Division of Genetics and Genomics Research and Innovation

The Division of Genetics and Genomics at Boston Children’s Hospital has discovery and innovation built into its DNA. Our Clinical Genetics Program and research laboratories work closely together to find the underlying causes of inherited disorders and to use this knowledge to provide better care and counseling.

Rapid technological advances in genetics and genomics are allowing our researchers to find extremely subtle mutations—some affecting as few as 10 percent of the body’s cells—and to spot differences in gene activity that may contribute to disease.

These advances are helping us solve patients’ diagnostic mysteries, understand disease biology and find new treatments—sometimes ones that wouldn’t otherwise be considered. Today, it’s truly possible to go from genetic discovery to clinical trial within a decade.

Our initiatives range from a study sequencing the genomes of newborns to in-depth rare-disease research at our Manton Center for Orphan Disease Research to an international contest seeking the best practices for providing DNA sequencing results to doctors, patients and families.

Families can help further genetic discovery too! Ask your geneticist or genetic counselor if there are any studies you or your child might be eligible to join, or visit our Clinical Studies page.

For more about our research and innovations, visit our Genetics and Genomics Research site or Roya Kabuki Program.