AI-MARRVEL helped identify rare BRSK1 variants linked to a neurodevelopmental disorder, with fruit fly studies revealing their effects on neurons.

Researchers at Baylor College of Medicine, the Duncan Neurological Research Institute (Duncan NRI) at Texas Children’s Hospital, the Texome Project and...

Kevin Mitchell talks with Huda Zoghbi about her work finding the MECP2 gene, dissecting the role it plays in the brain, and developing new therapies.

Researchers at Baylor College of Medicine and Texas Children Hospital’s Duncan Neurological Research Institute (Duncan NRI) have identified a rare genetic...

The 2026 Louisa Gross Horwitz Prize is awarded to Dr. Huda Zoghbi and Dr. Adrian Bird for their pioneering work with Rett syndrome.

JIMD Podcasts · Episode

Baylor College of Medicine announces 11 honorees to be recognized at the 2026 Alumni Awards ceremony on Thursday, Nov. 12, at Hotel ZaZa – Houston Museum...

Dr. Huda Zoghbi, Distinguished Service Professor and Howard Hughes Medical Institute Investigator at Baylor College of Medicine and founding director of...

The objective of this study is to investigate the safety, biodistribution, and exploratory clinical outcomes of enekinragene inzadenovec (PCRX-201), a high-capacity, nonintegrating, nonreplicating ade...

A new computational method enables scientists to more accurately identify genetic changes linked to disease.

New evidence explains differences in brain tissue vulnerability using animal models of human spinocerebellar ataxia type 1.

— A single locally administered intra-articular injection of PCRX-201 into the knee was well tolerated in patients with moderate-to-severe knee...

Researchers found that some bacteria share proteins that help others survive antibiotics.

Biallelic pathogenic variants in PNPT1 cause combined oxidative phosphorylation deficiency 13 (COXPD13) (MIM #614932), linking mitochondrial dysfunction to type I interferon (IFN) activation through ...

Many neurological diseases damage specific parts of the brain, even though the harmful protein involved is present throughout the brain. Researchers at...

The findings also provide a new approach to improve the diagnosis of epilepsy, for which a genetic cause cannot be found in about 50 % of individuals with the condition.

Baylor College of Medicine’s Human Genome Sequencing Center will serve as the clinical sequencing center for the new Population Genomic Screening Network...

Researchers have uncovered a novel biological pathway that can lead to seizures when disrupted. The findings also provide a new approach to improve...

Bacteria send protein packages to dormant neighbors to endure antibiotic attack

The findings help explain why some bacteria are hard to eliminate and suggest potential future approaches to improve antibiotic effectiveness.

Bacteria can pass proteins between themselves, which induces a dormant state that helps a small group of them survive antibiotics, revealing a path to better antibiotics.

Thymidine kinase 2 deficiency (TK2d) (MIM 609560) is an ultra-rare, autosomal recessive mitochondrial myopathy caused by <i>TK2</i> variants, leading to mitochondrial DNA depletion and/or multiple del...