Rare and Genetic Disease Network

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Tenosynovial Giant Cell Tumor (TGCT)

Tenosynovial Giant Cell Tumor (TGCT)

Tenosynovial giant cell tumor (TGCT) is a benign tumor involving the joint synovium, bursae, and tendon sheath. These rare tumors are sometimes referred to as giant cell tumor of the tendon sheath (GCT-TS) and/or pigmented villonodular synovitis (PVNS).

Future Treatment Options for Multiple Myeloma

Future Treatment Options for Multiple Myeloma

Amrita Krishnan, MD, hematologist-oncologist at the City of Hope Comprehensive Cancer Center talks about what the future holds for managing people with multiple myeloma.

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.

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.

Why Joint Pain Is Common in Hemophilia

Why Joint Pain Is Common in Hemophilia

Gallia Levy, MD, PhD, Associate Group Medical Director, at Genentech explains why joint pain is so prevalent in persons with Hemophilia A.

Spinal Muscular Atrophy

Spinal Muscular Atrophy

Spinal muscular atrophy (SMA) is a rare inherited neuromuscular disorder caused by an inadequate level of the survivor motor neuron (SMN) protein due to mutations in the SMN1 gene. The SMN protein appears to play a role in regulating small nuclear ribonucleoproteins...

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