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Huntington’s disease (HD) is a neurodegenerative disease inherited in an autosomal dominant manner. It is caused by an expansion of cytosine, adenine, guanine (CAG) repeats within the huntingtin (HTT) gene, which is located on chromosome 4. This pathological expansion of CAG repeats results in the production of a mutant huntingtin protein with an abnormally long polyglutamine […]

Lisa Sarfaty: Exploring and addressing inequities in rare diseases

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Published Online: Feb 27th 2023

Rare diseases can present numerous challenges for those living with these conditions and the healthcare professionals caring for them. In this interview we discuss some of these with Lisa Sarfaty, VP of Communication and Engagement for NORD (The National Organization for Rare Disorders) and explore ways in which they could be tackled. 

Questions

  1. Could you tell us a little about the inequities surrounding living with a rare condition? (0:18)
  2. What systemic changes do you think are needed to address these and generate change? (3:02)

We hope that this conversation can continue our work to help support the rare disease community, increase awareness and improve understanding.

Disclosures: Lisa Sarfaty has nothing to disclose in relation to this video interview.

Support: Interview and filming supported by Touch Medical Media Ltd. Interview conducted by Gina Furnival.

Additional resources

rarediseaseday.org

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