The Division of Genetics and Genomics at Boston Children’s Hospital has discovery and innovation built into its DNA. Our goal is to uncover the underlying genetics and mechanisms of inherited disorders and use our scientific discoveries to provide the best possible care to our patients.
In addition to technical capabilities, our diverse populations of patients with genetic disorders, bioinformatics expertise, tissue banks and animal models all contribute to a fast pace of discovery.
Clinical Genetics and Genomics
Our DNA Diagnostic Laboratory, which is certified by the Clinical Laboratory Improvement Amendments (CLIA), offers more than 100 clinical-grade genetic tests, many of them developed at Boston Children’s. Specialist physicians and medical genomics experts at the hospital provide consultations and sophisticated clinical interpretation of test results.
Through Claritas Genomics, a new company majority-owned by Boston Children’s, we have broad access to next-generation, genetic and genomics-based diagnostic testing solutions using advanced instrumentation, software and bioinformatics techniques.
Recognizing that genomic data by itself aren’t always relevant or useful out of context, Boston Children’s has led an international effort to establish best practices for safe, clinically useful genomic sequencing. In a challenge called CLARITY, hosted by the hospital, research groups from around the world competed to interpret the genomes of three families with unexplained genetic diseases.
Discoveries from fish: Genetics faculty member Alan Beggs, PhD, undergraduate student Stacey Gundry and postdoctoral fellow Vendana Gupta, PhD, use zebrafish to study muscle weakness. To learn more, visit our Genetics/Genomics Stories and Manton Center pages.
The Research Connection was created to facilitate research, encourage collaboration and enhance the research experience for patients and families. The Connection includes the Boston Children’s Biorepository and the Gene Partnership, facilitating a direct path from sample collection to personalized research results. Read more.
The Manton Center for Orphan Disease Research
Founded in 2008, the Manton Center is the first center in the world solely devoted to the study of rare diseases. Senior scientists in residence specialize in a wide range of areas including metabolic, neuromuscular, neurologic and immune disorders. Read more.
- Genetic testing for autism and cognitive disabilities - Based on our own research, we now offer chromosomal microarray analysis for the genetic diagnosis of autism and developmental delay. An RNA-based test that examines gene expression signatures is currently being evaluated in a clinical trial.
- A better test for galactosemia - Gerard Berry, MD, introduces a more sensitive test for galactosemia that can be used for routine newborn screening.
- Searching for strength: One gene at time - In this interactive, Alan Beggs, PhD, explains how the loss of critical genes leads to muscle weakness in patients with nemaline myopathy.