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 technology designed to improve CRISPR-Cas9 gene editing in mosquitoes and other arthropods succeeds with a high degree of efficiency, while eliminating the need for difficult microinjection of genetic material, according to researchers.
Ashleigh Schaffer, Ph.D., assistant professor of genetics at Case Western Reserve University School of Medicine, and a team of global genetics experts have discovered a genetic mutation and the faulty development process it triggers, causing a debilitating brain-based disorder in children.
Published in Science Advances, the study shows that the TLK1 and TLK2 enzymes are critical for ensuring the copying of DNA.
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.
The fight against cystic fibrosis (CF) has taken a major step forward, with pioneering research by University of Adelaide scientists showing that cells causing the debilitating genetic disorder could be successfully replaced with healthy ones.
Researchers identified a rare cell type in airway tissue, previously uncharacterized in the scientific literature, that appears to play a key role in the biology of cystic fibrosis. Using new technologies to study gene expression in thousands of individual cells, the team comprehensively analyzed the mouse airway and validated results in human tissue. The molecular survey also characterized other new cell subtypes. The work has broad implications for all diseases of the airway.