Rare and Genetic Disease Network

Featured

Hereditary Xerocytosis Overview

Lara Sullivan, MD, President and Founder at SpringWorks Therapeutics discusses Hereditary Xerocytosis, a genetic disorder in which red blood cells become dehydrated due to loss of potassium and cell water.

Phase 3 Trials of Rare Genetic Obesity Disorders Completes Enrollment

Rhythm Pharmaceuticals announced that it has completed enrollment of the pivotal cohorts of 10 patients in two separate, ongoing, registration-enabling Phase 3 clinical trials evaluating setmelanotide in pro-opiomelanocortin (POMC) and leptin receptor (LEPR) deficiency obesity.

Patient-Centric Perspective Offers Key Insights into Upcoming Mitochondrial Treatment Studies

As clinical trials gear up with the aim of attaining the first FDA-approved treatments for mitochondrial disease, a new study reports for the first time what patients and families say would motivate them for or against participating in such research trials. Mitochondrial genetic disorders refer to a group of conditions that affect the mitochondria (the structures in each cell of the body that are responsible for making energy).

Usher Syndrome Overview

Daniel de Boer, Founder and CEO of ProQR, discussuses Usher syndrome, a genetic disorder characterized by sensorineural hearing loss or deafness and progressive vision loss due to retinitis pigmentosa.

Chris Garabedian Discusses Xontogeny

Chris Garabedian discusses his new compay, Xontogeny, a biotech aggregator with a differentiated business model to support the accelerated development of life science technologies in the pursuit of helping patients with serious diseases.

Challenges of Diagnosing Patients with 22q11.2 Deletion Syndrome

Bernice Morrow, PhD, Director of Translational Genetics, Albert Einstein College of Medicine, discusses some of the challenges of diagnosing patients with 22q11.2 deletion syndrome, a disorder caused by the deletion of a small piece of chromosome 22. 22q11.2 deletion...

John Maraganore Speaks Out on His Role as Bio Chair

Dr. John Maraganore has served as the CEO and a Director of Alnylam since 2002 and is the Chair of the Biotechnology Innovation Organization (BIO) for the 2017-2018 term. Dr. John Maraganore has led a career pursuing therapies to address unmet medical needs. At...

Special Reports