Rare and Genetic Disease Network


Gene Therapy for Hemophilia A

Sangamo is a genomic medicine company that is starting to develop gene therapies for a number of conditions. Sandy Macrae, PhD, Chief Executive Officer of Sangamo talks about the work they are currently doing to develop a gene therapy for hemophilia A. While great...

Differential Diagnosis of Mucopolysaccharidosis Type I (MPS 1)

Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone Health discusses the differential diagnosis of Mucopolysaccharidosis type I (MPS I), a condition that affects many parts of the body. MPS I is a condition that affects many parts of the body.

Drug Price vs Drug Value

Nick Kenny, PhD, Chief Scientific Officer at Syntheos Health discusses his company’s efforts to streamline data management for clinical trials, including the need to determine the value that a new drug will have on the health care system.

Fibromuscular Dysplasia (FMD) Overview

Jeffrey W Olin, DO is a Professor of Medicine at the Icahn School of Medicine at Mount Sinai, provides an overview of fibromuscular dysplasia (FMD), a rare condition characterized by abnormal development or growth of cells in the walls of blood vessels (arteries) that can cause the vessels to narrow.

RDLA Empowers Rare Disease Patients

Christina Hartman, Senior Director of Advocacy & Policy for the EveryLife Foundation describes RDLA’s philosophy as “We don’t speak for the patients, but we empower the patients to have the knowledge and the tools to speak for themselves, and to advocate for these policies.”

Angelman Syndrome Clinical Study Showing Promise

Angelman syndrome is a rare neurodevelopmental disorder caused by a genetic mutation – usually a mutation in the ubiquitin protein ligase E3a (UBE3A) gene – that leads to a reduction in UBE3A protein.

How Clinical Trials Are Evolving

“Physicians of all types need to be involved with this (clinical trial research) because the biotechnology is advancing so rapidly right now,” said Neal Weinreb, MD, a leading genetics and lysosomal storage disease researcher located in Coral Springs, Florida.

Special Reports

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