Stem cells help researchers create more complete genomic picture of difficult-to-study part of the brain involved in many key functions.

The National Organization for Rare Disorders announced 31 centers to achieve better outcomes for all members of the rare disease community.

CHOP was one of the first sites to assess a new form of whole genome sequencing.

Mitochondria are not "properly recycled" in some cases, and this may serve as a potential target for future therapeutic interventions.

The Mitochondria and Cancer Connections (MC²) Research Program will study how cancer cells find the energy to grow and ways to prevent their return.

Trisomy 21 Program staff provide details on the joys and challenges of raising a child with Down syndrome to help genetic counselors better prepare families.

Outcome measurements revealed information about muscle weakness and differences between pediatric and adult patients.

The findings also show that some of these genetic markers are shared with autism spectrum disorder, suggesting a possible connection.

New findings set stage for future targeted therapies for patients with 22q11.2 deletion syndrome, who are 25 times more likely to develop schizophrenia.

Study is first to demonstrate how one specific combinational therapy may provide measurable benefits to patients with mitochondrial respiratory chain disorders, which currently lack FDA-approved therapies.