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Clinical Sites

Baylor College of Medicine

Located in Houston, TX, the Baylor College of Medicine clinical site is based within the Department of Molecular and Human Genetics, the largest genetics department in the world and leader in NIH funding in genetics.

Pl: Brendan Lee

Grant #: 5U01HG007709-02

Duke University Health System with Columbia University Medical Center

The medical programs at both of these universities have extensive experience using state of the art technology to conduct genomic sequencing and identify potential causes of undiagnosed conditions.

PIs: Vandana Shashi, David Goldstein

Grant #: 5U01HG007672-02

Site website: dumcudn.org

Harvard Affiliate Hospitals

Composed of three local hospitals in Boston, MA, this center taps into Brigham and Women’s expertise in cardiac genetics, Boston Children’s knowledge of neurogenetics and rare diseases, and Massachusetts General’s interdisciplinary care.

PI: Joseph Loscalzo

Grant #: 5U01HG007690-02

Site website: bostonudn.org

National Institutes of Health

The National Institutes of Health (NIH) clinical site is backed by two sections of the nation’s primary medical research agency: the NIH Clinical Center, the largest hospital in the world solely dedicated to clinical research, and the National Human Genome Research Institute.

PIs: William Gahl, Cynthia Tifft, David Adams, Camilo Toro

Grant #: 1ZIAHG000215-12

Grant #: 1ZIDHG200352-07

Stanford Medical Center

In 2014, Stanford received a $7.2 million dollar four-year grant from the NIH to fund a clinical site for the Undiagnosed Diseases Network. The grant is shared across a multidisciplinary team within the university.

PIs: Euan Ashley, Paul Graham Fisher, Jonathan Bernstein

Grant #: 5U01HG007708-02

Site website: undiagnosed.stanford.edu

University of California Los Angeles

This site is dedicated to transforming genetic data into a detailed understanding of the molecular origins and development of human disease by utilizing UCLA’s genetic medicine programs, which care for more than 750 new patients a year and offer counseling services.

PIs: Katrina Dipple, Stanley Nelson, Christina Palmer, Eric Vilain

Grant #: 5U01HG007703-02

Site website: genetics.ucla.edu/udn

Vanderbilt University Medical Center

Located in Nashville, TN, the Vanderbilt Center for Undiagnosed Diseases at Vanderbilt University Medical Center seeks to identify better diagnostic and treatment options by examining detailed family history, phenotyping, genotyping, and environmental exposures.

PIs: John Phillips III, John Newman, Rizwan Hamid

Grant #: 5U01HG007674-02

Site website: mc.vanderbilt.edu/undiagnosed

Additional Sites

Central Biorepository

Located in the Division of Medical Genetics and Genomic Medicine at Vanderbilt University Medical Center, this site serves as a centralized facility for secure storage, tracking and distribution of biological material collected during UDN studies.

PI: Joy Cogan

Grant #: 3U01HG007674-02S1

Coordinating Center

Located in the Department of Biomedical Informatics at Harvard Medical School in Boston, MA, the UDN Coordinating Center oversees many of the Network’s operations, including the online portal for patient applications.

PIs: Isaac Kohane, Alexa McCray

Grant #: 5U01HG007530-02

Metabolomics Core

This partnership between investigators from Pacific Northwest National Laboratory and Oregon Health & Science University offers a comprehensive array of analyses in order to generate a unique molecular profile for UDN participants.

PIs: Thomas Metz, David Koeller

Grant #: 1U01TR001395-01

Model Organisms Screening Center

A collaboration between Baylor College of Medicine and the University of Oregon, this center focuses on studying genes suspected to play a role in rare and undiagnosed genetic disorders.

PI: Hugo Bellen

Grant #: 1U54NS093793-01

DNA Sequencing Cores

Baylor College of Medicine

Baylor Genetics serves as one of the two sequencing cores for UDN. Clinical genome-wide sequencing has been offered at Baylor since 2011 and has now been performed on greater than 12,000 cases.

PI: Christine Eng

Grant #: 1U01HG007942-01

HudsonAlpha with Illumina

HudsonAlpha Institute for Biotechnology, in collaboration with Illumina, serves as the genome sequencing core for the UDN. Sequencing is performed on the Illumina HiSeq X Ten platform in the CAP/CLIA Clinical Services Lab, and HudsonAlpha’s in-house genomic analysis tool CODICEM is utilized for tertiary analysis.

PI: Liz Worthey

Grant #: 1U01HG007943-01