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The Genetic Mystery of Hypermobile EDS
Manage episode 383548683 series 3515056
Contenido proporcionado por Dr Libby Hinsley. Todo el contenido del podcast, incluidos episodios, gráficos y descripciones de podcast, lo carga y proporciona directamente Dr Libby Hinsley o su socio de plataforma de podcast. Si cree que alguien está utilizando su trabajo protegido por derechos de autor sin su permiso, puede seguir el proceso descrito aquí https://es.player.fm/legal.
In this episode, Libby talks with Victoria Daylor from the Norris Lab at the Medical University of South Carolina, where she and a team of researchers have identified candidate genes that may explain many cases of hypermobile EDS. Since their research is currently in the peer review process, Victoria can’t spill the beans. But she sheds light on what we know about the various subtypes of EDS and why this one has been so tough to nail down.
Some highlights of this episode include:
- The prevalence of the various subtypes of EDS
- What we understand about the genetic basis for all EDS subtypes except hypermobile EDS
- Why you can’t just get a genetic blood test to diagnose hEDS
- How the Norris lab is developing research models to help understand hEDS and HSD
- The process that has led to discovering some potential genetic variants to explain hEDS
- What the scientific peer review process looks like and why it takes so long
- What a day in lab life is like for Victoria
- The summer internship program at the Norris Lab
- Some other research projects happening at the Norris Lab including one related to tethered cord syndrome
- A questionnaire-based research project for anyone with an EDS or HSD diagnosis currently underway
- A discussion about the differences and similarities between hEDS and HSD
- The wide variety of symptom presentation among people with hEDS and HSD
- How increased diagnosis rates can drive improvements in resource allocation for research
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