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Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein.
Dauber A, Lafranchi SH, Maliga Z, et al. Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. J Clin Endocrinol Metab. 2012;97(11):E2140-51. doi:10.1210/jc.2012-2150DOIPubMedGoogle Scholar
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Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder.
Dauber A, Stoler J, Hechter E, Safer J, Hirschhorn JN. Whole exome sequencing reveals a novel mutation in CUL7 in a patient with an undiagnosed growth disorder. J Pediatr. 2013;162(1):202-4.e1. doi:10.1016/j.jpeds.2012.07.055DOIPubMedGoogle Scholar
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A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency.
Batey L, Moon JE, Yu Y, et al. A novel deletion of IGF1 in a patient with idiopathic short stature provides insight Into IGF1 haploinsufficiency. J Clin Endocrinol Metab. 2014;99(1):E153-9. doi:10.1210/jc.2013-3106DOIPubMedGoogle Scholar
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De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature.
Yu Y, Yao R, Wang L, et al. De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature. BMC Genomics. 2015;16:701. doi:10.1186/s12864-015-1898-1DOIPubMedGoogle Scholar
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In March of 2020, Broad Institute converted a clinical genetics processing lab into a large-scale COVID-19 testing facility in less than two weeks.

We've screened more than 1,275 cancer cell lines as part of the Cancer Dependency Map (DepMap).

Broad Genomics Platform sequences a whole human genome every four minutes.

More than 11,000 individuals living with cancer in the United States and Canada have partnered with Count Me In to share their experiences and help accelerate cancer research.

The Drug Repurposing Hub is one of the most comprehensive and up-to-date biologically annotated collections of FDA-approved compounds in the world. Researchers anywhere can explore more than 6,000 drugs in the hub and search for possible new uses for them to jump-start new drug discovery.

In 2021, our sustainability efforts sent more than 80 percent of waste from the Genomics Platform to either a recycling facility or to an incineration plant that generates electricity.

Through Broad's Scientists in the Classroom program, Broad researchers visit every 8th grade classroom in Cambridge each year to talk about genetics and evolution.

Every summer, 18 high school students spend six weeks at Broad working side-by-side with mentors on cutting-edge research.

In November 2022, Broad’s Genomics Platform sequenced its 500,000th whole human genome, a mere four years after sequencing its 100,000th.

By the end of 2022, Broad’s COVID-19 testing lab had processed more than 37 million tests.

Working with Addgene, Broad Institute has shared CRISPR genome-editing reagents with researchers at more than 3,200 institutions in 76 countries.

The NeuroGAP-Psychosis project, a collaboration between the Stanley Center for Psychiatric Research and Harvard T.H. Chan School of Public Health to study the genetics of severe mental illness, has recruited more than 42,000 participants in Ethiopia, Kenya, Uganda, and South Africa.

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