Research

Focus on the pharmaceutical and biotech industry
Risdiplam and Spinal Muscular Atrophy

Risdiplam and Spinal Muscular Atrophy

Claudio Santos, MD, MBA of PTC Therapeutics provides an update on the orphan drug being developed by the company, in partnership with Roche, to treat spinal muscular atrophy (SMA).

Gene Therapy and Hemophilia A

Gene Therapy and Hemophilia A

Adrian Woolfson, MD, PhD, of Sangamo Therapeutics talks about the physical and psychological advantages of using gene therapy to treat hemophilia A.

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.

Hemophilia A Treatment Options

Hemophilia A Treatment Options

Snejana Krassova, MD of Bayer Pharmaceuticals talks about the need for more treatment options to be available for persons with hemophilia A.

Diagnosing AADC Deficiency

Diagnosing AADC Deficiency

  Claudio Santos, MD, MBA, of PTC Therapeutics describe the pathophysiology of Aromatic l-amino acid decarboxylase (AADC) deficiency and how it is diagnosed. AADC deficiency is a rare genetic disorder due to mutations in the DDC gene that regulates the AADC...

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