‘Orion,’ a technique developed by Columbia University scientists and their colleagues, will help researchers identify disease-causing mutations in patients when current methods come up dry.
The Institute for Genomic Medicine and the Department of Pathology and Cell Biology are pleased to announce the formation of a new initiative designed to enhance constitutional genomic diagnostics, research, and education at Columbia University Medical Center.
Genes that cause MacTel–a rare disease of the retina–remain elusive, but a new study from an international team of researchers has narrowed the search. The researchers combed through the genomes of more than 450 patients and identified five small regions of the genome where MacTel genes are likely to reside.
“We’re asking, can we tackle the problem of aging by maintaining stem cell function?” said Emmanuelle Passegué, Ph.D., the new director of the Columbia Stem Cell Initiative.
An international study led by Columbia University Medical Center and NewYork-Presbyterian has found that several genes previously implicated only in rare, severe forms of pediatric epilepsy also contribute to common forms of the disorder.