A Beaverton family that has spent years searching for a replacement gene for their son’s rare genetic disorder says they are ...

Stanford Medicine pediatric hematologist Agnieszka Czechowicz, MD, Ph.D., has devoted her research career to improving ...

In an exciting scientific first, researchers at the Allen Institute successfully designed a new gene therapy that reversed symptoms related to SYNGAP1-related disorders (SRD) in mice. These are a ...

Genetic defects are exceedingly common, which is not surprising considering just how many cells make up our bodies, including our reproductive cells. While most of these defects have no or only minor ...

Learn about gene expression studies in progressive supranuclear palsy in Mayo Clinic's Precision Medicine in Neurodegeneration Lab led by Nilufer Ertekin-Taner, M.D., Ph.D.

This Ice Age pair of hunter-gatherers were both shorter than average for their population – one of them markedly so – and now we finally know why. A team of researchers from Europe re-examined the ...

New research from Queen Mary University of London (QMUL) has identified a novel syndrome in patients with kidney and adrenal disease. The research, published in the Journal of Clinical Investigation, ...

An integrin mutation impairs skin T cell migration, enabling HPV proliferation that causes warts and lesions in a rare genetic dermatological condition.

Chronic kidney disease (CKD) is a public health challenge that affects more than 800 million people worldwide. 1 CKD can be caused by a variety of disease processes. Many causes are difficult to ...

The Iowa State University Extension and Outreach Dairy Team monthly webinar series continues from noon to 1 p.m. April 2. The program will help Holstein breeders understand the muscle weakness genetic ...