House Appropriations Committee Ranking Member Rosa DeLauro (D-CT-03) has learned that officials at the Department of Defense (DoD) are working to divert billions of dollars from the National Institute...

Pilarowski-Björnsson syndrome (PILBOS) is a neurodevelopmental disorder caused by pathogenic variants in CHD1. Here, we characterize a large PILBOS cohort and describe their variants. Using a patient-specific mouse model, we demonstrate that androgens protect against CHD1 deficiency, suggesting a mechanism for sex-specific penetrance in an autosomal disorder.

The Trump White House needed me—until the fact that I am trans became public.

The Mendelian disorders of the Epigenetic Machinery (MDEMs), or Chromatinopathies, are now understood to be a collectively common cause of childhood neurodevelopmental delays and intellectual disab...

Determining de novo status is often what upgrades a variant from VUS to pathogenic, but it has not been possible without sequencing both biological parents. We developed, extensively evaluated, and ap...

YouTube video by Bruce Springsteen

An AI agent ran a snack operation in the WSJ newsroom. It gave away a free PlayStation, ordered a live fish—and taught us lessons about the future of AI.

John Quackenbush built a lab that is at the forefront of human genetics research and bioinformatics. Trump administration cuts have put it in danger of collapse.

The Bioconductor project aims to develop and share open source software for precise and repeatable analysis of biological data. We foster an inclusive and collaborative community of developers and…

A little about us:The Lieber Institute for Brain Development (LIBD) was established in 2010 to plot a new course in biomedical research that would change the lives of individuals affected with develop...

ALT: a close up of a young man 's face with headphones on .

While de novo variants cause many Mendelian disorders, their detection currently requires sequencing of the proband and both biological parents. This is not feasible when only one parent is available,...

Expression quantitative trait locus (eQTL) studies in human cohorts typically detect at least one regulatory signal per gene, and have been proposed as a way to explain mechanisms of genetic liability...