GeneticsDiagnostic and genetic testing
- The Role of Patient Advocacy in Drug Development in Cystic Fibrosis
Mr. Robert (Bob) E. Ward, Chairman of the Board and Chief Executive Officer of Eloxx Pharmaceuticals discusses the role of advocacy groups in drug development, especially for rare diseases such as cystic fibrosis (CF).
- Fabry Disease: Overview, Diagnosis Challenges, Treatments, and Emerging Therapies
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Fabry disease, an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body’s cells.
- Phase 3 Trial Results of Endari in Sickle Cell Disease Published
Emmaus Life Sciences announced that the New England Journal of Medicine (NEJM) has published the results of its 48-week phase 3 clinical trial of Endari (L-glutamine oral powder) which supported the FDA approval in 2017 to reduce the acute complications of sickle cell disease in adult and pediatric patients 5 years of age and older.
- Baebies: A New Born Screening Company
Richard West, Founder and CEO of Baebies, a newborn testing diagnostic company, provides an overview of his platform.
- Considering Rare Diseases for Challenging Cases
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses how physicians need to consider rare diseases for some of their more challenging diagnositic cases.
- Progressive Familial Intrahepatic Cholestasis (PFIC) Overview
Ron Cooper, President and CEO of Albireo, provides and overview of progressive familial intrahepatic cholestasis (PFIC), a rare genetic condition that affects the liver. PFIC is estimated to affect between one in every 50,000 to 100,000 children born worldwide and causes progressive, life-threatening liver disease.
- FDA Grants Fast Track Designation to CUTX-101 for Classic Menkes Disease
The U.S. Food and Drug Administration (FDA) granted Fast Track Designation to Cyprium Therapeutics’ Copper Histidinate, (CUTX-101), for patients diagnosed with classic Menkes disease who have not demonstrated significant clinical progression.
- Hunter Syndrome (MPS Type II) Overview
Heather A. Lau, MD, Director, Lysosomal Storage Disease Program at NYU Langone in New York City discusses Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome.
- Alexion Submits BLA For Priority Review And Approval Of ALXN1210
Alexion Pharmaceuticals has submitted a Biologics License Application (BLA) to the YOU.S. Food and Drug Administration (FDA) for approval of ALXN1210 for the treatment of patients with paroxysmal nocturnal hemoglobinuria (PNH), an ultra-rare, potentially deadly disease of the blood.T
- 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).