Marcella Devoto, PhD; Judith Kelsen, MD; and colleagues are using technologies like whole exome sequencing to uncover the genetic basis of very early onset inflammatory bowel disease.
For more than two decades, mutations in a gene located in the DNA of mitochondria have been classified as a mitochondrial disease and linked to a particular set of symptoms. However, according to new findings from researchers at Children's Hospital of Philadelphia (CHOP), mutations in this gene, which encodes an essential part of the mitochondrial motor known as ATP synthase that generates cellular energy, are much more variable than previously thought.
The Kids First Data Resource Portal brings together six institutions, thousands of patients' data, and investigators studying rare disease to one centralized place: the cloud.
This week in research news: teasing out genetic clues across the skeleton, a "missing mutation" in infant epilepsy, and studying soy-based baby formulas.
