Genetics

Diagnostic and genetic testing
Eliminating the Diagnostic Odyssey with Newborn Screening

Eliminating the Diagnostic Odyssey with Newborn Screening

Melissa Wasserstein, MD, Chief of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore talks about the need for newborn screening to help eliminate the long and often frustrating delays in a getting a proper diagnosis for rare conditions.

Sanford Health and Rare Diseases

Sanford Health and Rare Diseases

David Pearce, PhD, of the Coordination of Rare Diseases at Sanford (CoRDS) talks about Sanford Health, one of the largest health systems in the United States.

Lipodystrophy is Often Misdiagnosed

Lipodystrophy is Often Misdiagnosed

  Andra Stratton, president of Lipodystrophy United explains how lipodystrophy is often misdiagnosed or under-diagnosed. Lipodystrophy is a rare medical condition in which persons have an abnormal distribution of fat in the body. There are numerous types of...

Friedreich’s Ataxia

Friedreich’s Ataxia

Brigid Brennan of the Friedreich’s Ataxia Research Alliance (FARA) discusses Friedreich’s ataxia (FA), a degenerative neuro-muscular disorder due to mutations in the FXN gene that reduces the production of frataxin, a protein important for proper mitochondrial functions.

Huntington’s Disease Drug Development and Patient Groups

Huntington’s Disease Drug Development and Patient Groups

Scott Schobel, MD, MSc, clinical science leader for Roche’s Huntington Disease Program talks about the role that Huntington disease patient group, throughout the world, helped Roche develop their clinical program focused on Huntington disease.

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