article thumbnail

Researchers discover a novel genetic disorder associated with neurodevelopmental differences

Medical Xpress

Researchers from Children's Hospital of Philadelphia (CHOP) and Princeton University have discovered a novel genetic disorder associated with neurodevelopmental differences. The study "Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish" is published in Science Advances today, April 26.

Genetics 101
article thumbnail

Breakthrough: Rare Gene Mutation Offers Clues to Preventing Type 1 Diabetes

AuroBlog - Aurous Healthcare Clinical Trials blog

A unique genetic mutation in two siblings – that has never been seen in anyone else – has been discovered by UK researchers at the University of Exeter, pointing the way towards new treatment options for type 1 diabetes. The mutation is in the gene for a protein called programmed death-ligand 1 (PD-L1), and a […]

Gene 183
Insiders

Sign Up for our Newsletter

This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply.

article thumbnail

Lilly and ProQR to expand genetic medicine development agreement

Pharmaceutical Technology

Eli Lilly and Company has expanded a licencing and partnership agreement with ProQR Therapeutics to discover, develop and market new genetic medicines. The post Lilly and ProQR to expand genetic medicine development agreement appeared first on Pharmaceutical Technology.

Genetics 328
article thumbnail

Key Parkinson’s protein could offer new potential targets for treatment

Pharma Times

Researchers from Johns Hopkins University School of Medicine have revealed new findings about a key pathological protein associated with Parkinson’s disease (PD), which could lead to new treatments. However, its relation to dopaminergic neuron death is unclear.

Protein 100
article thumbnail

Insights into causes of rare genetic immune disorders

Medical Xpress

The cellular glitches underlying a rare genetic disorder called activated PI3K Delta syndrome 2 (APDS2) have been identified by researchers at the Garvan Institute of Medical Research. The disorder is caused by genetic variations that disrupt immune cell signaling through a protein called PI3K.

article thumbnail

Small glowing protein allows researchers to peer deeper into living tissues

Medical Xpress

Biomedical and genetic engineers at Duke University and the Albert Einstein College of Medicine have designed a small fluorescent protein that emits and absorbs light that penetrates deep into biological tissue.

Protein 75
article thumbnail

Toxic protein linked to muscular dystrophy and arhinia

Medical Xpress

Researchers at the National Institutes of Health and their colleagues have found that a toxic protein made by the body called DUX4 may be the cause of two very different rare genetic disorders.

Protein 98