Rare and Genetic Disease Network

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FDA Approves Second Exon-Skipping Drug for Duchenne

FDA Approves Second Exon-Skipping Drug for Duchenne

The U.S. Food and Drug Administration has approved Vyondys 53 (golodirsen) to treat patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping. Golodirsen is an antisense oligonucleotide that can ‘skip’ over aspects of the RNA to make person’s with...

Gene Control vs Gene Therapy

Gene Control vs Gene Therapy

David Roth, MD of Syros Pharmaceuticals describes his company’s gene control methodology to target genetic conditions in a unique way.

ASH Highlights: Combination Oral Therapy for Relapsed CLL Shows Promise

ASH Highlights: Combination Oral Therapy for Relapsed CLL Shows Promise

Jennifer Crombie, MD, of the Department of Medical Oncology at Dana-Farber Cancer Institute in Boston, MA discusses the results of a phase I study testing the combination of duvelisib and venetoclax in patients with relapsed or refractory chronic lymphocytic leukemia (CLL).

FDA Puts Hold on Trials for Rare Bone Disease

FDA Puts Hold on Trials for Rare Bone Disease

The U.S. Food and Drug Administration has issued a partial clinical hold in two studies underway to test palovarotene chronic treatment of fibrodysplasia ossificans progressiva (FOP) and multiple osteochondromas, respectively.

Testing for Hereditary Angioedema is Easy

Testing for Hereditary Angioedema is Easy

In this video clip, Timothy Craig, DO of the Penn State Milton S. Hershey Medical Center describes some of the symptoms that may warrant testing for HAE.

CRB1 Retinal Disease and Quality of Life

CRB1 Retinal Disease and Quality of Life

Kristin Smedley, president of Curing Retinal Blindness Foundation, talks about what doctors need to know about conditions such as retinitis pigmentosa and Leber congenital amaurosis.

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...

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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