Ep. 82: Gene Mutations and Gene Variants

Ep. 82: Gene Mutations and Gene Variants

Moderator: Federica Montagnese (Munich, Germany) Guest: Magda Mroczek (Basel, Switzerland) In this podcast, Dr. Federica Montagnese interviews Dr. Magdalena Mroczek about gene mutations and variants in neuromuscular disorders, with a focus on muscular dystrophies. They discuss the impact of advanced technologies on genetic testing, highlighting the importance of clinical data and collaboration between clinicians and geneticists. The conversation touches on challenges in interpreting variants, the role of epigenetic factors, and initiatives to enhance access to genetic tools in low-income countries through international collaborations. The podcast underscores the dynamic nature of genetic diagnostics, emphasizing the importance of continuous research and education in the field.

Avsnitt(192)

Ep. 144: New Methods to Identify Larger Structural Variants

Ep. 144: New Methods to Identify Larger Structural Variants

Moderator: Maria Judit Molnar (Budapest, Hungary) Guest: Arianna Tucci (London, UK) In this episode Molnar hosts Tucci as they explore how advancements in short- and long-read sequencing technologies...

20 Apr 202519min

Ep. 143: Novel Aspects of Repeat Expansions in Disease

Ep. 143: Novel Aspects of Repeat Expansions in Disease

Moderator: Francesca Magrinelli (London, UK)Guest: Andrea Cortese (London, UK)Join Magrinelli as she interviews Cortese about recent developments in the diagnosis and management of repeat expansion di...

13 Apr 202521min

Ep. 142: Papers of the Month: Mismatch Repair & DNA Expansion in Huntington’s Disease

Ep. 142: Papers of the Month: Mismatch Repair & DNA Expansion in Huntington’s Disease

Moderator: Jean-Marc Burgunder (Guemligen, Switzerland)Guest: Sandrine Humbert (Paris, France)In this week's episode, Burgunder and Humbert discuss the intriguing phenomenon of somatic expansion—the f...

6 Apr 202529min

Ep. 141: Sodium Valproate in Men

Ep. 141: Sodium Valproate in Men

EAN moderator: Barbara Tettenborn (St. Gallen, Switzerland) Guest: Tony Marson (Liverpool, UK) In this special episode, Tettenborn and Marson discuss sodium valproate treatment for epilepsy, focusing...

30 Mars 202518min

Ep. 140: Transition from Childhood to Adulthood​

Ep. 140: Transition from Childhood to Adulthood​

Moderator: Gudrun Gröppel​ (Linz, Austria) Guests: Dana Craiu​ (Bucharest, Romania), Thomas Berger​ (Vienna, Austria) This episode explores the challenges and solutions in transitioning young neurol...

23 Mars 202520min

Ep. 139: Supporting Early Brain Development

Ep. 139: Supporting Early Brain Development

Moderator: Leena Haataja (Helsinki, Finland) Guests: Silja Kosola (Helsinki, Finland), Liisa Lehtonen (Turku, Finland) In the third March episode Haataja, Kosola and Lehtonen focus on evidence-based...

16 Mars 202524min

Ep. 138: The Brain Health Mission Roadmap

Ep. 138: The Brain Health Mission Roadmap

Moderator: Elena Moro (Grenoble, France) Guest: Paul Boon​ (Gent, Belgium) This special episode of eanCast explores the Brain Health Roadmap Paper initiated by the European Academy of Neurology, high...

9 Mars 202518min

Ep. 137: New Horizons on Treatment Choices of Rare Disorders

Ep. 137: New Horizons on Treatment Choices of Rare Disorders

Moderator: Justyna Paprocka (Katowice, Poland) Guests: Laurent Servais (Oxford, UK), Michelangelo Mancuso (Pisa, Italy) In this first March episode, Paprocka, Mancuso, and Servais explore groundbrea...

2 Mars 202525min

Populärt inom Vetenskap

dumma-manniskor
svd-nyhetsartiklar
p3-dystopia
allt-du-velat-veta
kapitalet-en-podd-om-ekonomi
rss-ufo-bortom-rimligt-tvivel
rss-vetenskapsradion-2
det-morka-psyket
rss-vetenskapsradion
medicinvetarna
vetenskapsradion
bildningspodden
rss-geopodden-2
sexet
rss-spraket
halsorevolutionen
rss-arkeologi-historia-podden-som-graver-i-vart-kulturlandskap
rss-experimentet
hacka-livet
ideer-som-forandrar-varlden