Rare and Genetic Disease Network


The Rare Disease Film Festival

Daniel DeFabio discusses the Rare Disease Film Festival, a relatively new event showcasing films from around the world which address the challenges of life with a rare disease. The first event was held in Oct of 2017 in Boston, MA.

Tay Sachs Overview and Diagnosis Challenges

Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Tay-Sachs disease, a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

NIH to Accelerate Genetic Therapies for Sickle Cell Disease

The National Institutes of Health (NIH) today announced the launch of a new initiative to help speed the development of cures for sickle cell disease, a group of inherited blood disorders affecting at least 100,000 people in the United States and 20 million worldwide.

Celtaxsys: Focus on Cystic Fibrosis and Rare Inflammatory Diseases

Greg Duncan, President and Chief Executive Officer of Celtaxsys, provides an overview of his company and it’s focus on cystic fibrosis (CF), an inherited chronic disease that affects the lungs and digestive system of about 70,000 children and adults worldwide.

New Biomarker Panel Could Accelerate Autism Diagnoses

Investigators at the UC Davis MIND Institute and NeuroPointDX, a division of Stemina Biomarker Discovery, have identified a group of blood metabolites that could help detect some children with autism spectrum disorder (ASD).

Dr. David Birch Explains X-Linked Retinoschisis (XLRS)

David Birch, PhD, Scientific Director at the Retina Foundation discusses X-linked retinoschisis (XLRS) is an inherited early onset retinal degenerative disease caused by mutations in the RS1 gene. It is the leading cause of juvenile macular degeneration in males. XLRS...

Angelman Syndrome Overview

Amit Rakhit, MD, Chief Medical and Portfolio Officer at Ovid Therapeutics, provides an overview on Angelman syndrome. Angelman syndrome is a complex genetic disorder that primarily affects the nervous system. Characteristic features of this condition include delayed...

Special Reports