News by Subject Biology

A new comprehensive natural history study about Amish nemaline myopathy (ANM) in the Old Order Amish population focuses on the promise of gene therapy for this lethal disorder. Amish nemaline myopathy (ANM) is an infantile-onset muscle disease linked to a mutation of the TNNT1 gene. The study summarizes genealogical records, clinical data, and molecular reports of one hundred and six ANM patients born between 1923 and 2017 and was led by researchers from the Clinic for Special Children in Strasburg, Pa.

A new study has shown that a single injection of a novel adeno-associated vector (AAV)-based therapy can result in improved enzyme activity and glycogen clearance as well as prolonged survival in a mouse model of Pompe disease.

Researchers at University of Utah Health have developed high-tech tools to uncover the genetic cause of the most difficult to diagnose cases.

As many as 50 percent of human cancer cases -- across a wide variety of tissues -- involve defects in a common cellular growth signaling pathway. These defects have so far defied most attempts to develop targeted therapies. Now researchers at UCSF and Redwood City-based Revolution Medicines Inc. have identified a new strategy for potentially treating intractable cancers by decoupling the entire RAS/MAP Kinase (MAPK) signaling pathway from external growth signals.

A comprehensive RNA and DNA sequencing platform benefits late-stage and drug-resistant multiple myeloma patients by determining which drugs would work best for them, according to results from a clinical trial published in JCO Precision Oncology in August.