Medical genetics

From Medical Mystery to Gene Therapy: One Family’s Sialidosis Journey

MENDEL LECTURES / Jakub Tolar / 19. 3. 2026

EP 231: From polygenic scores to AI-driven medicine with Andrea Ganna of FIMM

Inside ACMG 2026: How AI and New Tools Enhance Genome Sequencing and Equity

Perspectivas del uso de transcriptómica espacial y de células única en la clínica

Perspectives on the use of spatial transcriptomics and single-cell in the clinic

EP 230: From short reads to long reads in clinical genomics with Anna Lindstrand of Karolinska

Full Recording of the March 2026 ICARE Genetics Case Conference

Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey

Andrea Maier at ARDD2025: Epigenetic clocks Working group

EP 229: Turning personal tragedy into a movement for preventive genetics with Matthew Goldstein

Inside the Brazilian Rare Genomes Project

EP 228: What genomes reveal about EBV and human disease with Ryan Dhindsa and Caleb Lareau

【City of Stress, Science of Hope: The Power of Genomics in Mental Wellness】

ESHG Webinar Series Season 2 Episode 2 with Amanda Pichini, James R. Bonham and Gulcin Gumus

EP 227: Discovering a new neurodevelopmental syndrome in the non-coding genome with Nicky Whiffin

Diagnostic génétique du LPAC – JAMRF25

Genetic diagnosis of LPAC – JAMRF25

Keynote Presentation: Discovering and Defining the Telomere Biology Disorders

Dr. Mansi Desai Explained HPV, Cancer, Intellectual Disabilities and More

Managing Risk of Gastric Cancer in Patients with Pathogenic Germline Variants in CDH1

ESHG Webinar Series Season 2 Episode 1 with Sarah Norris

NIPT Beyond the Basics: Screening for Single-Gene Conditions

Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing

Improving fusion detection sensitivity in the TruSight Oncology 500 Panel

【International Genomic Medicine Symposium - Patient Voices & Perspectives】

【International Genomic Medicine Symposium - Panel 5】

【International Genomic Medicine Symposium - Panel 4】

【International Genomic Medicine Symposium - Panel 3】

【International Genomic Medicine Symposium - Panel 2】

【International Genomic Medicine Symposium - Panel 1】

EP 223: Live at JPM: Rewriting disease with genetic medicine with Michelle Werner & Mike Severino

Jornada- Situación y perspectiva de la genética clínica en España

Symposium: The Situation and Outlook of Clinical Genetics in Spain

"Challenges and opportunities of genomics in sepsis", Prof.Julian Knight

EP 222: From genetic risk to gene editing in heart failure with Travis Hinson of JAX and UConn

🎥✨ Martes de Divulgación Científica - 02 de diciembre 2025 - Polimorfismos Cyp3a5 - Renal Crónica

🎥✨ Science Outreach Tuesdays - December 02, 2025 - CYP3A5 Polymorphisms - Chronic Kidney

Prostate Cancer Genetic Risk and Management

The Eras of Genetic Testing: From the Human Genome Project to Precision Medicine

Mock Pediatric Genetic Counseling Session: Cystic Fibrosis

ESHG Webinar Series Episode 8 with Lisenka Vissers

ESHG Webinar Series Episode 7 with Elfride de Baere

Dr. Harsh Sheth Explains Lynch Syndrome, Male Infertility & Reproductive Medicine in India