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.
FDA Grants Orphan Drug Designation to New Treatment for Rett Syndrome
The U.S. Food and Drug Administration has granted Orphan Drug Designation to AMO Pharma for it’s investigational therapy called AMO-04 for the treatment of Rett syndrome, a rare childhood neurodevelopmental disorder.
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.
Pulmonary Arterial Hypertension (PAH): Emerging Treatment Options
Roxana Sulica, MD, Associate Professor, Department of Medicine and Director, Pulmonary Hypertension at NYU Langone in New York City discusses some of the emerging tretment options for pulmonary arterial hypertension (PAH).
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.
Mucopolysaccharidosis Type I: Overview, Diagnosis Challenges, Treatments, and Emerging Therapies
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Mucopolysaccharidosis type I (MPS I).
Eloxx Pharmacueticals and It’s Focus on Cystic Fibrosis
Mr. Robert (Bob) E. Ward, Chairman of the Board and Chief Executive Officer of Eloxx Pharmaceuticals provides an overview of his company and it’s focus on cystic fibrosis.
FDA Approves Combination of Venclexta and Rituxan for Lymphocytic Leukemia
The Food and Drug Administration (FDA) granted approval to venetoclax for patients with chronic lymphocytic leukemia (CLL) or small lymphocytic lymphoma (SLL), with or without 17p deletion, who have received at least one prior therapy.
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
Rare Disease Diagnosis: Huntington’s Disease
Treatment Options for Myeloproliferative Neoplasms
Glyn Edwards of Summit Therapeutics Discusses Endpoints of DMD Trials
Biglyca: An Emerging Therapy for Duchenne Muscular Dystrophy
The Importance of Advocacy Groups Such as the Fragile X Foundation
Rare Disease Diagnosis: Huntington’s Disease
Treatment Options for Myeloproliferative Neoplasms
Glyn Edwards of Summit Therapeutics Discusses Endpoints of DMD Trials
Biglyca: An Emerging Therapy for Duchenne Muscular Dystrophy
