Podcasts about Gaucher

Protalix BioTherapeutics CEO Dror Bashan recently detailed the company's vision for 2025, highlighting advancements in its proprietary ProCellEx platform and its commitment to addressing unmet medical needs. Protalix specializes in producing complex human proteins using plant cell technology, focusing on therapies for Fabry and Gaucher diseases while exploring new opportunities in other therapeutic areas. A key achievement in 2024 was the successful completion of a Phase 1 clinical trial for the company's treatment candidate for gout. Positive trial results have set the stage for a Phase 2 study, scheduled to begin in mid-2025. Bashan also emphasized Protalix's robust financial position, with the company becoming debt-free as of September 2024—a milestone that supports ongoing operations, clinical trials, and pipeline expansion. Protalix is also actively working to extend the reach of Elfabrio, its FDA-approved therapy for Fabry disease. Additionally, the company is leveraging its innovative platform to explore next-generation solutions in renal and other therapeutic areas, aiming to broaden its impact on patient care. Looking ahead, Protalix plans to focus on addressing unmet needs in renal therapies while continuing to build on the success of its current treatments. With a strong financial foundation and a dedication to innovation, the company is well-positioned for transformative growth in 2025 and beyond.

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.

Joining Jill and Doron on the 34th episode of the podcast, the sixteenth of our second season, to tell us his story is esteemed British scientist Professor Raymond Dwek, who attended Carmel College from 1949 to ‘60, accompanied by his older brother Joe.  Both brothers would go on to become governors of Carmel. Raymond studied Chemistry at Manchester University and completed his DPhil at Oxford University.  During this time, both Raymond and his wife Sandra also taught at Carmel.  He became Professor of Glycobiology, a field he was instrumental in creating, in the Department of Biochemistry at Oxford, which he headed for several years.  He is an emeritus fellow of Exeter College at Oxford and emeritus director of the Oxford Glycobiology Institute, which he founded.  The institute gave rise to a company that became publicly listed and developed a drug - eventually approved worldwide - for Gaucher disease, a rare, genetic metabolic disorder with a much enhanced incidence among Ashkenazi Jews.  A second company that arose from the institute was taken over by United Therapeutics, a $15 billion NASDAQ-listed US biotech company, of which Raymond is a Director.  He has authored several scientific volumes and over 600 published papers, has formally advised scientific institutions in Israel, the United States and China, was appointed Commander of the Order of the British Empire for services to scientific collaboration between the United Kingdom and Israel, and was elected a Fellow of the Royal Society.  He and Sandra live in Oxford, and have four children, including a daughter, Deborah, who also attended Carmel. Hear Raymond talk about the Dwek dynasty, an unexpected guest at a midnight feast, the best teacher he ever knew, his brother Joe's ‘special diet', building Ben Gurion University from a camel market, his CBE award by Princess Anne, and the secret to a long and happy marriage. Thank you, Professor Raymond Dwek, for turning us again to Carmel days!   Dedication: at Raymond's request, this episode is dedicated to his daughter Deborah, his brother Joe, and Joe's son Jonathan, all of whom went to Carmel, along with all the other members of the Dwek family that did so too.    Personal mentions in this episode: Rabbi Dr. Kopul Rosen (Headmaster) Bella Rosen (Co-founder) Rabbi Jeremy Rosen (Headmaster) Romney Coles (Chemistry) Dr. David Stamler (Headmaster) John Bunney (Physics) Ron Evans (Mathematics) Murray Roston (English & Hebrew) Ted Fields (Rowing) Malcolm Shifrin (Librarian) Dr. Alexander Tobias (Jewish Studies) Meir Gertner (Jewish Studies) Philip Skelker (Headmaster) Joe Dwek Deborah Dwek David Sheldon Jerrold Roston Jonathan Dwek   Feel free to leave a comment letting us know what you liked about this episode, and rate us on your favorite podcast platform

Cours Halakha Time du Mardi 3 Décembre 2024 (durée : 6 minutes) donné par Rav Emmanuel BENSIMON.

Cours Halakha Time du Mardi 3 Décembre 2024 (durée : 6 minutes) donné par Rav Emmanuel BENSIMON.

Meet Andrew Gaucher, a Kelowna Real Estate Developer with vast real estate holdings and development projects including McKinley Beach. Sign up for addy - https://addyinvest.ca/ McKinley Beach - https://www.mckinleybeach.ca/ Andrew Gaucher - https://www.linkedin.com/in/andrew-gaucher-94307a8/ 2429 Ethel Street, Kelowna, BC (map) Disclaimer Purchasing investments made accessible through addy will unless otherwise indicated be conducted by by registered dealers (including, in the case of exempt market products, exempt market dealers), registered or exempt funding portals or directly by issuers of securities. The information provided on addy's website, webinars, blog, emails and accompanying material is for informational purposes only. It does not constitute or form any part of any offer or invitation or other solicitation or recommendation to purchase any securities. It should not be considered financial or professional advice. You should consult with a professional to determine what may be best for your individual needs. Forward-Looking Statements Some information contains certain forward-looking information and forward-looking statements within the meaning of applicable securities legislation (collectively "forward-looking statements"). The use of the words "intention", "will", "may", "can", and similar expressions are intended to identify forward-looking statements. Although addy believes that the expectations reflected in such forward-looking statements and/or information are reasonable, undue reliance should not be placed on forward-looking statements since addy can give no assurance that such expectations will prove to be correct. These statements involve known and unknown risks, uncertainties and other factors that may cause actual results or events to differ materially from those anticipated in such forward-looking statements. Furthermore, the forward-looking statements contained in this news release are made as at the date of this news release and addy does not undertake any obligations to publicly update and/or revise any of the included forward-looking statements, whether as a result of additional information, future events and/or otherwise, except as may be required by applicable securities laws.

Today, gene therapy is at an exciting inflection point as the industry moves beyond the first generation of these therapies. However, challenges and barriers remain in bringing gene therapies to market, particularly as they expand into more prevalent diseases. Spur Therapeutics is a clinical-stage biotech company dedicated to developing next generation gene therapies for people living with chronic, debilitating diseases. Its lead candidate, FLT201, is an AAV gene therapy for Gaucher disease that is poised to enter phase 3 development in 2025.This week, we have a conversation with Michael Parini, CEO of Spur Therapeutics, about the future of gene therapy.01:56-04:01: About Spur Therapeutics04:01-06:49: Where is the gene therapy field at currently?06:49-10:44: The biggest challenges for gene therapies, and potential solutions10:44-13:21: What is the next generation of gene therapy?13:21-18:08: How can gene therapy be used to take on more diseases? How can it be cheaper?18:08-19:14: Are other companies working on next-generation gene therapies?19:14-21:07: What is Gaucher disease?21:07-22:32: How are you tackling Gaucher disease?22:32-26:07: What is the measure of success?26:07-28:18: About adrenomyeloneuropathy28:18-29:32: Upcoming approvals in gene therapy29:32-31:40: How quickly is gene therapy evolving?This podcast is sponsored by Vetter, a globally leading CDMO, with over 70 years of experience as a responsible, independent family business. Driven by more than 6,600 employees worldwide, Vetter provides life-saving injectable drug products to the patients that rely on them most. Vetter partners with its customers throughout the entire product lifecycle, starting in the early phase of drug development with comprehensive expertise and support in clinical manufacturing for in-human trial material. For more information, visit vetter-pharma.comInterested in being a sponsor of an episode of our podcast? Discover how you can get involved here! Stay updated by subscribing to our newsletter

On tonight's Medical Matters, we are focusing on rare condition that many might not be familiar with, that is Gaucher disease. This genetic disorder affects how the body breaks down certain fatty substances, leading to various health complications. While it's rare, understanding it is crucial for those affected and their families. We'll dive into what Gaucher disease is, how it's diagnosed, and the importance of raising awareness for rare diseases like this. Joining for me this discussion is Prof Barry Jacobson, Head of Rare Disease Unit, CMJH Hospital, department of Haematology and internal medicine, Wits University and NHLS.See omnystudio.com/listener for privacy information.

Originally presented at the SSIEM 2023 Annual Symposium, Dr Ozlem Goker-Alpan discusses neuronopathic gaucher disease, regional variations and hopes for new treatments. Neuronopathic Gaucher disease: Rare in the West, common in the East Ozlem Goker-Alpan, Margarita M. Ivanova https://doi.org/10.1002/jimd.12749

Episode 15: Unwavering Commitment and Creative Innovation with DanielleIn this episode of the Dystopian Rebel Podcast, we sit down with Danielle, a dynamic business owner, and trailblazer in small business marketing. Danielle shares her journey and offers insights into her innovative marketing strategies that have empowered numerous small businesses to succeed in a competitive landscape.Key Topics Discussed:Introduction to Danielle's Business Journey:How Danielle became a successful business owner.Her role as a pioneering force in small business marketing.Creative Endeavors:Danielle's current project: writing a children's book with strong and impactful messages.The creative process and inspiration behind her book.Personal Health Journey:Danielle's childhood struggles with health and illness.Her lifelong journey with Gaucher's Disease.How her health challenges shaped her resilience and determination.Unwavering Commitment:Danielle's commitment to herself and her goals.The power of her decision-making in both personal and professional aspects.Business Insights:Practical advice and insights from Danielle's experience in small business marketing.Lessons learned from her entrepreneurial journey.Closing Thoughts:In this compelling episode, Danielle's story highlights the power of resilience, creativity, and strategic thinking. Her journey with Gaucher's Disease and her success in business and creative projects serve as an inspiration to all. Don't miss out on learning from the pro herself on episode 15 of the Dystopian Rebel Podcast.Tune in to hear Danielle's incredible story and gain valuable insights for your own journey!You can learn more about Danielle and her services @mainst_bizstrategies, and on her website at https://www.mainstreetsmb.com/You can learn more and donate to the Gaucher's Foundation at https://www.gaucherdisease.org/about-gaucher-disease/Hosted by Ausha. See ausha.co/privacy-policy for more information.

Se cumplen 30 años del primer tratamiento para la enfermedad de Gaucher en España: "Yo creí que me moría" "Lo peor de tener una enfermedad rara es la incertidumbre. Es tener unos dolores tremendos y no saber qué te pasa. Es creer que te vas a morir en cualquier momento", ha dicho Lucía Badía en el 30 aniversario del primer tratamiento en España para su patología: la enfermedad de Gaucher. Ésta es una afección hereditaria poco frecuente que provoca el déficit de una enzima denominada glucocerebrosidasa, cuya carencia causa la acumulación de grasas en algunos órganos, como el bazo, el hígado, los pulmones o los huesos. . Hablamos con Cristina Villalba, paciente y vocal de la asociación española de enfermos y familiares de la enfermedad de Gaucher. .. | @lossilenciosdeelan linktr.ee/lossilenciosdeelan | | Los Silencios de Ëlan es un programa radiofónico hecho podcast en el que intentamos ser un micro abierto de voluntarios,asalariados, fundaciones, ong's y asociaciones que luchan por hacer de este mundo raro y loco, un lugar más humano y personal. Programa que forma parte de la xarxa d ‘ emisores municipals valencianes. Puedes escucharnos en las principales plataformas de streaming al igual que todos los miércoles a las 12 en la radio online de Paterna @turia.78radio , los viernes de 12 a 13 en @radiogodella, viernes de 23 a 24 en @radioribaroja Los lunes de 17 a 18 en @radio_manises . Los miércoles de 16:30 a 17:30 en @laradiomalva en la 104,9 de la FM en Valencia Si te apetece colaborar o participar con nosotros puedes escribirnos a lossilenciosdeelan@gmail.com y seguirnos en nuestras redes sociales @lossilenciosdeelan . ¿Me compartes para llegar a más gente? . Puedes escuchar los últimos programas en > https://linktr.ee/lossilenciosdeelan ☺ #podcast #voluntariado #ayudaresposible #autismo #bulimia #paterna #manises #valencia #valencianes #tdh #radio #crianza #entrevista #altavozsocial #ellocoequilibrista #spotify #applepodcasts #deezerpodcast #feder #EnfermedadesRaras #enfermedadesultrararas #tumor #cancer #cancerinfantil #anorexia #psicologa #asociacion #acosoescolar #gaucher

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.

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.

Pour écouter l'épisode, je m'abonne à Coparena : https://m.audiomeans.fr/s/S-ufMgTDRZ Encore remplaçant à Cagliari, Adam Obert pourrait profiter de l'Euro pour changer de statut sur la scène continentale. Titulaire lors des deux rencontres amicales disputées par la Slovaquie en mars, le défenseur central y a marqué des points et pourrait être reconduit en juin. De quoi lancer une carrière ?

Hey Hey salut tout le monde!! Cette semaine, je suis avec Pierre-Olivier Gaucher de l'entreprises Terralis Agroécologie et Christian Goulet, gérant de la Ferme R.B.M. pour venir me jaser de leurs expériences en matière de agroécologie sur la ferme que Christian gère mais aussi sur les multiples entreprises où Pierre-Olivier vient en aide aux producteurs à faire la transition. Pour visiter la page web de Terralis Agroécologie: https://terralis.ca/ Ce podcast est une présentation de Agrilog! Visitez le site web de Agrilog: https://www.agrilog.ca/ Allez liker la page Facebook des Podcasts Agricoles ⁠⁠⁠⁠⁠⁠⁠https://www.facebook.com/PodcastsAgricolesQuebec⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Pour me rejoindre, écrivez moi à ⁠⁠⁠⁠⁠⁠⁠PodcastsAgricoles@gmail.com⁠⁠⁠⁠⁠⁠⁠ Abonnez vous également a ma page Patreon, ⁠⁠⁠⁠⁠⁠⁠https://www.patreon.com/PodcastsAgricoles⁠⁠⁠⁠⁠⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Ou encore, téléchargez l'application Patreon sur votre téléphone à poche. Pour écoutez The Backslash Band, créateur de tous les jingles des Podcasts Agricoles, sur Spotify ⁠⁠⁠⁠⁠⁠⁠https://open.spotify.com/artist/1uYTEtwtDU6RGsM5PvLRdM?si=PrlN49fXRImSUP2_n9lw8A⁠⁠⁠⁠⁠⁠⁠ Bonne Écoute!! --- Send in a voice message: https://podcasters.spotify.com/pod/show/podcastsagricoles/message

durée : 00:43:06 - Grand Canal - par : Eva Bester - Le chef d'orchestre Raphaël Pichon dirige en ce moment le spectacle "L'Autre Voyage" mis en scène par Silvia Costa, à l'Opéra Comique de Paris puis à l'Opéra de Dijon. Gaucher mais adroit, Pichon nous guide dans les mélodies de Schubert et dans l'histoire d'un médecin avec la mort pour fil rouge. - invités : Raphaël Pichon - Raphaël Pichon : Chef d'orchestre français (Paris, 1984 - ) - réalisé par : Lola COSTANTINI

Presque 90% des humains se servent de leur main droite pour écrire, et 10% de leur main gauche. Seul un très petit pourcentage est capable d'écrire indifféremment avec l'une ou l'autre main. Mais cette latéralité souvent très marquée s'applique-t-elle de la même façon aux membres inférieurs ?Compréhension de la latéralitéLe terme de latéralité désigne la tendance d'un individu à favoriser un côté de son corps pour les actions quotidiennes. Elle concerne bien sûr les mains, mais aussi d'autres parties de l'organisme comme les pieds, les yeux et les oreilles. Les préférences entre la droite ou la gauche s'étendent généralement à l'intégralité du corps. Par exemple, une personne qui écrit de la main droite préfèrera souvent taper dans un ballon avec son pied droit. Une personne gauchère sera plus à l'aise pour manipuler des objets ou faire du sport en comptant sur sa main et son pied gauche. Quelques rares individus, de façon naturelle ou avec de l'entrainement, utilisent leurs membres avec la même facilité d'un côté ou de l'autre.La dominance croiséeLa dominance croisée se produit lorsque la main préférée ne correspond pas au pied préféré. Un gaucher qui tient mieux en équilibre sur son pied droit ou un droitier capable de sauter plus haut avec sa jambe gauche expriment cette caractéristique unique.Dans de nombreux sports, la dominance croisée influence la manière dont le joueur interagit. L'approche du jeu et de la technique doivent être modulées pour permettre à l'individu d'exploiter au mieux ses capacités. En surf et en skateboard, par exemple, la préférence de pied influence la position sur la planche. En cas de dominance croisée, le sportif doit adopter une posture hybride.Les musiciens sont aussi concernés par les conséquences de cette caractéristique. Un guitariste droitier de la main et gaucher du pied devra ainsi adapter la position de sa pédale d'effet pour pouvoir gérer au mieux la prestation scénique.Souvent, les individus avec une dominance croisée développent des stratégies créatives pour s'adapter à un monde principalement conçu pour les droitiers exclusifs. Cela se manifeste dans l'aménagement de l'espace de travail, dans le développement de techniques artistiques uniques, ou dans le choix de matériel personnalisable.Ce qui produit la dominance croiséeCe phénomène dispose d'une composante génétique. La latéralité est effectivement influencée par des facteurs héréditaires. Le cerveau joue aussi un rôle crucial dans la détermination des préférences de côtés. La dominance d'un hémisphère sur l'autre pour certaines tâches peut alors influencer les choix manuels ou pédestres.L'environnement dans lequel l'enfant grandit et les expériences subies influencent considérablement la latéralité. En fonction des jouets et outils utilisés, des activités physiques pratiquées et des interactions avec les adultes, l'enfant va développer certaines préférences lors de la manipulation d'objets.Enfin, l'éducation peut également favoriser l'usage de la main droite chez un enfant gaucher, qui conservera alors ses préférences au niveau des pieds tout en ayant appris à écrire comme un droitier. Hébergé par Acast. Visitez acast.com/privacy pour plus d'informations.

- Invité : Bernard Minier publie "Les Effacées" (XO), la deuxième enquête de sa nouvelle héroïne, Lucia Guerrero, flic d'élite à la Guardia Civil espagnol. -Le coup de coeur du libraire : "Le Rouge et le Blanc" d'Harold Cobert (Les Escales) par Françoise Gaucher de la librairie Le Coin des Livres à Davézieux (07).

Angel Di Maria brille au Benfica Lisbonne, le club de ses débuts européens, avant, certainement, de rentrer en Argentine. Gaucher époustouflant, passeur décisif  d'exception, le « Fideo » a enchanté l'Europe pendant plus d'une décennie, à Madrid et Paris notamment. Avec l'Argentine, il restera comme l'homme des grands matches, lieutenant indispensable de Leo Messi. Un podcast animé par Marie-Amélie Motte, avec José Barroso, Régis Dupont et Dave Appadoo. Réalisation : Léa Leostic.

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.

French horse racing form expert Adam Mills joins Emmet Kennedy to discuss the most intriguing French-bred contenders for the Cheltenham Festival. In this episode, Adam shares his expert in-depth views on Sir Gino, Kargese, Jade de Grugy, Mister Policeman, Daddy Long Legs, Anotherway, Mistergif, Jimmy Du Seuil, Supersundae, Gaucher, and Ocastle des Mottes. Watch now and hop on board the Gravy Train! Follow Adam on Twitter @GeeGeeBanker. Venatour Racing Social: If your planning a racing trip to Europe or further afield, check out Venatour Racing Social for a large range of bespoke racing holidays at Venatour.co.uk Form Tools: Proform is the essential tool for punters looking to make money from betting on Horse Racing. Our form book covers Jumps and Flat racing in the UK and Ireland. https://www.proformracing.com/ Twitter: @FinalFurlongPod Email: radioemmet@gmail.com In association with Adelicious Podcast Network. Hosted on Megaphone.  Follow us for free on Spotify Podcasts https://open.spotify.com/show/3e6NnBkr7MBstVx5U7lpld Learn more about your ad choices. Visit podcastchoices.com/adchoices

durée : 00:49:44 - Grand Canal - par : Eva Bester - Le chef d'orchestre Raphaël Pichon dirige en ce moment le spectacle "L'Autre Voyage" mis en scène par Silvia Costa, à l'Opéra Comique de Paris puis à l'Opéra de Dijon. Gaucher mais adroit, Pichon nous guide dans les mélodies de Schubert et dans l'histoire d'un médecin avec la mort pour fil rouge.

In this episode, we review the high-yield topic of ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Gaucher Disease⁠⁠⁠⁠ from the Pediatrics section. Follow ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Medbullets⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets Linkedin: https://www.linkedin.com/company/medbullets

What is the rare Gaucher disease and how does it impact patients, families, and life sciences? Is enough emphasis being placed on research and discovery for rare diseases? And what are the patient-centered approaches that best serve those battling rare diseases? We will get those answers and more in this episode with Tanya Collin-Histed, CEO of the International Gaucher Alliance. Tanya has been a longtime driving force in supporting patients with rare diseases and advocating for world-class healthcare. Her work has been nothing short of groundbreaking and she's become the go-to person for patients, medical practitioners, industry, and governing bodies. As a mother of a child with Gaucher disease, she brings a unique, first-hand, and compassionate approach.  

3% de golfeurs gaucher pour 13% de gauchers… oú est l'erreur !? . . Les formations en ligne : https://r1golfpro.podia.com . . Le Carnet de performance : https://r1golfpro.podia.com/carnet-de-performance . . Pour m'offrir un café : https://www.buymeacoffee.com/r1golfpro . Instagram : @r1golfpro . Site web : https://r1-golfpro.com

Est-ce que c'est vrai que les droitiers vivent plus longtemps que les gauchers ? Nous savons que les droitiers sont plus nombreux que les gauchers. De ce fait, les gauchers sont victimes de nombreuses idées reçues. Seraient-ils désavantagés sur leur longévité également ? Vous en saurez plus, dans ce nouvel épisode de Science ou Fiction.

Kim Smith-Gaucher, the SWNT LEGEND and 3 time Olympian for Canada Basketball, pulls up on Canada Hoops! Kim sits down with Matty to share her basketball story. Kim tells us how the Womens' 3X3 team for Canada Basketball is training right now, their approach to qualifying for the Paris Olympics and how Kim herself is enjoying her coaching role with the group. Kim takes us back to growing up in Mission, British, Columbia, where he fell in love with basketball. Kim talks about looking up to her sister Michelle and her basketball career and tells us about her first experience with the SWNT. Kim talks about her legendary career at Heritage Park which would cement her as one of the best basketball players out of BC period. Kim tells Matty about her NCAA recruiting experience before she would ultimately choose to attend and play at the University of Utah. Kim had a tremendous career as a Ute and she would become the first woman to have her jersey number retired at Utah. Kim tells Matty about turning pro and how she got drafted into the WNBA. Kim would have a stellar professional career and spoke fondly of her time as a pro hooper, especially playing in France. And you know we get into the Canada Basketball side with Kim. Kim talks about playing for the SWNT, what it meant to her and her family to play for Canada, her Olympic experiences, incredible teammates and National teams. Kim tells us what she enjoys about the current SWNT leading Kim to drop a great Top 5 of all time for Canada Basketball on us; where she pays respects to some of the all time greats for the Program. Much love to the SWNT ICON Kim Smith-Gaucher for joining us on Canada Hoops Podcast!Hit us up on Twitter: @canadahoopspod @TheMattyIrelandHit us up on Instagram: @canadahoopspodcastEmail: canadahoopspodcast@gmail.comhttps://canadahoopspodcast.buzzsprout.com/

This CME/CE activity describes the pathophysiologies and management options for lysosomal disease patients with cardiomyopathies. 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/p-ldrtc2022-webinar2-managing-cardiomyopathies-in-lysosomal-disorders/SpeakersOzlem Goker-Alpan, MD, Founder and President, LDRTCJohn Jefferies, MD, Governor, American College Cardiology, Tennessee Chapter President, American Heart Association, Mid-South Chapter Research Member, St. Jude Children's Research Hospital Team Cardiologist, Memphis Grizzlies .Learning ObjectivesAt the end of this activity, participants should be able to:Describe the role of the cardiologist in the team approach to careDescribe best practices to monitor cardiac symptoms in lysosomal disordersDescribe best practices to treat cardiac symptoms in lysosomal disordersSupport for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics and Chiesi USA.

Protein misfolding is an underlying issue for many diseases, including lysosomal storage disorders and some neurodegenerative conditions. When a protein misfolds, its three-dimensional structure is disrupted, and it can no longer function properly. Gain Therapeutics is using its AI-driven discovery platform to identify novel targets to fuel a pipeline of therapies that focus on enzymes involved in rare genetic diseases, but that also share genetic profiles with more prevalent ones. We spoke to Matthias Alder, CEO of Gain Therapeutics, about the role protein misfolding plays in a range of diseases, Gain's platform technology, and its lead experimental therapy in development to treat Gaucher disease.

蕭彤雯 主持 生活同樂會

Episode 14: In this episode Naturopathic doctor Michelle Gaucher (@drmichelle.nd) talks to us about her 5 foundations of health. Curious what they may be? I invite you to join us in this episode to unlock Dr. Gaucher's 5 foundations. May this podcast and all of its episodes be of most benefit to you: the listeners. Enjoy!

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. SpeakersOzlem Goker-Alpan, MD Founder and President, Lysosomal & Rare Disorders Research & Treatment Center (LDRTC)Al-Hertani, MD, Director of the BCH Metabolism and Lysosomal Programs, Boston Children's Hospita; lAssociate Professor of Pediatrics, Harvard Medical SchoolLearning ObjectivesAt the end of this activity, participants should be able to:Describe the need for a team approach to careDescribe best practices to build a multidisciplinary team for a new patientDescribe best practices to maintain a multidisciplinary teamSupport for this educational activity was provided by Takeda, Sanofi, Amicus Therapeutics, and Chiesi USA.To earn credit for this CME, go to https://checkrare.com/learning/p-building-and-maintaining-a-multidisciplinary-team-for-lysosomal-disorders/

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.

This weeks Part 2 is all about those little intricacies in songwriting that give you an amazing and emotional reaction to what the writer us trying to get across… Listen out for brand new tunes by The Men From Another World, Saint Martyn, Cosmic Bos, Klubber Lang, Landlubber, Flakebelly, Dragon Welding, Disco In Sochi, Gaucher & Ruin, One Blind Mouse, Death Of The High Street, Wednesday, 22 Oceans, Amelie Lucile, Isadora Eden, and Elba Rose. For all the latest check out www.newmusicsaturday.com  --- Send in a voice message: https://podcasters.spotify.com/pod/show/newmusicsaturday/message

As the Memorial Cup begins this weekend in the Canadian Hockey League, Alexis Downie shares the excitement for the two Anaheim Ducks prospects who will be taking part. Defenseman Olen Zellweger joined the show to talk about how his team in the Kamloops Blazers is preparing to host the tournament, his standout WHL season and more (4:00). Not long after, center Nathan Gaucher of the Quebec Remparts spoke with Downie on winning the QMJHL Championship, how his leadership role has expanded this season and his hopes for the tournament (16:56).

Chaque semaine, Florent Serra vous propose ses conseils à travers la rubrique "Le Conseil de Flo". Pour ce douzième épisode, Florent vous donne des tips pour réussir à jouer contre la bête noire de beaucoup de joueurs : les gauchers ! 

#BBA2023 kid Hudson has faced many hardships as a 5 year old diagnosed with Gaucher's Disease 2. We are so grateful to have shared this Bert's Big Adventure experience with him and his family! Learn more about your ad choices. Visit megaphone.fm/adchoices

Wholly Veggie co-founders John Bonnell and David Gaucher knew their brand of plant-based frozen foods needed a new look. But when they saw the design firm's proposed revamp, it was such a departure from the original version that it made them apprehensive and uncomfortable. And, as they told us, that's why it worked. Wholly Veggie, which debuted in its home market of Canada in 2017, now offers a range of vegan frozen entrees and snacks, including Thai curry, cauliflower wings and mozzarella-style sticks. Bonnell and Gaucher envisioned the brand as one that could attract interest and democratize access to plant-based foods via familiar flavors and dishes. In 2020, Target began carrying Wholly Veggie at all of its U.S. stores and the brand seemed on its way to becoming a household name. Nevertheless, Bonnell and Gaucher sensed that it could just as easily turn into an also-ran in an increasingly saturated market for plant-based frozen meals. Wholly Veggie had to be bold, differentiated and, most importantly, stand for something beyond the food itself. In its fun, energetic and bright redesign, Wholly Veggie has been embraced by existing and new retailers. The brand is carried by 6,500 stores across the U.S. and Canada, including Walmart, Whole Foods, Sprouts, Fresh Thyme, Wegmans, Sobeys and Loblaws. In this episode, Bonnell and Gaucher spoke about their process for creating a plant-based brand with broad appeal, their realization that Wholly Veggie's package design needed an overhaul, how a comprehensive brand brief enabled them to better understand their products' value to retailers and consumers, and the impact of the brand revamp. They also discussed their adherence to business fundamentals, a challenging environment for private capital and how the most commonly consumed ingredients factor into their innovation strategy. Show notes: 0:45: John Bonnell & David Gaucher, Co-Founders, Wholly Veggie – Bonnell and Gaucher met with Taste Radio editor Ray Latif at BevNET headquarters where the entrepreneurs chatted about traveling from Toronto to Boston and local store visits before they discussed Wholly Veggie's most recent – and hilarious – ad campaign. They also spoke about their respective backgrounds and the brand's origins, why the brand name was the only thing not on the table during the revamp process, how they evaluate taste as compared to other plant-based products and how fun and laughter supports their primary goal of championing vegetables. Later, they discussed early mistakes and what they learned from each, their warning that “the route to market is filled with booby traps” and how conversations with investors have changed over the years.  Brands in this episode: Wholly Veggie, Green Giant, Birds Eye

This CME/CE activity, hosted by Ozlem Goker-Alpan, MD, Co-founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and guest lecturer, Oral Alpan, MD, of Amerimmune in McLean, VA, provides an overview of our current understanding of the immune system in the pathophysiology and management of lysosomal disorders. At the end of this activity, participants should be able to: Describe how the immune system is involved in Lysosomal Storage Disorders.Review the pathophysiology of immune response reactions. Describe how to better manage patients with immune response reactions.Describe the best clinical practices to monitor the patients with immune response reactions.Educational Support for this activity was provided by Takeda, Sanofi, and Chiesi. To obtain CME credit, please visit https://checkrare.com/learning-center/courses/

$5 Q-BANK: https://www.patreon.com/highyieldfamilymedicine Intro 0:30, Galactosemia 1:36, Hereditary fructose intolerance 3:37, Essential fructosuria 4:21, Glycogen storage diseases 4:43, Period Acid Schiff and Diastase test (PAS-D) 5:57, Von Gierke disease 5:13, Pompe disease 6:33, Cori disease 7:41, Andersen disease 8:16, McArdle disease 8:56, Phenylketonuria 11:05, Alkaptonuria 12:56, Maple syrup urine disease 14:14, Homocystinuria 15:56, Urea cycle disorders 17:35, Fatty acid metabolism disorders 19:09, Lysosomal storage diseases 20:25, Tay-Sachs disease 20:53, Niemann-Pick disease 22:02, Gaucher disease 22:39, Metachromatic leukodystrophy 23:34, Krabbe disease 24:36, Hurler disease and Hunter disease 25:36 Fabry disease 26:28, Lesch-Nyhan syndrome 27:26, Adenosine deaminase deficiency 28:15, Practice questions 28:42

Advances in medicine have made possible better treatments for widespread, familiar human illnesses like cancer, diabetes, and heart disease. Yet there are thousands of much less common diseases, most of genetic origin, each classed as rare because it afflicts only a small number of people. These patient groups were long ignored by a pharmaceutical industry that judged them too small to provide a return on the investment needed to develop an effective remedy. Yet these orphaned diseases collectively caused misery and expense, often far greater than did more common ailments, for tens of millions of individuals and their families. Forty years ago, a revolution that transformed the prospects of patients with rare diseases was lit by three sparks. The passage of the 1983 U.S. Orphan Drug Act resulted from public pressure brought by rare disease patients, their families, and advocates. The AIDS epidemic triggered additional activism, compounded when patients with the rare disease hemophilia became HIV-positive after infusion of tainted blood products. And the third spark was the emergence in the early 1980s of biotechnology companies like Genentech, Amgen, and Biogen employing then-new genetic engineering instead of conventional approaches to pharmaceutical development. Soon after, Genzyme became the first company to develop a treatment for a rare genetic disorder, Gaucher disease, which would come to transform the industry. Jim Geraghty has been a passionate participant in the orphan drug revolution since its inception--a leader in the field as a strategy consultant, biotechnology executive, and venture entrepreneur. Inside the Orphan Drug Revolution: The Promise of Patient-Centered Biotechnology (Cold Springs Harbor Lab Press, 2022) is in part a history, with eyewitness accounts of advances as they occurred and portraits of the pioneering scientists and physicians, tireless activists, and visionary business leaders who made the revolution happen. And it tells deeply personal stories of patients and parents willing to risk new, untried therapies. But Geraghty also uses his exceptional experience and vantage point to look forward to the immense promise of the newest technologies like gene therapy and gene editing for the treatment of patients today and tomorrow. He concludes with thoughtful consideration of important questions. Why do drugs to treat orphan diseases cost so much? How can we ensure they are affordable? How can their effectiveness be responsibly assessed? And how can access to them be expanded internationally? This book graphically and poignantly illustrates how far an important healthcare revolution has come and reminds us that if not nurtured, it could end before its immense promise has been fulfilled. Learn more about your ad choices. Visit megaphone.fm/adchoices Support our show by becoming a premium member! https://newbooksnetwork.supportingcast.fm/new-books-network

Advances in medicine have made possible better treatments for widespread, familiar human illnesses like cancer, diabetes, and heart disease. Yet there are thousands of much less common diseases, most of genetic origin, each classed as rare because it afflicts only a small number of people. These patient groups were long ignored by a pharmaceutical industry that judged them too small to provide a return on the investment needed to develop an effective remedy. Yet these orphaned diseases collectively caused misery and expense, often far greater than did more common ailments, for tens of millions of individuals and their families. Forty years ago, a revolution that transformed the prospects of patients with rare diseases was lit by three sparks. The passage of the 1983 U.S. Orphan Drug Act resulted from public pressure brought by rare disease patients, their families, and advocates. The AIDS epidemic triggered additional activism, compounded when patients with the rare disease hemophilia became HIV-positive after infusion of tainted blood products. And the third spark was the emergence in the early 1980s of biotechnology companies like Genentech, Amgen, and Biogen employing then-new genetic engineering instead of conventional approaches to pharmaceutical development. Soon after, Genzyme became the first company to develop a treatment for a rare genetic disorder, Gaucher disease, which would come to transform the industry. Jim Geraghty has been a passionate participant in the orphan drug revolution since its inception--a leader in the field as a strategy consultant, biotechnology executive, and venture entrepreneur. Inside the Orphan Drug Revolution: The Promise of Patient-Centered Biotechnology (Cold Springs Harbor Lab Press, 2022) is in part a history, with eyewitness accounts of advances as they occurred and portraits of the pioneering scientists and physicians, tireless activists, and visionary business leaders who made the revolution happen. And it tells deeply personal stories of patients and parents willing to risk new, untried therapies. But Geraghty also uses his exceptional experience and vantage point to look forward to the immense promise of the newest technologies like gene therapy and gene editing for the treatment of patients today and tomorrow. He concludes with thoughtful consideration of important questions. Why do drugs to treat orphan diseases cost so much? How can we ensure they are affordable? How can their effectiveness be responsibly assessed? And how can access to them be expanded internationally? This book graphically and poignantly illustrates how far an important healthcare revolution has come and reminds us that if not nurtured, it could end before its immense promise has been fulfilled. Learn more about your ad choices. Visit megaphone.fm/adchoices Support our show by becoming a premium member! https://newbooksnetwork.supportingcast.fm/medicine

Advances in medicine have made possible better treatments for widespread, familiar human illnesses like cancer, diabetes, and heart disease. Yet there are thousands of much less common diseases, most of genetic origin, each classed as rare because it afflicts only a small number of people. These patient groups were long ignored by a pharmaceutical industry that judged them too small to provide a return on the investment needed to develop an effective remedy. Yet these orphaned diseases collectively caused misery and expense, often far greater than did more common ailments, for tens of millions of individuals and their families. Forty years ago, a revolution that transformed the prospects of patients with rare diseases was lit by three sparks. The passage of the 1983 U.S. Orphan Drug Act resulted from public pressure brought by rare disease patients, their families, and advocates. The AIDS epidemic triggered additional activism, compounded when patients with the rare disease hemophilia became HIV-positive after infusion of tainted blood products. And the third spark was the emergence in the early 1980s of biotechnology companies like Genentech, Amgen, and Biogen employing then-new genetic engineering instead of conventional approaches to pharmaceutical development. Soon after, Genzyme became the first company to develop a treatment for a rare genetic disorder, Gaucher disease, which would come to transform the industry. Jim Geraghty has been a passionate participant in the orphan drug revolution since its inception--a leader in the field as a strategy consultant, biotechnology executive, and venture entrepreneur. Inside the Orphan Drug Revolution: The Promise of Patient-Centered Biotechnology (Cold Springs Harbor Lab Press, 2022) is in part a history, with eyewitness accounts of advances as they occurred and portraits of the pioneering scientists and physicians, tireless activists, and visionary business leaders who made the revolution happen. And it tells deeply personal stories of patients and parents willing to risk new, untried therapies. But Geraghty also uses his exceptional experience and vantage point to look forward to the immense promise of the newest technologies like gene therapy and gene editing for the treatment of patients today and tomorrow. He concludes with thoughtful consideration of important questions. Why do drugs to treat orphan diseases cost so much? How can we ensure they are affordable? How can their effectiveness be responsibly assessed? And how can access to them be expanded internationally? This book graphically and poignantly illustrates how far an important healthcare revolution has come and reminds us that if not nurtured, it could end before its immense promise has been fulfilled. Learn more about your ad choices. Visit megaphone.fm/adchoices Support our show by becoming a premium member! https://newbooksnetwork.supportingcast.fm/science

I sat down with my coach, Dan Gaucher, to learn about his background and teaching philosophy. Dan is a teaching professional out of Shaker Ridge Country Club in Albany, NY. We debrief the 2022 U.S. Women's Mid-Amateur, where Dan was my caddie, and discuss opportunities for improvement in the off season. The episode is packed with takeaways for golfers of any skill level looking to improve. I'm inspired by Dan's love for the game and passion for coaching. If you like what you hear, you can connect with Dan on instagram @dangauchergolf.

As we continue our focus on rare diseases on Raise the Line, we're delighted to be joined by Dr. Alaa Hamed, Global Head of Medical Affairs, Rare Diseases at Sanofi, one of the leading pharmaceutical companies in the world. Although most well known for their focus on lysosomal storage disorders including Gaucher and Pompe disease, Dr. Hamed and his team at Sanofi are also working in adjacent disease spaces depending on the systems affected. “For example, the lysosome in Pompe disease affects the neuromuscular tissues, so we have a neuromuscular disorder interest as well.” In their discussion, Dr. Hamed and host Shiv Gaglani also touch on the efforts Sanofi is making to shorten the diagnostic odyssey for rare disease patients, including building more disease awareness and greater global infrastructure.  “From the inception, we thought that having universal access is a key part of the rare disease equation.” You'll also learn about the challenges of drug development, the importance of maintaining policy incentives to focus on rare diseases, and where innovation is needed most to advance outcomes for patients. Mentioned in this episode: https://www.sanofi.com/ 

This CME/CE activity, hosted by Ozlem Goker-Alpan, MD, Co-founder and President Lysosomal & Rare Disorders Research & Treatment Center (LDRTC) and Sonata Jodele, MD, Research Professor of Pediatrics at Cincinnati Children's Hospital Medical Center, highlights the current trends in gene therapy for lysosomal storage diseases as well as some of the safety concerns with such therapy. At the end of this activity, participants should be able to: Describe the limitations and unmet needs of the current therapeutic landscape for lysosomal disorders Review the gene transfer therapies for lysosomal disorders Describe the best clinical practices to monitor the safety profile of gene therapy Describe the best practices for gene therapies Educational Support for this activity was provided by Takeda, Sanofi, and Chiesi. To obtain CME credit, please visit https://checkrare.com/learning-center/courses/

Adrianna was born with type 1 Gaucher Disease, a genetic condition in which an enzyme is missing from the body. This leads to a build up of fatty cells that can cause damage throughout the body. For Adrianna, this has led to intense bone pain, low platelet count, anemia, extreme […]

Thanks to the AVROBIO team for a great day of patient advocacy. We feel so honored to be a part of these conferences and always take so much away from them.  And a huge thank you to panelists Jordan, Darren, and Kim. Gene Therapy treatments have the potential to make a profound impact in rare disease. However, these potentially permanent therapies present unique considerations for any participant in clinical trials. When we were presented with the opportunity to moderate a panel of people who either participated in gene therapy studies or had extensive knowledge to share on this topic, we jumped on it! AVROBIO's vision is to bring personalized gene therapy to the world. They aim to prevent, halt or reverse disease throughout the body with a single dose of gene therapy designed to drive durable expression of therapeutic protein, even in hard-to-reach tissues and organs including brain, muscle, and bone. AVROBIO's ex vivo lentiviral gene therapy pipeline includes clinical programs in Fabry disease, Gaucher disease type 1 and cystinosis, as well as preclinical programs in Hunter syndrome, Gaucher disease type 3 and Pompe disease.  For additional information, visit www.avrobio.com