Dehydrodolichyl diphosphate synthase (DHDSS)-related disease has no available treatments. The new work could finally change that with nicotinamide mononucleotide (NMN).

Nature - Genome-wide association studies incorporating data for populations of African ancestry provide an expanded view of the genetic basis of schizophrenia, which has previously been studied...

YouTube video by Mount Sinai Genetics and Genomic Sciences

At-home tests of the gut's microbiome are trending, but doctors say the technology is getting ahead of medical knowledge.

YouTube video by Mount Sinai Genetics and Genomic Sciences

Primary mitochondrial diseases are a heterogeneous group of disorders caused by impaired mitochondrial respiratory chain function due to pathogenic va…

KJ Muldoon became the first patient to undergo personalized CRISPR treatment, a therapy that found the one uniquely mutated gene out of 20,000 in his little body, and fixed it.

Acid sphingomyelinase deficiency (ASMD) is a lysosomal storage disease with multisystem complications including neurodegeneration, hepatosplenomegaly,…

Friday is Rare Disease Day, raising awareness for millions of people living with rare and difficult to diagnose conditions. CBS News New York's Michael George shows us a new effort to finally give som...

YouTube video by Icahn School of Medicine

Download, watch, read, or listen to this podcast conversation

New research pinpoints 298 parts of the genome associated with higher risk of bipolar disorder. This could lead to better treatments.

Using multi-ancestry genome-wide association study and fine-mapping, 298 loci and 36 credible genes are identified in the aetiology of bipolar disorder.

PhosNetVis is a web-based platform designed to infer kinases and visualize kinase-substrate interaction (KSI) networks from phosphoproteomics data. It enables users to generate, interactively explore,...