Genetics and Genomics | Research & Innovation

Rapid technological advances in genetics and genomics are allowing our researchers to find extremely subtle mutations affecting just small a fraction of the body’s cells; unusual, one-of-a-kind mutations; and mutations in the genome’s “dark matter” — genetic code that regulates the expression of other genes. Tools we use include:

• Whole-genome and whole-exome sequencing
• High-coverage sequencing
• RNA sequencing
• Single-cell DNA and RNA sequencing
• Genome-wide association studies (GWAS)
• Chromosomal microarray analysis
• Genetic screening using CRISPR/Cas9 gene editing
• Gene expression studies

Bioinformatics expertise, tissue banks, stem cell models, and animal models all contribute to a fast pace of discovery. We often collaborate with academic partners and with industry on clinical and preclinical investigations.

We often collaborate with academic partners and with industry on clinical and preclinical investigations. These advances are helping us solve patients’ diagnostic mysteries, We often collaborate with academic partners and with industry on clinical and preclinical investigations. 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 team is investigating a variety of genetic therapies. Our many initiatives include sequencing the genomes of newborns; pharmacogenomics, using genetic to better choose medications; and in-depth studies on rare conditions in our Manton Center for Orphan Disease Research. We are also proud to be part of the National Institutes of Health's Undiagnosed Diseases Network as part of the Harvard Clinical Site.