them on my radar for a few reasons. I think, one, it produces tremendous anxiety for them to not have a cause of stroke identified and just to kind of have a generic approach to secondary prevention. So, I think just to kind of keep an eye on them, manage their anxieties each year, make sure there's kind of no updates in, in terms of general secondary preventionAnd sometimes just things dawn on you later or there are new conditions, say things like, you know, DADA2, this, you know, adenosine deaminase deficiency. You know, there are new diagnoses that, that come on the radar. And sometimes treatments change. You know, for example, when I was starting my early career, the evidence hadn't yet been in place for PFO closure, and then all of a sudden, the paradigm completely changed. And you want to make sure that you can get in touch with those patients to reconsider your approach at the time. So I realize that not everybody has the luxury of extended follow-up with their patients, but I think often you can kind of encourage them or their healthcare team or just, you know, patient themselves to keep in touch periodically just to make sure that there haven't been any changes in treatment paradigms or just with your own awareness of particular, you know, diagnoses or, or just kind of readdressing the situation, uh, a year after and seeing if there's anything that may have occurred to you in the interim.  Dr Berkowitz: Perfect. Really illuminating to hear your approach to these challenging cases. And as you said here and then a couple of times, I think, in this interview is in many of these cases it's your first pass, maybe even your second pass, you haven't found anything. And the key is, unfortunately, as distressing as it may be for the patient as well as for us to not have an answer, to just keep following these patients. And sometimes you really can't sort it out until something else happens, either neurologically or systemically, where you say, "Oh, that's what this was." But there would've been no way to know it from the first presentation. So, we've talked a lot about the diagnosis of causes of stroke in younger adults and children. And in the last minute or two here, I just wanted to talk a little bit about treatment. You mentioned early on that you're involved in thrombectomy cases in children. What's the state of evidence or at least state of practice in terms of offering therapies like thrombolysis and thrombectomy in our patient population? I guess it would be under 18, right, who is not studied in the major trials. Do we have evidence and, or in the absence of evidence, what's sort of the, the expert guidance on treating young adults under 18 and children with some of these acute therapies?  Dr Field: So, trying to keep up with the literature on this. You know, certainly the evidence has been more established in a small trial and pediatric registries for use of tPA, tissue plasminogen activator, in children just because, you know, it's been around much longer. In terms of tenecteplase, which I, I really think signifies a, a practice shift in adult stroke because of its, you know, non-inferior efficacy and ease of use and potentially better rates of recanalization over time. In children, to my knowledge, that evidence base is, is limited to case series and anecdotal shifts in availability of drug and, and different practices. So, the evidence base is not particularly strong for tenecteplase in children who are identified within a reasonable amount of time who are still otherwise candidates for thrombolysis, you know, thrombolysis in children. Children who are a little bit older, I think, can't remember the exact age, but generally very young, like neonates, children who are under the age of two, I believe. I would want to double-check that thrombolysis is less commonly used and just because the safety has not really been that well-established. And for thrombectomy, it's now recommended to use thrombectomy in otherwise eligible children in the newest AHA guidelines. It gets a little bit more controversial in very young children. Under the age of six, there's less of an evidence base and, and often it will depend on people's level of comfort in terms of the size of the arteries. It's my understanding that once you get to about age six, the artery diameter is similar to that in fully grown people. But in younger children, I think just because of the catheters, there can be risk of, of injury. So, it's more of a case-by-case conversation with your interventionalist for younger children. And again, the evidence to intervene is not there for very, very young babies, for example.  Dr Berkowitz: That's very helpful to hear the current state of the evidence and the current state of practice, acknowledging, of course, there's not that much evidence, and these are relatively uncommon occurrences, fortunately, for children, but making it challenging for practitioners and practices may, um, vary based on different institutional protocols. So again, today I've been interviewing Dr. Thalia Field about her article on stroke in children and younger adults. This article appears in the June 2026 Continuum issue on cerebrovascular disease. Be sure to check out Continuum Audio episodes from this and other issues. And thank you to our listeners for joining us today.  Dr Monteith: This is Dr. Teshamae Monteith, Associate Editor of Continuum Audio. If you've enjoyed this episode, you'll love the journal, which is full of in-depth and clinically relevant information important for neurology practitioners. Use the link in the episode notes to learn more and subscribe. AAN members, you can get CME for listening to this interview by completing the evaluation at continpub.com/audioCME. Thank you for listening to Continuum Audio.

The one‑and‑done model has defined gene therapy for a generation. Chris Hopkins thinks it is time to move on. At ASGCT 2026, Abi Pinchbeck spoke with the Co‑founder and CEO of Glafabra Therapeutics on redoseable cell‑based gene therapy, a platform spanning Fabry, Pompe, and Gaucher diseases, and what durable, if not permanent, treatment could mean for patients. A podcast version of this discussion is also available.

La malaltia de Fabry o la s

durée : 00:04:45 - Récits d'enquête - par : Margaux Leridon - Dans une hilarante comédie documentaire, Clément Doumic et Antoine Fabry mènent l'enquête sur l'origine de leur fromage préféré, une mystérieuse tomme de chèvre du Larzac découverte sur le marché d'Arles. - invités : Antoine Fabry Président et fondateur du Tremplin et vice-président de la Fédération des organismes de formation pour les élus locaux (FNOFEL)

Send us Fan MailGuessing is easy. Verifying is better, and in hearing aid fittings it can be the difference between “good enough” and genuinely clear speech. We sit down with Madison Levine, BC-HIS and Dr. Dave Fabry to unpack what real ear measurement actually looks like in a busy clinic, starting with a simple question: when should you run REM, at the first fitting or later? We share a first-fit workflow that's built for speed: prep the room, connect devices ahead of time, set expectations the moment the patient sits down, and run verification before anything else steals the clock. Then we zoom out to the bigger “why” behind probe microphone measures, including how REM helps confirm audibility at the eardrum regardless of prescriptive targets, proprietary algorithms, or fitting software defaults. Dr. Fabry also lays out a practical verification protocol: multiple input levels, automated REM to match targets efficiently, and the often-missed safety-and-performance checks like MPO sweeps and LDL/UCL so comfort is protected without throwing away dynamic range. We end with the uncomfortable question: if the evidence is strong, why isn't real ear measurement universal, and what can clinicians do to remove the time, cost, and confusion barriers? If you care about hearing aid verification, audiology best practices, and better patient outcomes, hit play, then subscribe, share with a colleague, and leave a review. What's the biggest obstacle keeping REM consistent in your workflow?Connect with the Hearing Matters Podcast TeamEmail: hearingmatterspodcast@gmail.com Instagram: @hearing_matters_podcast Facebook: Hearing Matters Podcast

A group representing people with a rare genetic disorder say they've been waiting almost two decades for some critical drugs to be funded. Fabry disease is caused by a missing enzyme, and can lead to life threatening complications including organ failure. There is no cure but there are treatments available overseas to slow degeneration from the disease. Deborah Klyer from Fabry New Zealand spoke to Lisa Owen.

It's Episode 17 of The Nephron Segment and it's time for NephMadness! Join us as we chat with NephMadness writers Dr. Steven Clapp & Dr. Alyssa Steitz, and Director of Rare Genetic Kidney Diseases at the University of Alabama Birmingham, Dr. Eric Wallace. We discuss the fierce NephMadness 2026 Genetics Region competitors: Polycystic Kidney Disease (PKD) Masqueraders & Fabry Treatment. How can we spot the PKD wanna-bes? What's new in the treatment of Fabry disease? And how do you say Fabry? Fab-ray? Fab-ree? Listen to the end to hear everyone's picks for NephMadness 2026. Before you make your picks, check out the Genetics Region scouting report here. Or flip a coin or pick your favorite region image. Submit your NephMadness brackets at nephmadness.com (just like March Madness!) by 3/31. Maximize your changes by submitting 2 brackets per email address.Nephrons: Matthew Sparks, Samira FaroukGuests: Steven Clapp, Alyssa Steitz, Eric Wallace

Last Thursday, Hims & Hers launched a compounded versionof Novo's oral Wegovy, approved just before Christmas and launched in early January. Novo was, not surprisingly, none too pleased. FDA Commissioner Marty Makary denounced“illegal copycat drugs” in an X post the same day without naming Hims, which then said it would notsell the oral weight loss drug. Novo sued the consumer healthcare company for patent infringement, seeking potentially hundreds of millions in damages. Thenit emerged that FDA hit Hims with a warning letter last year about infestations of vermin at a facility it owns, including rodents, birds and insects, as well as a live spider in a production area.The timing of all the Hims drama is interesting, because BioSpace was already covering Novo, Lilly and their blockbuster GLP weight loss drugs as both companies—and others—reported 2025 fourth quarter and full year earnings. EliLilly and Novo both reported last Wednesday, and both spoke of Novo's oral Wegovy launch positively. But the calls had two very different tones, as Lilly beat Q4 2025 analyst consensus by more than a billion dollars while Novo projected sales to decline by 5% in 2026.In other recent earnings calls, AbbVie touted strong Skyriziand Rinvoq sales, and the company continues to follow Johnson & Johnson's lead into the psychedelics space. And Biogen discussed the highly anticipated readout of its tau-targetingtherapy for Alzheimer's.Finally, in gene therapy, Sarepta struggles to recover from last year's patient deaths as other DMD contenders near the market; uniQure pauses two arms of a clinical trial for Fabry disease; and Ultragenyx resubmits its in vivo gene therapy UX111 for the treatment of Sanfilippo syndrome type A.

Moderator: Emanuele D'amico (Foggia, Italy) Guest: Anna Bersano (Milan, Italy) In this episode, Emanuele D'Amico speaks with Anna Bersano about red flags for rare and potentially treatable cerebral small vessel diseases. They discuss how early onset, family history, multisystem involvement, and characteristic MRI patterns can help distinguish monogenic and metabolic forms from sporadic disease, focusing on conditions such as CADASIL, Fabry disease, CARASIL, and COL4A1/2-related angiopathies, and emphasising the importance of structured diagnostic pathways and early recognition for appropriate management.

Good morning from Pharma Daily: the podcast that brings you the most important developments in the pharmaceutical and biotech world. Let's dive into the latest happenings in this dynamic industry.Starting with a look at the projected launch of top drugs anticipated in 2026, it's fascinating to see how these developments are poised to influence the market. These drugs could collectively generate a substantial $45.9 billion in annual sales by 2032, underscoring their economic impact and potential to address unmet medical needs. This reflects a robust pipeline of innovative treatments, marking significant therapeutic advancements on the horizon.Regulatory actions continue to be a pivotal force in shaping market dynamics. The FDA's recent issuance of complete response letters to Aquestive Therapeutics and Pharming resulted in contrasting market reactions, with Aquestive's shares rising while Pharming's declined. This scenario highlights the critical role of regulatory decisions in shaping company fortunes and investor confidence. Additionally, the FDA has introduced a precheck manufacturing program aimed at streamlining domestic drug production processes. This initiative is part of a broader trend to bolster U.S. pharmaceutical manufacturing capabilities amid global supply chain concerns, reflecting an effort to reduce complexities associated with setting up manufacturing plants domestically.In the realm of policy debates, there's notable discord among Trump administration officials over the future of COVID-19 vaccines in the U.S. market. This internal division could have far-reaching implications for public health strategies and vaccine accessibility, emphasizing ongoing challenges in pandemic management and policy alignment.Turning to scientific innovation, Daiichi Sankyo's development of antibody-drug conjugates (ADCs) has faced some setbacks. The company has discontinued an internal next-wave candidate and is experiencing delays in pivotal phase 3 trial readouts for its AstraZeneca-partnered candidate, Datroway. Despite these challenges, ADCs remain a promising area of oncology research due to their targeted therapeutic potential.Positive regulatory feedback from the European Medicines Agency's Committee for Medicinal Products for Human Use (CHMP) has provided a boost for companies like Novo Nordisk and Amgen. Novo Nordisk received approval for semaglutide for non-alcoholic steatohepatitis (NASH), highlighting its potential to address this liver disease with limited treatment options. Conversely, Amgen's Tavneos faces a re-review due to data integrity concerns, illustrating the rigorous scrutiny that accompanies pharmaceutical approvals and the importance of maintaining data integrity throughout development.Sanofi's pipeline reflects mixed outcomes as its GCS inhibitor failed a phase 3 trial for Fabry disease but showed promise in Gaucher disease. This underscores the inherent uncertainties and challenges faced in drug development, where promising candidates may not always meet clinical expectations.In broader scientific research, AstraZeneca identified 22 genes potentially linked to chronic diseases following Epstein-Barr virus infection. This finding advances our understanding of viral pathogenesis and its long-term health impacts, potentially guiding future therapeutic interventions.These developments illustrate a dynamic landscape where scientific innovation, regulatory oversight, and market forces converge to shape the future of healthcare. Breakthrough technologies and new therapeutic approaches hold promise for improving patient care and advancing drug development. However, navigating complex regulatory environments and addressing data integrity concerns remain critical challenges that companies must overcome to bring these innovations to market successfully.On another front, Roche's substantial $1.7 billion deal with Sanegene marks its re-engageSupport the show

In this episode of BioTalk Unzipped, hosts Gregory Austin and Dr. Chad Briscoe sit down with Glafabra CEO: Dr. Chris Hopkins, geneticist, biochemist, and biotech entrepreneur, to explore the science and strategy behind next generation cell-based gene therapies for rare diseases.With more than 25 years of experience spanning gene augmentation, rare disease biology, CRISPR licensing, and biotech formation, Dr. Hopkins shares how autologous, ex vivo engineered cell therapies may overcome key limitations of current enzyme replacement and viral gene therapies, particularly for Fabry disease.The conversation dives deep into: • How lentiviral gene augmentation in patient derived cells enables sustained enzyme production • Why redosing matters and where one time AAV therapies fall short • The scientific rationale for early intervention, including potential newborn treatment • Differences between autologous and emerging allogeneic approaches • Regulatory pathways for rare disease therapies and recent FDA developments • The role of non animal models in translational research • Montana's early access therapy law and its broader implications • Building biotech platforms amid a challenging funding environmentTopics include cell based gene therapy, Fabry disease, lentiviral vectors, stem cell engineering, rare disease drug development, regulatory science, and translational medicine. Subscribe to BioTalk Unzipped for in depth conversations with the scientists and leaders shaping the future of biomedical innovation.00:00 - Intro00:53 – Welcome to BioTalk Unzipped, Guest intro: Dr. Chris Hopkins02:10 – Guest charity: Environmental Defense Fund03:12 – His journey into rare-disease therapeutics and Glafabra05:58 – Discovering a new enzyme-deficiency therapy 06:39 – Current standard of care 07:42 – How the new autologous cell therapy works09:40 – Treating patients earlier (even newborns)10:33 – Emerging therapies - AAV gene therapy vs. cell-based therapy12:16 – Long-term results & repeat dosing14:30 – Future plans: T-cells & allogeneic approaches18:08 – New News: FDA resubmission for rare disease20:00 – Navigating FDA pathways22:06 – Non-animal testing & alternative models25:50 – Montana's early-access therapy law & medical tourism29:03 – Could other states follow?31:31 – Biotech's current funding challenges33:46 – New News: Gene therapy trial saves 4-year-old37:09 – Long-term vision for expanding therapies39:53 – Personal segment: outdoor life & skiing44:43 – Guest question on international trade Dr. Christopher Hopkinshttps://www.linkedin.com/in/christopherehopkins/ Glafabra - https://www.glafabra.com/ Environmental Defense Fund - https://www.edf.org/ Dr. Chad Briscoe

Nicola Longo MD, PhD, and Mark Roberts, MDDrs. Longo and Roberts discuss the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at WORLDSymposium 2025 in San Diego, California on February 4th-7th 2025 and is intended for healthcare professionals only.This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses.The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Longo will discuss the current treatment landscape and limitations in lysosomal disorders.Nicola Longo MD, PhDWhat I want to do today, is just place gene replacement therapy within the current landscape of lysosomal storage disorder treatment therapy. Gene therapy obviously has the potential of treating lysosomal disorder to correct the root cause of lysosomal storage disorder. The gene is defective, and what happen is that you can potentially either fix the gene or bypass the lack of the genetic product. But there are already therapies that are existing and are functioning. Obviously, in many cases, the lysosomal disorder is caused by defective production of an enzyme, which is defective.We can either replace the enzyme with enzyme replacement therapy, or provide chaperone for specific mutations that retain the synthesis of the enzyme, that however is not very functional. Another avenue that it is being reported is the utilization of substrate reduction therapy. A substrate accumulates, you prevent the synthesis of the substrate to reduce the accumulation of toxic material. What we know now is that this is not enough to produce many lysosomal disorders. In many cases, the lysosomal disorder result sometime in impairment of intracellular trafficking, and sometime in the function of other organelles.At the end, it results in the activation of the macrophagic system and inflammation. Already we have some therapy acting at this level. The end result of lysosomal storage disorder, there will be cell suffering and cell death, leading to a progression of the disease, and morbidity and mortality. Now, what therapy do we have available already? Obviously, hematopoietic stem cell transplantation has been around for quite some time.It has been the same thing that we do with gene therapy, except that instead of reintroducing the gene of the subject, we place gene of a subject who is not affected of the disease. This therapy has been proven effective in cases of MPS-1 and alpha-mannosidosis. But in many cases this has to be given way before symptoms start to be affected.Enzyme replacement therapy has been around for quite some time, starting with Gaucher disease, and now that it is available for a list of diseases that are there, so it's like Fabry, Gaucher, Pompe, different types of mucopolysaccharidosis, alpha-mannosidosis, acid lipase deficiency, 1 neuronal ceroid lipofuscinosis, and Niemann-Pick type A and B.Obviously the advantage of this therapy, they give back the enzyme that it is defective. But the disadvantage that many time they cannot enter specialized areas such as the brain. There is already the second generation of enzyme replacement therapy that it is available. With this second generation, some of the newer drugs are more effective in terms of cellular uptake, or in terms of having a prolonged half-life and prolonged activity.Then there are pharmacological chaperone therapy, and the one which is FDA approved is migalastat for Fabry disease, under study is ambroxol for Gaucher disease. The disadvantage of this therapy that only a selected number of mutations respond to this therapy.Substrate reduction therapy has been introduced for Gaucher disease many years ago with miglustat, and it was followed by eliglustat. Both of them are effective, and some of them more effective than other, simply because of the fewer side effects of eliglustat as compared to miglustat. But at the same time, eliglustat does not pass the blood brain barrier.Finally, the newer agents that are already administered, N-acetyl-L-leucine and arimoclomol, both approved for Niemann-Pick type C, they act more on the downstream effect of the lysosomal storage disorder, either by stabilizing neuronal cell activity or by reducing the inflammation that is present in the brain.In the next part, Dr. Longo will discuss gene replacement therapy in lysosomal disorders.

Nicola Longo MD, PhDProfessor and Vice Chair of Human Genetics,Allen and Charlotte Ginsburg Chair in Precision Genomic Medicine,Division of Clinical Genetics, Department of Human Genetics,University of California at Los Angeles (UCLA), Los Angeles, CA, USAMark Roberts, MDProfessor and Consultant Neurologist,University of Manchester, Manchester, UKResearch Lead for Adult Metabolic Medicine at Salford Care Organisation, Manchester, UKDrs. Longo and Roberts discussed the current status of gene therapies in rare neuromuscular disorders in this eight-part podcast series. This is derived from the symposium that was presented at World Symposium 2025 in San Diego, California on February 4th through 7th, 2025, and is intended for healthcare professionals only. This podcast includes information about investigational compounds that do not yet have a regulatory approval or authorization for a specific indication. The safety and efficacy of the agents under investigation have not been established and contents of this podcast shall not be used in any manner to directly or indirectly promote or sell the product for unapproved uses. The views, thoughts, and opinions expressed in this presentation belong solely to the author and are subject to change without notice. The contents of this presentation do not constitute an endorsement of any product or indication by Astellas. In this part, Dr. Longo will discuss ongoing gene therapies in lysosomal disorders.Nicola Longo MD, PhDI'm going to present to discuss some example of ongoing gene therapy for lysosomal disorder. There are gene therapy in development for both Fabry disease and some of this involve ex vivo gene therapy, many others involve systemic administration with an AAV, Gaucher disease type 1 that affect the periphery, and Gaucher disease type 2, where the replacement should occur within the central nervous system because this condition affects the brain. There is already one approved gene therapy for lysosomal disorder, which is for the early onset metachromatic leukodystrophy. This has been approved both in Europe and now even in the United States, which consists of ex vivo gene therapy with the administration of an extra gene that restore the function of the defective enzyme. Now there are many others that are ongoing for the same indication. There are gene therapy programs for GM1 and GM2 gangliosidosis, and at least one for Krabbe disease. It is important to know that some of these condition are actually included in the recommended uniform screening panel. Basically, we would have access to patients in a timely manner for some of these conditions. Then there are several gene therapy under development for the mucopolysaccharidoses, including MPS-IH, MPS-II, MPS-IIIA and MPS-IV.There are different type of lysosomal disorders, the one caused by mutation, integral membrane protein, not enzyme within the lysosome, but protein that are present on the membrane of the lysosome. This gene therapy that have been tested, it is for cystinosis, that it is caused by a defective lysosomal and for Danon disease, which is caused by a deficiency of an integral membrane part. Finally, one lysosomal disorder, which obviously seems a metabolic condition, but it is really not, is glycogen storage disease type 2 or Pompe disease, in which there is the intralysosomal accumulation of glycogen. There are several ongoing clinical trials to try to correct the problem in this condition.Now, I'm going to discuss some of the most advanced program in the lysosomal storage disorder. This include one for Fabry, which is on an accelerated approval pathway with phase 1 and 2 data, one for Gaucher disease type 1. Obviously, I'm going to discuss the one that has been already approved for metachromatic leukodystrophy. There is one for Hunter syndrome, and the difference of the one for Hunter syndrome, it is an example of the direct administration of gene therapy within the central nervous system.Finally, there is one ongoing for glycogen storage disease type 2 or Pompe disease in adult patients. In gene therapy for metachromatic leukodystrophy, it was the first gene therapy approved for lysosomal disorder in human, and this requires harvesting the CD34 cell from affected patient and then introducing the [inaudible 00:04:32] gene back in this cell, and then placing them back inside the patient again. This has been very effective in patients who were treated early, and obviously, the treatment needs to occur before there is irreversible brain damage in this patient.In the next part, Dr. Roberts and Longo will discuss treatment with gene therapies.

De Monaco, on croit tout connaître... et pourtant. Au milieu du XIXe siècle, la seigneurie devenue principauté en 1612 est amputée de la presque totalité de son territoire. Seuls et inaccessibles, l'aride Rocher et le port semblent condamnés. Pourtant, de ces écueils, Charles III, descendant des Grimaldi, va faire des atouts. Entre tradition et modernité, le petit pays se fraie un chemin, toujours avec l'appui des régimes qui, en France, se succèdent. Ce récit est aussi celui d'une série de personnages visionnaires : la famille Blanc fondatrice d'un empire, Monte-Carlo et sa Société des Bains de Mer ; Albert Ier, prince savant fondateur de l'océanographie?; Serge de Diaghilev, créateur des Ballets russes?; Raoul Gunsbourg et René Blum, frère de Léon, qui président aux destinées de l'opéra et du théâtre... De Charles Garnier à Jean Cocteau, d'Albert Santos-Dumont à Jacques-Yves Cousteau, artistes, sportifs, scientifiques contribuent à cette aura improbable et mythique. Une histoire inédite fondée sur des archives françaises et monégasques jusque-là inexploitées.Pierre Fabry est notre invité en partenariat avec le Salon du Livre d'Histoire de Versailles, pour les Interviews HistoireHébergé par Audiomeans. Visitez audiomeans.fr/politique-de-confidentialite pour plus d'informations.

ChairProfessor Yoshikatsu EtoAdvanced Clinical Research Center, Southern Tohoku Research Center for Neuroscience, Tokyo, JapanSpeakersDr Nicole Muschol International Center for Lysosomal Disorders (ICLD), University Medical Center, Hamburg-Eppendorf, GermanyProfessor Patrício AguiarInborn Errors of Metabolism Reference Center, Unidade Local de Saúde de Santa Maria / Faculty of Medicine, Lisbon University, PortugalDr Robert HopkinCincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USAProfessor Yoshikatsu EtoWelcome to the Chiesi symposium. The title of this symposium, Catching the Clues, Changing the Cause of Lysosomal Storage Disease: Illuminating Complex Pathway of Rare Disease with Fabry Disease, Alpha-Mannosidosis, in Focus.This is a disclaimer: Following discussion does not focus on or depict any specific products manufactured by any pharmaceutical company. Patient cases are for medical discussion only and reflect the faculty own experience. They represent a typical clinical scenario. This presentation in part and whole may not be reproduced and not copy and not recording.I'm Dr. Eto from Tokyo, Japan, and the three distinguished speakers: Dr. Nicole Muschol from Germany, Eppendorf University. Professor Aguiar, the Portuguese, The Inborn Errors of Metabolism Reference Center, and also Professor Robert Hopkin, Cincinnati Children's Hospital, United States.The purpose of this symposium: Explore the patient journey across the LSD continuum, focusing on the unmet needs and diagnosis, and treatment initiation, and long-term management, and utilize case-based discussion focused on Alpha-mannosidosis, Fabry disease to highlight disease-specific challenges. Access where challenge persist in patient journey, and where tailored intervention can improve outcomes.Introduction of LSD patient journey with a spotlight on Fabry disease, Alpha-mannosidosis. Challenge to the diagnosis and then treatment and monitoring. Common LSD challenges over the patient journey, as shown here, and at least more than 70 different lysosomal diseases known. Incidence is about 1:5,000-1:8,000 in newborn. In the literature, much higher incidence.Multi-organ manifestation in many organ involved, and clinical heterogeneity are very complicated. The new screen method has been established already. Identify patient presymptomatically. That important by the newborn screening, something like that, early treatment essential. After the diagnosis treatment start, early and the presymptomatic treatment initiation, and usually delayed diagnosis, delayed treatment. Perceived burden of treatment may delay treatment start in patient milder form. Milder form is very difficult in the many cases, and particularly for Fabry disease also.After the treatment start and then monitoring, as you know, we discussed about the monitoring rely on the combination of clinical assessment, laboratory test, biomarkers, and imaging, and several other factors. Biomarkers and ADA drug assay lack standardization. Actually, the Alpha, and Beta, or [inaudible 00:03:19] Fabry disease, different ADA-titled measurement. Also, the patient experience between clinical visit, ERT infusion is under-reported.We discuss today two topics, two disease. Alpha-mannosidosis is very rare. In Japan, only few cases, and caused by the deficiency of Alpha-mannosidase, an accumulation of mannose-rich oligosaccharides and inheritance of autosomal-recessive. Age of onset is a very early period and younger period, adult period. Incidence approximately is very rare, 1:500,000.There are diseases we don't know exactly. If you have a treatment, maybe your incidence is much increased, and severe or attenuated [inaudible 00:04:09]. Alpha-mannosidosis is still a new disorder, and must differentiate from Mucopolysaccharidosis.On the other hand, the Fabry disease I think is very common. There are many discussion already in the past 20 years. Deficiency of a-Gal A, accumulation of Gb3⁵­­ or Lyso-Gb3, many other glycoprotein, which a terminal of a-Gal A, and X-chromosome. This is very important X-chromosomal inheritance. In case of this, and usually, female does not affect, but in case of Fabry, more of female also involved.First symptom, imagine at any age. Then incidence about 1:40,000-1:60,000. But depending on the country, as you know, classical form, about 1:40,000. Recently, after the newborn screening, late onset, very high incidence. About 90% of it—actually, we carried out a newborn screening in Japan—90% are late onset. But the clinical variety, so many clinical varieties, so incidents here, 1:3,000-1:4,000, something like that. Now, using the Alpha-mannosidosis and Fabry disease as an illustrative example, we will explore these disorders.

In this conversation, Louka Parry and Dr Amie Fabry explore the critical themes of hope, agency, and the holistic development of children in education. They discuss the importance of play, emotional intelligence, and the need for collaboration among educators, families, and communities to create a nurturing environment for children. The conversation emphasizes the need to focus on the whole child and the profound impact of early childhood education on lifelong learning and development.

This week we welcome Joseph A. Magnus back to the show which means the return of Master Blender Nancy Fraley! This episode she brings with her Head Distiller Will Fabry and the three of us sit down and talk all things whiskey and all things Joseph A. Magnus! Nancy of course synonymous with good whiskey across the industry and Will, coming out of the gate strong and taking the future reigns at Magnus, this is a great conversation for anyone that loves good whiskey! We go through the history of Joseph Magnus, the man, the whiskey and how Nancy has brought a brand back to life using the original whiskey as her DNA building blocks. We talk about her journey through the whiskey world and highlight Wills rise through the whiskey ranks. It's a master class on all things whiskey this week as the 11th season continues on The Bourbon Showdown Podcast! 

Send us a textWant to know what “better hearing in noise” actually sounds like when AI, sensors, and human care work in sync? We bring together Starkey's president and CEO, Brandon Sawalich, and Chief Hearing Health Officer, Dr. Dave Fabry, for a candid look at Starkey Omega AI—why it exists, what changed from Edge AI, and how it turns hearing aids into confident, 360-degree listening tools without sidelining professionals.We dig into DNN 360 and how deep neural networks now blend noise management with directionality and low-latency binaural processing to deliver measurable gains in speech understanding. Dave explains the role of IMU sensors in tracking movement and intent—think following a walking companion at your side—while Brandon shares how being privately held enables a patient-first pace of innovation. TeleHear AI adds timely support: when a clinic visit isn't possible, users can describe the problem, get smart on-device adjustments, compare results, and keep what works, with changes reported back to their clinician. It's an example of “friendly AI” that saves time, lifts outcomes, and preserves the provider-patient bond.We also talk access and ethics. From fall detection offered across tiers to StarkeyCares and Hear Now, the team argues that safety and dignity shouldn't be premium features. Data logging grows from hours-worn into environment-aware insights that inform personalization, reduce returns, and drive satisfaction. And for clinicians worried about being replaced, the takeaway is clear: the irreplaceable value is knowing the person behind the audiogram, translating powerful tech into the two or three features that matter most to that life.If you care about hearing technology, clinical excellence, health equity, and where AI is truly useful, this conversation maps the road ahead—fast, human, and focused on outcomes. Subscribe, share with a colleague who still thinks “adaptive directionality” is enough, and leave a quick review telling us which Omega AI feature you want to try first. Connect with the Hearing Matters Podcast TeamEmail: hearingmatterspodcast@gmail.com Instagram: @hearing_matters_podcast Twitter: @hearing_mattasFacebook: Hearing Matters Podcast

In this episode of FP&A Unlocked, host Paul Barnhurst is joined by Alex Fabry, the founder of KFA, an advisory firm focused on scaling businesses.. Alex takes us through his journey from FP&A to private equity, sharing his valuable experiences working at firms like Saber, BCG, and Charles Bank Capital Partners. Their conversation explores how FP&A can serve as a stepping stone to leadership and investment roles, and the key skills that helped Alex succeed in both corporate finance and private equity.Alex Fabry is the founder and managing partner of KFA, a private investment and advisory firm focused on growing and scaling businesses in Saint Louis. Before founding KFA, Alex started his career in FP&A roles at Saber, where he supported multi-billion dollar business units, managed complex budgets, and played a pivotal role in the $1.2 billion sale of Active Network to Global Payments. Alex also has experience as a Vice President at Charles Bank Capital Partners. He holds an MBA from the Kellogg School of Management at Northwestern University.Expect to Learn:How FP&A provides a solid foundation for leadership and private equity operator roles.The significance of automation in improving FP&A efficiency and enabling more strategic analysis.Why private equity and FP&A require different skill sets but can work in tandem to drive business growth.Key skills FP&A professionals need to transition into private equity.The value of relationships and trust in both FP&A and private equity environments.Here are a few quotes from the episode:“The real value of FP&A is in helping businesses make decisions, not just report numbers.” - Alex Fabry“Being a business partner looks different depending on the business—it's about them, not you." - Alex FabryAlex shared thoughtful and practical insights into the evolving role of FP&A in driving business success and the transition to private equity. He highlighted the importance of automation and strategic analysis in improving financial operations, the value of building strong business relationships, and how FP&A professionals can leverage their skills to thrive in the private equity space. Alex's journey serves as a valuable playbook for those looking to navigate the complexities of both FP&A and private equity, emphasizing the need for adaptability, operational efficiency, and a keen understanding of the bigger business picture.Campfire: AI-First ERP:Campfire is the AI-first ERP that powers next-gen finance and accounting teams. With integrated solutions for general ledger, revenue automation, close management, and more, all in one unified platform.Explore Campfire today: https://campfire.ai/?utm_source=fpaguy_podcast&utm_medium=podcast&utm_campaign=100225_fpaguyFollow Alex:LinkedIn - https://www.linkedin.com/in/alex-fabry/Earn Your CPE Credit For CPE credit, please go to earmarkcpe.com, listen to the episode, download the app, answer a few questions, and earn your CPE certification. To earn education credits for the FP&A Certificate, take the quiz on Earmark and contact Paul Barnhurst for further details.In Today's Episode[02:27] - Alex's Background[03:50] - What Makes Great FP&A?[14:03] - The Three Key Questions in Finance[18:38] - Private Equity...

Matt and Fabry talk about New season coming up and Transfer Market, plus a preview of the match against Lecce for Matvh Day 1 of Seria A 2025/26

In this episode, Prof Chris Vorster (Director, Centre for Human Metabolomics, North-West University, South Africa), Sarah Viall (Assistant Professor, Molecular and Medical Genetics, Oregon Health & Science University, USA) and PD Dr. med. Ulrike Mütze (Consultant, Heidelberg University Hospital, Germany) join Silvia Radenkovic and Rodrigo Starosta to explore the evolving landscape of newborn screening. They discuss national and international variations in practice, how to maintain consistency and quality, and the future scope of testing – including opportunities to improve access in resource-limited settings. Authors' opinions are their own and do not represent their institutions. Referenced papers include: Newborn screening in South Africa: the past, present, and plans for the future. Malherbe et al (2024) Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. McHugh et al (2024) Five years of newborn screening for Pompe, Mucopolysaccharidosis type I, Gaucher, and Fabry diseases in Oregon. Viall & Held (2025) Long-term outcomes of adolescents and young adults identified by metabolic newborn screening. Mütze et al (2025) Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening. Mengler et al (2024) Vitamin B12 Deficiency Newborn Screening. Mütze et al (2024) The role of exome sequencing in newborn screening for inborn errors of metabolism. Adhikari et al (2020)

Our great friend Candice Fabry is BACK with a career update and some timely advice for all of us in the area of "Taking Inventory." Candice is a longtime College and Pro Soccer Coach and she's also the Founder of Fearless & Capable. You get all of this and more on The Educational AD Podcast!

After a rare Arthurian manuscript was discovered hidden in an old book in the Cambridge University Library, a team of academics and librarians worked together to decipher and preserve the rare finding.

Intellectuels, chefs d'entreprises, artistes, hommes et femmes politiques... Frédéric Taddeï reçoit des personnalités de tous les horizons pour éclairer différemment et prendre du recul sur l'actualité de la semaine écoulée le samedi. Même recette le dimanche pour anticiper la semaine à venir. Un rendez-vous emblématique pour mieux comprendre l'air du temps et la complexité de notre monde.Distribué par Audiomeans. Visitez audiomeans.fr/politique-de-confidentialite pour plus d'informations.

This program is supported by educational grants from Amicus Therapeutics, Inc. and Chiesi USA Inc.Fabry disease is an inherited lysosomal storage disease caused by mutations in the GLA gene, disrupting the function of the enzyme, α-galactosidase. This results in the accumulation of globotriaosylceramide (GL-3) and its deacylated form, globotriaosylsphingosine (lyso-GL-3), leading to progressive disruption of multiple organ systems. There are currently three treatment options available for Fabry disease, including two enzyme replacement therapies, agalsidase beta and pegunigalsidase alfa, and a chaperone therapy, migalastat. There are also other treatments in development (e.g., gene therapy, other enzyme replacement therapies) and some that are available in other countries (e.g., agalsidase alfa). Due to the small patient population and variability in Fabry disease severity, it is challenging to develop properly powered, placebo-controlled clinical trials. As such, data shared at conferences like WORLDSymposium 2025 are crucial for guiding best practices in this disease area. This program, led by Dr. Eric Wallace, provides a summary of clinically relevant data presented at WORLDSymposium 2025 that can enhance the care of patients with Fabry disease.  Target AudienceThis activity has been designed to meet the educational needs of physicians specializing in neurology, nephrology, cardiology, gastroenterology, ophthalmology, and dermatology. Other members of the care team may also participate.Learning ObjectivesAfter participating in the activity, learners should be better able to: Describe the latest research being presented to better manage individuals with Fabry disease and its clinical relevance.Eric Wallace, MDProfessor of MedicineDepartment of NephrologyUniversity of Alabama Medical SchoolDisclosure StatementAccording to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.Disclosure of relevant financial relationships are as follows:Faculty Educator/PlannerDr. Wallace discloses the following relevant financial relationships with ineligible companies:Advisory Board Consultant: Sanofi-Genzyme, Chiesi, Kyowa Kirin, Sangamo, NateraGrant/Research Support: Sanofi-Genzyme, Chiesi, Uniqure, Idorsia, Amicus Other Planners for this activity have no relevant financial relationships with any ineligible companies.This activity will review off-label or investigational information.The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.Accreditation and Credit DesignationIn support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.PhysiciansAmerican Academy of CME, Inc., designates this enduring material for a maximum of 0.50 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. Other HCPsOther members of the care team will receive a certificate of participation.There are no fees to participate in the activity.  Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days.Hardware/Software RequirementsWindows Requirements: • Operating system: Windows XP Service Pack 2 or later • Browser: Internet Explorer 7 or later, Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connectionMacintosh Requirements: • Operating system: Mac OS X v10.3 or later • Browser: Mozilla Firefox 2.5 or later • Internet connection: DSL, cable modem, or other high-speed connectionPrivacyFor more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm  For more information about CheckRare's privacy policy, please access https://checkrare.com/privacy/ContactFor any questions, please contact: CEServices@academycme.orgCopyright© 2025. This CME-certified activity is held as copyrighted © by American Academy of CME and CheckRare CE. 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Dans cet épisode, Frédéric Taddeï reçoit Sébastien Broca pour décrypter le pouvoir des GAFAM et les dérives du numérique.Puis, avec Olivier Rajchman, il plonge dans les folles coulisses du cinéma, entre chefs-d'œuvre et réalisateurs obsessionnels.Une conversation éclairante entre technologie, société et 7e art.Notre équipe a utilisé un outil d'Intelligence artificielle via les technologies d'Audiomeans© pour accompagner la création de ce contenu écrit.Distribué par Audiomeans. Visitez audiomeans.fr/politique-de-confidentialite pour plus d'informations.

Matt and Fabry are back! This week's episode recaps how Genoa have fared thus far under Patrick Vieira. Plus, the gang preview il grifone's upcoming match against Cagliari

João GonçalvesFaculty of PharmacyUniversity of LisbonLisbon, PortugalPaolo CalicetiDepartment of Pharmaceutical and Pharmacological SciencesUniversity of PadovaPadova, ItalyWhat Is PEGylation and Why Is It Important?We will begin by examining the clinical uses of therapeutic proteins, and their applications in healthcare. Next, we will discuss the inherent limitations of therapeutic proteins, including challenges such as pharmacokinetic (PK) profiles, protein aggregation during storage, and potential immune responses. The session will then delve into the process of PEGylation, where polyethylene glycol (PEG) is conjugated to functional amino acid groups on the protein surface. This modification may enhance the properties of therapeutic proteins, offering advantages in stability, half-life, and immunogenicity.Biopharmaceutical and Immunological Properties of PEGylated ProteinsWe will explore the biopharmaceutical and immunological properties of PEGylated proteins, focusing on how their unique structure and composition impact their function. We will discuss how each PEGylated protein has distinct properties based on PEG architecture, molecular weight and degree of conjugation that cannot be generalized across different pegylated molecules, highlighting the variability in pharmacokinetic (PK) characteristics such as half-life, absorption, distribution, and elimination. These factors can significantly influence clinical outcomes, including dosing intervals and overall therapeutic effectiveness. We will also address the potential clinical advantages and limitations of PEGylation, with real-world examples to illustrate how these proteins are used in practice.Immunogenicity Considerations of PEGylated ProteinsWe will explore the immunogenicity of PEGylated proteins, examining both the potential benefits and risks associated with PEG modification. While PEGylation can trigger immune responses against PEG itself or the PEGylated protein, it can also help mask epitopes and reduce anti-drug antibodies formation. Drug- and patient-related factors that influence immunogenicity risk will also be covered, along with the prevalence and impact of pre-existing anti-drug antibodies (ADAs).We will discuss the potential clinical consequences of immune reactions to PEG or PEGylated proteins, and how the risk of such responses can vary depending on the unique properties of each PEGylated protein. The session will also address strategies to mitigate anti-PEG immunogenicity, as well as approaches for monitoring immunogenicity across different stages of drug development—from preclinical studies to post-marketing surveillance. Additionally, we will explore tools that may help predict therapeutic responses to PEGylated proteins, touching on potential areas for future research.Discussion and ConclusionBy the end of the session, participants will gain a comprehensive understanding of:How PEGylation represents a major technological advancement in the development and optimization of therapeutic proteins.How PEGylation affects both the biopharmaceutical properties and clinical applications of therapeutic proteinsImmunogenicity in the context of PEGylated proteins and the strategies used to manage and predict immune responses.The role of PEGylation in therapeutic outcomes and the future opportunities for innovation in this field.

Matt and Fabry react to the sacking of Alberto Gilardino and appointment of Patrick Vieira as Genoa's new Mister.

Matt and Fabry react to Genoa's recent string of fixtures, discuss Balotelli's arrival, and tip their caps to the marketing of Genoa's third kit.

Send us a textJoin us for a fascinating conversation with Dr. David Fabry, Chief Hearing Health Officer at Starkey, as we explore the groundbreaking innovations in hearing aid technology. Discover how advancements in machine learning and deep neural networks are transforming these devices from manual tools into intelligent systems that automatically adjust to any acoustic environment, enhancing the user's auditory experience.Dr. Fabry takes us through an illuminating journey into the realm of artificial intelligence in audiology. By drawing parallels between a child's language acquisition and the learning process of deep neural networks, he vividly explains how these technologies have evolved to dramatically improve signal-to-noise ratios. We dive into the transition from traditional machine learning to modern DNN, highlighting how real-time processing and open real-time analysis are revolutionizing noise management by offering a fresh perspective on sound environments.In our final segment, we explore the significant role of AI in enriching hearing aid features, from binaural fusion to sound localization and the integration of voice assistants. With insights on the exponential growth of computational power and the pivotal role of apps like HearShare, we discuss how AI technologies foster user independence, safety, and improved quality of life. Tune in to uncover how these cutting-edge advancements are not only enhancing auditory perception but also redefining the future of hearing aids.While we know all hearing aids amplify sounds to help you hear them, Starkey Genesis AI uses cutting-edge technology designed to help you understand them, too.Click here to find a provider near you and test drive Starkey Genesis AI! Support the showConnect with the Hearing Matters Podcast TeamEmail: hearingmatterspodcast@gmail.com Instagram: @hearing_matters_podcast Twitter: @hearing_mattasFacebook: Hearing Matters Podcast

Matt and Fabry recap Genoa's current situation with the 5-1 loss against Atalanta and look forward to a come back at the weekend's match against Bologna

Charlotte Cooper Sterry was a tennis player who set records during her lifetime that remained unbroken for almost a century. One of them still stands. Research: Yang, Heewon, and Kelly Chandler. "Tennis." Encyclopedia of Recreation and Leisure in America, edited by Gary S. Cross, vol. 2, Charles Scribner's Sons, 2004, pp. 351-354. Gale In Context: U.S. History, link.gale.com/apps/doc/CX3434800256/GPS?u=mlin_n_melpub&sid=bookmark-GPS&xid=64f7cfa9. Accessed 15 July 2024. com. “The Oldest' Ladies Champions.” 9/29/2017. https://www.wimbledon.com/en_GB/news/articles/2017-09-29/2017-09-29_2017-09-29_the_oldest_ladies_singles_champions.html Bennett, Courtney. "Wimbledon." St. James Encyclopedia of Popular Culture Online, Gale, 2013. Gale In Context: U.S. History, link.gale.com/apps/doc/PUXWIE130945815/GPS?u=mlin_n_melpub&sid=bookmark-GPS&xid=8c49dec7. Accessed 15 July 2024. Reilley, Lucas. “Tennis: The Sport that Loves to Kill Royalty.” 10/12/2018. https://www.mentalfloss.com/article/560200/tennis-related-royal-deaths "Tennis." Britannica Library, Encyclopædia Britannica, 25 Mar. 2024. libraries.state.ma.us/login?eburl=https%3A%2F%2Flibrary.eb.com&ebtarget=%2Flevels%2Freferencecenter%2Farticle%2Ftennis%2F108495&ebboatid=9265899. Accessed 15 Jul. 2024. Fabry, Merrill. “Why Is Tennis Scored So Weirdly?” Time. 7/14/2023. https://time.com/5040182/tennis-scoring-system-history/ “Wingfield and the birth of lawn tennis.” 5/15/2024. https://www.wimbledon.com/en_GB/news/articles/2024-05-15/wingfield_and_the_birth_of_lawn_tennis.html Smyth, J. G. "Sterry [née Cooper], Charlotte Reinagle (1870–1966), tennis player." Oxford Dictionary of National Biography. October 04, 2012. Oxford University Press. Date of access 15 Jul. 2024, https://www-oxforddnb-com.proxy.bostonathenaeum.org/view/10.1093/ref:odnb/9780198614128.001.0001/odnb-9780198614128-e-36284 Chambers, Mrs. Lambert. “Lawn Tennis for Ladies.” New York. Outing Publishing Company. 1910. https://archive.org/details/lawntennisforla00chamgoog/ Team GB. “Charlotte Cooper: The original trailblazer of women's tennis.” 3/7/2021. https://www.teamgb.com/article/charlotte-cooper-the-original-trailblazer-of-womens-tennis/PFWDdf3Zq306yiPqsw6VA1 Little, Alan. “Wimbledon Ladies : a centenary record 1884-1984 : the Single champions.” London : Wimbledon Lawn Tennis Museum. 1984. https://archive.org/details/wimbledonladiesc0000litt/ Myers, Arthur Wallis. “Lawn Tennis at Home and Abroad.” Scribner's. 1903. https://archive.org/details/lawntennisathom00myergoog/ Hillyard, George Whiteside. “Forty Years of First-class Lawn Tennis.” Williams & Norgate. 1924. https://books.google.com/books?id=lHtYAAAAYAAJ Weaver, Harry. “'Chattie' the Champion.” The London Observer. 6/27/1965. https://www.newspapers.com/image/258000462/ Robyns, Gwen. “Wimbledon; the hidden drama.” Newton Abbot, David & Charles. 1973. Troy Lennon History Editor. "First woman Olympic tennis champ was deaf". The Daily Telegraph (Australia), September 22, 2020 Tuesday. advance-lexis-com.proxy.bostonathenaeum.org/api/document?collection=news&id=urn:contentItem:60WR-RPC1-F0JP-W1PJ-00000-00&context=1519360. Accessed July 16, 2024. Robertson, Max. “Wimbledon 1877-1977.” London : Barker. 1977. See omnystudio.com/listener for privacy information.

In this episode of the Heart podcast, Digital Media Editor, Professor James Rudd, is joined by Dr Niccolo Maurizi from Lausanne, Switzerland. They discuss his recent paper in Heart on a Swiss Fabry's regsitry. If you enjoy the show, please leave us a podcast review at https://itunes.apple.com/gb/podcast/heart-podcast/id445358212?mt=2 or wherever you get your podcasts - it's really helpful. Link to published paper: https://heart.bmj.com/content/early/2024/05/15/heartjnl-2024-323975

In this episode, we turn the tables on our host, Dave Fabry. For the first time, Dr. Fabry finds himself on the other side of the Sound Bites microphone, to take our listeners on a deep dive into Starkey's industry-leading hearing technology. From artificial intelligence (AI) to deep neural networks (DNN), learn how this technology is making life better for patients and how hearing professionals can take small steps toward implementing it into their practices. Hearing Matters host Doug Beck guest hosts this special episode of Sound Bites. To learn more about the latest in Starkey's hearing technology, visit starkeypro.com Link to full transcript.

Candice Fabry, the Head Women's Soccer Coach at Ottawa University in Kansas is BACK on Wednesday Wisdom and today she shares the Connection between Motivation and Commitment! Candice is also the Founder of Fearless and Capable - a Women led Mentoring and Coaching platform. THIS is The Educational AD Podcast! --- Support this podcast: https://podcasters.spotify.com/pod/show/educational-ad-podcast/support

In this episode, we spoke with Caleb Fabry, owner of Town & Country Pest Solutions in Rochester, New York. Caleb discusses the importance of a strong company culture and employee engagement. By using the Culture Index, he aligns team members with roles that fit their unique attributes while enhancing communication. How can utilizing culture tools help to retain team members, create mission alignment, and beat your financial goals? A significant part of Caleb's marketing strategy involves a dedicated in-house team focused on video content and social media. This approach has helped Town & Country Pest Solutions build a strong online presence and engage effectively with customers. How might investing in professional video content and social media marketing benefit your business? Learning from peer business owners has been crucial for Caleb's success. Joining leadership groups has provided valuable insights and the confidence to implement new ideas. Caleb has embraced the word "yes" when it comes to new opportunities, even outside his comfort zone. Who is pushing you to reach new heights and implement new strategies?

In this first part of our four-part series on Fabry disease, we feature William Burns, MD, a biochemical geneticist at Greenwood Genetic Center in Greenwood, South Carolina. Dr. Burns summarizes this rare disease, including current management strategies.Fabry disease is a lysosomal storage disorder, meaning that a glycosphingolipid called GL-3 accumulates in the lysosomes, causing tissue damage; many cell types are affected.The disease is caused by mutations in the GLA gene, resulting in nonfunctional or dysfunctional alpha-galactosidase A, a lysosomal enzyme. The mutations can be inherited, so multiple family members can have the disease.Fabry disease is a multisystemic disease, affecting many organs, including the heart, kidney and nervous system, resulting in life-threatening complications and a reduced life expectancy. Early signs of the disease start in childhood and adolescence, but it is a progressive, lifelong condition.Newborn screening has now been performed in several countries, yielding a prevalence ranging from 1 in 1,368 to 1 in 8,882 births.

We discuss the principles and application of automatic tube compensation (ATC) on modern ventilators, with its creator Ben Fabry. Dr. Fabry is a professor and chair of biophysics at University of Erlangen-Nuremberg, originally trained as an electrical engineer, who originally developed ATC as part of his PhD program. Find us on Patreon here! Buy your … Continue reading "Episode 75: Automatic tube compensation, with Ben Fabry"

Much of the challenge of developing genetic medicines lies in having the right vector to deliver the therapy to the cells within the body where they need to go. 4D Molecular Therapeutics has developed platform technology that generates large numbers of genetically diverse, synthetic adeno-associated viral vectors that have desired characteristics using a process known as directed evolution. It is using these vectors to build a pipeline of genetic medicines across a broad set of conditions. We spoke to Alan Cohen, senior vice president of clinical development and therapeutic area head of pulmonology for 4DMT, about the limitations of existing vectors for genetic medicines, 4DMT's directed evolution platform technology, and its programs in cystic fibrosis and Fabry disease.

Beat the Kayfabe Effect at our Patreon: https://patreon.com/cartoonistkayfabe Ed's Links (Order RED ROOM!, Patreon, etc): https://linktr.ee/edpiskor Jim's Links (Patreon, Store, social media): https://linktr.ee/jimrugg ------------------------- E-NEWSLETTER: Keep up with all things Cartoonist Kayfabe through our newsletter! News, appearances, special offers, and more - signup here for free: https://cartoonistkayfabe.substack.com/ --------------------- SNAIL MAIL! Cartoonist Kayfabe, PO Box 3071, Munhall, Pa 15120 --------------------- T-SHIRTS and MERCH: https://shop.spreadshirt.com/cartoonist-kayfabe --------------------- Connect with us: Instagram: https://www.instagram.com/cartoonist.kayfabe/ Twitter: https://twitter.com/CartoonKayfabe Facebook: https://www.facebook.com/Cartoonist.Kayfabe Ed's Contact info: https://Patreon.com/edpiskor https://www.instagram.com/ed_piskor https://www.twitter.com/edpiskor https://www.amazon.com/Ed-Piskor/e/B00LDURW7A/ref=dp_byline_cont_book_1 Jim's contact info: https://www.patreon.com/jimrugg https://www.jimrugg.com/shop https://www.instagram.com/jimruggart https://www.twitter.com/jimruggart https://www.amazon.com/Jim-Rugg/e/B0034Q8PH2/ref=sr_tc_2_0?qid=1543440388&sr=1-2-ent

When Target embraces emerging categories, we take notice. The hosts discussed the retailer's new curated endcaps of non-alcoholic cocktails and wine and what it means for the nascent set of zero-proof beverages. They also spoke about why Nosh is broadening its coverage (and tapped a new leader to helm the vertical) and how a fast-growing hydration brand and popular sparkling water company have each taken a bigger-is-better approach to their packaging,  This episode also features an interview with Will Fabry, the master distiller for CraftCo, a Michigan-based portfolio company that owns several acclaimed spirit brands, including  Jos. A. Magnus and Fox & Oden. Fabry spoke about CraftCo's distilling philosophy, how it operates at the intersection of production, consumer demand and pricing, and how he attempts to improve upon and become more proficient in his role. Show notes: 0:40: More Green Juice & THC. LinkedIn Loves Monica. A ‘Perfect' Upgrade. Kids + Tuna… Hmmm. – The hosts shared their thoughts on healthy habits for 2024 and chatted about Nosh's expanded lens and the warm reception online for its new managing editor, Monica Watrous. They also spoke about Lemon Perfect's move to a larger bottle and Spindrift's similar shift, why they're not convinced that a tuna company's attempt to woo kids will work and a sports drink brand's new line of better-you-sodas. 28:24: Interview: Will Fabry, Master Distiller, CraftCo – A 20-plus year veteran of the culinary industry, Fabry joined CraftCo in 2018. In our conversation, he spoke about the impact of Michigan's climate in how the company's spirits are finished, how he and his team are consistently meeting the high expectations that consumers have come to expect from CraftCo brands, and how he managed Covid-driven supply chain challenges. Brands in this episode: Trader Joe's, Evolution Fresh, Pressed Juicery, Biena, The Good Crisp, Lesser Evil, Lemon Perfect, Spindrift, De Soi, Ghia, Kin Euphorics, Surely, Nooma, Coppercraft, Jos. A. Magnus, Fox & Oden

Guest: Dave Fabry, Ph.D. - Chief Hearing Health Officer at Starkey Dr. Fabry sits down with Dave this week to discuss: - His start as an aspiring Veterinarian, which ultimately exposed him to Audiology (training Chinchillas to "perform" an audiogram) - Dave's PhD, time at Walter Reed Army Medical Center, and Clinical Fellowship at The Mayo Clinic - The ACHIEVE study and Dave's big takeaways as both a clinician and researcher - The emerging use cases for biometric and acoustical data sets that are being captured and logged by Starkey's latest hearing aids - The evolution from machine learning-based applications to deep neural-net based applications for hearing aids - The case for why this is the most exciting time for Audiologists and Hearing Professionals broadly speaking, even with the existing and forthcoming challenges on the horizon - Career advice and words of wisdom from Dr. Fabry --- Send in a voice message: https://podcasters.spotify.com/pod/show/futureear/message

Candice Fabry is BACK on Wednesday Wisdom to help us close out the year and she shares some great advice on how to wrap up 2023 and make sure you get a Great start on 2024! This is The Educational AD Podcast! --- Send in a voice message: https://podcasters.spotify.com/pod/show/educational-ad-podcast/message Support this podcast: https://podcasters.spotify.com/pod/show/educational-ad-podcast/support

CardioNerds cofounder Dr. Amit Goyal and cardiology fellows from the Cleveland Clinic (Drs. Alejandro Duran Crane, Gary Parizher, and Simrat Kaur) discuss the following case: A 61-year-old man presented with symptoms of heart failure and left ventricular hypertrophy. He was given a diagnosis of obstructive hypertrophic cardiomyopathy. He eventually underwent septal myectomy, mitral valve replacement, aortic aneurysm repair, and aortic valve replacement with findings of Fabry's disease on surgical pathology. The case discussion focuses on the differential diagnosis for LVH and covers Fabry disease as an HCM mimic. Expert commentary was provided by Dr. Angelika Ewrin. The episode audio was edited by student Dr. Diane Masket. US Cardiology Review is now the official journal of CardioNerds! Submit your manuscript here. CardioNerds Case Reports PageCardioNerds Episode PageCardioNerds AcademyCardionerds Healy Honor Roll CardioNerds Journal ClubSubscribe to The Heartbeat Newsletter!Check out CardioNerds SWAG!Become a CardioNerds Patron! Case Media - An Unusual Cause of Hypertrophic Cardiomyopathy – Cleveland Clinic Pearls - An Unusual Cause of Hypertrophic Cardiomyopathy – Cleveland Clinic Left ventricular hypertrophy is a cardiac manifestation of several different systemic and cardiac processes, and its etiology should be clarified to avoid missed diagnosis and treatment opportunities. Fabry disease is a rare, X-linked inherited disease that can present cardiac and extra-cardiac manifestations, the former of which include hypertrophic cardiomyopathy, conduction defects, coronary artery disease, conduction abnormalities, arrhythmias, and heart failure.  The diagnosis of Fabry disease includes measurement of alpha-galactosidase enzyme activity as well as genetic testing to evaluate for pathogenic variants or variants of unknown significance in the GLA gene. Family members of patients diagnosed with Fabry disease should be screened based on the inheritance pattern.   Multimodality imaging can be helpful in the diagnosis of Fabry disease. Echocardiography can show left ventricular hypertrophy (LVH), reduced global strain, aortic and mitral valve thickening, and aortic root dilation with associated mild to moderate aortic regurgitation. Cardiac MRI can show hypertrophy of papillary muscles, mid-wall late gadolinium enhancement and low-native T1 signal.   The treatment of Fabry disease involves a multi-disciplinary approach with geneticists, nephrologists, cardiologists, nephrologists, and primary care doctors. Enzyme replacement therapy can delay the progression of cardiac disease.    Show Notes - An Unusual Cause of Hypertrophic Cardiomyopathy – Cleveland Clinic What are the causes of left ventricular hypertrophy? LVH is extremely common. It is present in 15-20% of the general population, and is more common in Black individuals, the elderly, obese or hypertensive individuals, with most cases being secondary to hypertension and aortic valve stenosis. In general terms, it is helpful to divide the causes of LVH into three main groups: high afterload states, obstruction to LV ejection, and intrinsic myocardial problems. Increased afterload states include both primary and secondary hypertension and renal artery stenosis. Mechanical obstruction includes aortic stenosis, subaortic stenosis, and coarctation of the aorta. Lastly, several intrinsic problems of the myocardium can cause LV hypertrophy, such as athletic heart with physiological LVH, hypertrophic cardiomyopathy with or without outflow obstruction, and infiltrative or storage diseases such as cardiac amyloidosis, Fabry's disease, or Danon disease, among others.  How does Fabry disease present? Fabry disease is present in all races and is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene that result in reduced alpha-galactosidase enzyme activity,

In today's episode, Reuben Saltzman and Tessa Murry are joined by Chad Fabry from StructureSmart. The discussion focuses on the unique challenges and characteristics of home inspections in Western New York, particularly in areas with historic homes dating back to the 1700s and 1800s. Chad Fabry shares his expertise in dealing with older houses, highlighting issues related to basements, and crawl spaces, and finishing these spaces. The importance of understanding building science and relying on reliable sources of information for home inspections is emphasized. Chad also discusses his role in teaching continuing education classes for home inspectors in New York. The conversation provides valuable insights for both home inspectors and homeowners dealing with older homes and regional differences in home inspections.

Fetal geneticist Dr. Tamar Goldwaser and OB-GYN Dr. Nathan Fox dive into the nuances of carrier screening and why people might hesitate to receive them. Although uncommon, secondary findings are possible and a parent might find something unexpected in their own DNA from a genetic test. Additionally, the results of a genetic test could lead to difficult decisions like whether to consider IVF or freezing your eggs. In this podcast, they discuss the implications and possible next steps to consider for diseases like Fragile X Syndrome, Fabry disease, hemophilia, Gaucher disease, and other genetic mutations.