Podcasts about Fabry

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.

Présentation Noam (Tle STD2A-B) 01:17 – Billet d’humeur sur le bac par Clémence (Tle ST2S-A), musique originale Sarah Hem, pastorale 02:49 – « Ruisseau » de Jacques Prévert par Laura (Tle ST2S-B), musique originale Sarah Hem 03:51 – Micro-trottoirs aux lycées : « C’est quoi, pour toi, la poésie ? » 07:17 – Interview de Marlène Tissot, romancière et poétesse valentinoise […]

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. Through this notice, the Academy and CheckRare CE grant permission of its use for educational purposes only. These materials may not be used, in whole or in part, for any commercial purposes without prior permission in writing from the copyright owner(s).

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

On this episode of Biotech Hangout, hosts Chris Garabedian, Daphne Zohar, Josh Schimmer, Tim Opler, Paul Matteis and special guest Allison DeAngelis kick off the show with a look at the renewed interest and recent funding in the neuropsychiatric disease space, including Seaport Therapeutics' $225 million Series B financing. This progresses into a comparison of diversified versus focused pipelines as Roivant CEO Matt Gline joins the stage as an impromptu guest to share his perspective on the benefits and challenges of the hub-and-spoke model. The group also discusses recent biotech market performance and how the statistics show that biotech is actually having a really good year. Turning to data, the hosts cover Alto Neurosciences' Phase 2 results and discuss the idea of precision psych and the use of biomarkers in clinical trials. The group also discusses Vertex's Phase 2 pain data and how Intellia's positive Phase 2 data in hereditary angioedema moved the stock in the surprisingly wrong direction. Other topics discussed include Sangamo's accelerated path for its Fabry gene therapy, Starboard takes on Pfizer, Alkermes and Roche earnings highlights, and more. *This episode aired on October 25, 2024.

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

Matt and Fabry react to Genoa's bad run of form and look at options Gila has to turn the campaign around.

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

Matt and Fabry recap Genoa's 2-2 draw against Inter and look forward to the weekend's match against Monza

We're back! Matt and Fabry break down Genoa's transfer market thus far and look ahead to the first match of the season against Inter.

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 episode of our series focused on Fabry disease, we feature Maya Kineen, a patient and advocate with this rare disorder.Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.

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.

This is the second of a three-part series focusing on Fabry disease. In this episode, we talk with Nicola Longo, MD, Chief of the Division of Medical Genetics at the University of Utah, Spencer Fox Eccles School of Medicine in Salt Lake City. Dr. Longo discusses Fabry disease, including the progression of the disease and personalized medicine.Fabry disease is an inherited disorder that results from the buildup of globotriaosylceramide or GL-3. The disorder affects many parts of the body. Signs and symptoms may include acroparesthesias, angiokeratomas, hypohidrosis, corneal opacity, and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.

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.

Ozlem Goker-Alpan, MD, Founder and President, LDRTC and David G. Warnock, MD. Professor of Medicine (Emeritus) at University of Alabama at Birmingham discuss best practices to identify and treat kidney problems associated with lysosomal disorders.This CME/CE activity describes the pathophysiologies and management options for lysosomal disease patients with kidney problems. This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees. To receive credit for this program, go to https://checkrare.com/learning/ Speakers Ozlem Goker-Alpan, MD, Founder and President, LDRTC David G. Warnock, MD. Professor of Medicine (Emeritus)University of Alabama at BirminghamDisclosuresAffinityCE staff, LDRTC staff, CheckRare staff, planners, and reviewers, have no relevant financial interests to disclose. All faculty disclosures are listed below and are included in the beginning of each presentation.Dr. Goker-Alpan is a consultant, a principal investigator and /or on the speaker bureau, or has received grant support, from the following pharmaceutical companies: Actelion, Amicus Therapeutics, Sanofi, Takeda, Pfizer/Protalix.Dr. Warnock has had research support and/or consulting arrangements with Genzyme Corporation (Sanofi), Shire LLC (Takeda), Amicus, Protalix and Chiesi, Zebra Bio, Walking Fish, Hanmi, and Vera Therapeutics.Mitigation of Relevant Financial RelationshipsAffinityCE adheres to the ACCME's Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer.Learning ObjectivesAt the end of this activity, participants should be able to:Describe the role of the nephrologist in the team approach to careDescribe best practices to monitor kidney function in lysosomal disordersDescribe best practices to treat kidney disorders lysosomal disordersSupport for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics and Chiesi USA.

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

We were joined by Will Fabry who is a Distiller for Coppercraft. He talked to us about what makes Coppercraft different, talked about their culture, and more. See omnystudio.com/listener for privacy information.

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,

When Jaime Jo Wright sits down with Author Chris Fabry, they get real about the loss and grief of the silent and long goodbye that comes with Alzheimer's. They also discuss Fabry's new release. In Saving Grayson, bestselling and award-winning author Chris Fabry takes us into a world of love and loss, dementia and startling clarity, hope and despair. We shake our heads (and sometimes laugh) at Gray's crusty antics. We share his fear of what's to come. And we root for him and those who love him to find answers before the words become a distant memory.

Welcome back to the Golden Ticket! In this episode... Jimmy, Reese, and Isaiah are joined by University of Notre Dame pole vaulter Olivia Fabry, who has also grown a large following on social media. We were able to talk to her about how she deals with the attention on and off the track, and how it has changed her life. Thank you all for listening. Enjoy! We are proud to provide you with your... GOLDEN TICKET

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.

Commentary by Dr. Valentin Fuster

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.