Podcasts about Gaucher

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.

Who hasn't heard about energy-efficient renovation without really knowing where to begin? Between the jargon, the costs, and the red tape, it can feel overwhelming. That is why we are bringing Xavier Gaucher onto On the Way. He is the founder of La Fresque de la Rénovation, and he is here to show us that renovation is not just about fixing up a house –it is about tackling a collective challenge that impacts our comfort, our wallets, and our planet. In this episode, Xavier shares his story, his vision, and a clear roadmap for making energy-efficient renovation doable–and successful. It is a conversation packed with practical tips for anyone ready to cut through the noise and finally take action. If you missed it, check out our previous episode with Catherine Leleu from The Future is Neutral, where we dive into the circular economy in the auto industry. Different sector, but a shared ambition: building a future that is smarter, leaner, and more sustainable. You can listen to this episode –and all our others– on your favorite podcast app. Enjoy!Hébergé par Ausha. Visitez ausha.co/politique-de-confidentialite pour plus d'informations.

Qui n'a jamais entendu parler de rénovation énergétique… sans trop savoir par où commencer ? Entre jargon technique, coûts et démarches complexes, le sujet peut vite sembler inaccessible.                                                                                  C'est justement pour lever ces freins que nous recevons Xavier Gaucher au micro d'On The Way. Fondateur de la Fresque de la rénovation, il explique pourquoi la rénovation est bien plus qu'une affaire de travaux : c'est un enjeu collectif, essentiel pour notre confort, nos factures et notre planète ! Dans cet épisode, il nous partage son parcours, sa vision et les étapes à suivre pour une rénovation énergétique de l'habitat réussie.Un échange qui donne des clés concrètes pour celles et ceux qui veulent enfin y voir clair et passer à l'action. (Re)Découvrez aussi l'épisode précédent avec Catherine Leleu, de The Future is Neutral, qui nous parle d'économie circulaire dans l'automobile. Deux secteurs différents, une même ambition : imaginer un avenir plus sobre et plus intelligent dans l'usage de nos ressources. Cet épisode ainsi que tous les autres épisodes sont à retrouver sur toutes vos plateformes d'écoutes préférées. Bonne écoute !Hébergé par Ausha. Visitez ausha.co/politique-de-confidentialite pour plus d'informations.

Silvia and Rodrigo are joined by Dr Ray Wang, Director of the multidisciplinary Foundation of Caring Lysosomal Storage Disorder Program at the Children's Hospital of Orange County. Silvia asks Dr Wang and Rodrigo (who also happens to be a researcher in this field) about cutting-edge advances in LSD research: from base editing in Pompe disease and patient-specific in vivo gene editing, to new biomarkers and scoring systems in Gaucher disease, insights into lipid dysregulation across lysosomal storage disorders, and the first clinical trial of anakinra in Sanfilippo syndrome. Papers discussed include: Christensen CL, et al Base editing rescues acid α-glucosidase function in infantile-onset Pompe disease patient-derived cells. Mol Ther Nucleic Acids. 2024 May 21;35(2):102220. doi: 10.1016/j.omtn.2024.102220. PMID: 38948331; PMCID: PMC11214518. Starosta RT, et al Predicting liver fibrosis in Gaucher disease: Investigation of contributors and development of a clinically applicable Gaucher liver fibrosis score. Mol Genet Metab. 2025 Feb;144(2):109010. doi: 10.1016/j.ymgme.2025.109010. Epub 2025 Jan 3. PMID: 39788861. Kell P, et al Secondary accumulation of lyso-platelet activating factors in lysosomal storage diseases. Mol Genet Metab. 2025 Jun 17;145(4):109180. doi: 10.1016/j.ymgme.2025.109180. Polgreen LE, et al Anakinra in Sanfilippo syndrome: a phase 1/2 trial. Nat Med. 2024 Sep;30(9):2473-2479. doi: 10.1038/s41591-024-03079-3. Epub 2024 Jun 21. Erratum in: Nat Med. 2024 Sep;30(9):2693. doi: 10.1038/s41591-024-03207-z. Musunuru K, et al Patient-Specific In Vivo Gene Editing to Treat a Rare Genetic Disease. N Engl J Med. 2025 Jun 12;392(22):2235-2243. doi: 10.1056/NEJMoa2504747.

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)

This week, I'm diving into the juiciest part of the eyeball—literally and historically. From ancient couching techniques that involved jabbing your eye with a sharp stick (yes, really) to modern lenses inspired by World War II cockpit glass, we're going deep into cataract surgery's wild evolution. Also: a peek at what fireworks do to your eyeballs, my questionable thoughts on ASMR medicine, and why the human lens is the peanut M&M of the ocular world. You'll never look at your eyeballs—or your sparklers—the same way again. Takeaways: Fireworks and Roman candles are an ophthalmologist's recurring July nightmare. The earliest cataract surgeries involved pushing your lens into your vitreous chamber—on purpose. The eye's limbus is basically the Achilles' heel of your vision. British pilots with plastic in their eyeballs helped invent modern lens implants. Want to learn better? Try laughing about Gaucher's disease. — To Get Tickets to Wife & Death: You can visit Glaucomflecken.com/live  We want to hear YOUR stories (and medical puns)! Shoot us an email and say hi! knockknockhi@human-content.com Can't get enough of us? Shucks. You can support the show on Patreon for early episode access, exclusive bonus shows, livestream hangouts, and much more! –⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ http://www.patreon.com/glaucomflecken⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠  Also, be sure to check out the newsletter: https://glaucomflecken.com/glauc-to-me/ If you are interested in buying a book from one of our guests, check them all out here: https://www.amazon.com/shop/dr.glaucomflecken If you want more information on models I use: Anatomy Warehouse provides for the best, crafting custom anatomical products, medical simulation kits and presentation models that create a lasting educational impact.  For more information go to Anatomy Warehouse DOT com. Link: https://anatomywarehouse.com/?aff=14 Plus for 15% off use code: Glaucomflecken15 -- A friendly reminder from the G's and Tarsus: If you want to learn more about Demodex Blepharitis, making an appointment with your eye doctor for an eyelid exam can help you know for sure. Visit ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠http://www.EyelidCheck.com⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ for more information.  Produced by⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Human Content Learn more about your ad choices. Visit megaphone.fm/adchoices

Cours Halakha Time du Mercredi 9 Juillet 2025 (durée : 6 minutes) donné par Rav Netanel ARFI.

Cours Halakha Time du Mercredi 9 Juillet 2025 (durée : 6 minutes) donné par Rav Netanel ARFI.

L’homme le plus occupé de la LNH par les temps qui courent, Pat Brisson, a pris une pause de ses occupations, le temps d’une dizaine de minutes, pour venir nous jaser de ses derniers jours. Chez CAA, son agence qu’il codirige avec son collège J.P. Barry, il nous explique que toutes les décisions passent par lui, il a toujours le dernier mot! Il aborde également la situation de Sidney Crosby à Pittsburgh et affirme que toutes les rumeurs qui l’entourent ne sont que des spéculations! Dans les prochaines années, peu de québécois côtoierons Caleb Desnoyers autant que l'entraîneur-chef du Mammoth de l’Utah. Il vient nous jaser, entre autres, de l’acquisition de l’attaquant allemand, JJ Peterka et de la belle progression qu’a connu son club cette saison. De plus, il ajoute à quel point il est étonné et content de voir l'enthousiasme des partisans de l’équipe à leur encontre, 41 matchs à domicile à guichets fermés en 2024-25! Justin Carbonneau était encore sur un nuage alors que nous lui parlions, en direct du camp d'entraînement des Blues à St-Louis. Il nous révèle les coulisses suite à sa sélection, de son avenir dans les rangs juniors, mais aussi de qui étaient ses exemples en grandissant, avec un rêve bien précis en tête : celui de jouer dans la LNH. Un qui sera gonflé à bloc en vue de son prochain camp d'entraînement, c’est certainement l’attaquant québécois repêché par les Ducks en 2022, Nathan Gaucher. Après avoir passé deux saisons dans les mineurs avec la filiale de San Diego, il a bien hâte de prouver à l’organisation qu’il est capable de se tailler un poste dès la prochaine saison. Gaucher était avec Zackary Bolduc lorsqu’il a appris qu’il était transigé en retour de Logan Mailloux, il a même passé l’après-midi, chez lui, pour le soutenir dans cette épreuve. 1)Pat Brisson 2)André Tourigny 3)Justin Carbonneau 4)Nathan Gaucher Voir https://www.cogecomedia.com/vie-privee pour notre politique de vie privée

MichnaBeroura_027-06-07 Gaucher by Shiour Yomi

This week on TABLE TALK, Jeff sat down with Madeline Campbell from BroadStreetHockey.com for a fantastic discussion about the Philadelphia Flyers offseason, the upcoming NHL Draft, and prospects within the Flyers farm system. It was a fun discussion with Maddie!- What position should the Flyers and Danny Briere concentrate on with the No. 6 overall pick in the draft?- What talent and players should be looked at by the front office at No. 6 overall?- Is Helge Grans on track to move up to the big club in the future from the Lehigh Valley Phantoms?- What we should be liking about Jacob Gaucher as a prospect within the Flyers pipeline.All of this and much more this week on Table Talk!SUBSCRIBE on YouTube: youtube.com/@thephiladelphiasportstableHead over to our website for all of our podcasts and more: philadelphiasportstable.comFollow us on BlueSky:Jeff: @jeffwarren.bsky.socialErik: @brickpollitt.bsky.socialFollow us on Threads:Jeff: @mrjeffwarrenErik: @slen1023The Show: @philadelphiasportstableFollow us on Twitter/X:Jeff: @Jeffrey_WarrenErik: @BrickPollittThe Show: @PhiladelphiaPSTFollow us on Instagram:Jeff: @mrjeffwarrenErik: @slen1023The Show: @philadelphiasportstable.Follow Jeff on TikTok: @mrjeffwarrenFollow us on Facebook: facebook.com/PhiladelphiaSportsTable

Un épisode pour les parents, enseignants et intervenants droitiers qui accompagnent des gauchers vers l'apprentissage de l'écriture. APERÇU DU CONTENU Quels sont les défis des gauchers en lien avec l'apprentissage de leur écriture ? Considérations et stratégies pour la préparation et les début de l'apprentissage Et 3 faits intéressants sur les gauchers. Et tout ça, de la perspective de l'ergothérapie ! Bonne écoute! --- Si tu trouves que le contenu de ce podcast est utile, tu peux m'aider à le faire connaitre en le partageant, en t'abonnant et en le notant avec ⭐⭐⭐⭐⭐. Et tu peux m'écrire pour me suggérer des sujets (touchant la motricité) à aborder au jcs@josianecaronsantha.com. Merci

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.

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.

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 ?

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

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.

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).

#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

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

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/ 

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 […]