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Mendelian Exome Sequencing Project (Mendelian Exome)

Studies using next generation sequencing technologies have yielded surprising and important discoveries regarding the genetic bases of certain Mendelian diseases. However, there are hundreds of heart/lung/blood/sleep-related Mendelian disorders in the Online Mendelian Inheritance in Man (OMIM) database for which the genetic bases are still unknown. To accelerate genetic discovery of Mendelian disorders, the National Heart, Lung, and Blood Institute (NHLBI) released PAR-11-301 inviting applications to access the exome sequencing capacity of the Mendelian Disorders Genome Centers (co-funded by NHGRI andNHLBI). Awardees will provide DNA samples collected from patients with suspected Mendelian or monogenic disorders, and receive sequencing data to advance investigations of the genetic basis of Mendelian or monogenic disorders that significantly affect heart, lung, and blood (HLB) systems.

The Program Officers from NHLBI are Weiniu Gan, PhD, Deborah Applebaum-Bowden, PhD, Frank Evans, PhD, Jonathan Kaltman, MD, Cashell Jaquish, PhD, Dina Paltoo, PhD, Pankaj Qasba, PhD, and Charlene Schramm, PhD; and NHGRI Program Officer is Lu Wang, PhD.

Program Start and End Date

March 2012 to September 2015

Funding Opportunity Announcement (FOA)

PAR-11-307: Discovery of Genetic Basis of Mendelian or Monogenic Heart, Lung, and Blood Disorders (X01)


  1. University of Utah (Drs. Neile Bowles and Mark Leppert, X01HL115006-01)--Exome Analysis of a Large Cohort of Mendelian Congenital Heart Disease Families.
  2. University of North Carolina, Chapel Hill (Drs. Michael Knowles and Maimoona Zariwala, X01HL115246-01)--Whole-Exome Sequencing to Define the Genetic Basis of Unusual Forms of Primary Ciliary Dyskinesia.
  3. Brigham Women’s Hospital (Drs. Edwin Silverman and Michael Cho, X01HL115219-01)--Identifying Monogenic Determinants of Severe, Early-Onset COPD.
  4. Stanford University (Dr. Euan Ashley, X01HL115206-01)--The Genetic Basis of Mendelian Cardiovascular Diseases.

RFA-HG-10-016: Mendelian Disorders Genome Centers (U54)

University of Washington (contact PI: Dr. Deborah A. Nickerson).

Johns Hopkins School of Medicine (contact PI: Dr. David Valle)

Yale University School of Medicine (contact PI: Dr. Richard P. Lifton)

Last Updated May 2012

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