Baylor College of Medicine centers will play major roles in newly announced National Human Genome Research Institute DNA sequencing programs designed to understand the genomics of both common and rare diseases.

Baylor College of Medicine’s Human Genome Sequencing Center was named one of four Centers for Common Disease Genomics. The center, under the leadership of Dr. Richard Gibbs, will receive a four-year $60 million grant to focus on the genomics of heart and blood vessel and metabolic diseases as well as neuropsychiatric disorders.

“2016 marks the 20th year since the inception of the Human Genome Sequencing Center and its continuing funding by the NHGRI,” said Gibbs. “We will continue the push to translate genomic discovery into medicine.”

The Human Genome Sequencing Center is co-led by Dr. Eric Boerwinkle, an international expert in the analysis of DNA sequence variation and the genetics of cardiovascular diseases.

“This is a real feather in the cap of Houston and the Texas Medical Center and documents benefits of close inter-institutional collaboration for continued excellence within the Texas Medical Center,” said Boerwinkle, who is the Kozmetsky Family Chair of Human Genetics and dean at The University of Texas Health Science Center at Houston School of Public Health.

Dr. James R. Lupski, professor of molecular and human genetics and of pediatrics at Baylor, who is also with Texas Children’s Hospital, will lead a Baylor College of Medicine program as one of the Genome Institute’s Centers for Mendelian Genetics to solve cases of rare diseases. The Baylor-Hopkins Center for Mendelian Genomics is a collaborative $11.6 million, four year program together with the Johns Hopkins University and UTHealth. Since 2011, researchers in that group have worked with the Human Genome Sequencing Center to sequence more than 5,000 families with different rare Mendelian diseases and analyzed the protein-coding portions of more than 20,000 human genomes and identified over 740 genes that are the likely causes of Mendelian diseases.  

“In this next phase we will work closely with the new Baylor Miraca Genetics Laboratories to analyze unsolved clinical cases of genetic disease and further apply our work on structural variation mutagenesis of the human genome,” said Lupski.

Dr. Suzanne Leal, director of Baylor’s Center for Statistical Genetics, will also contribute to the Genome Institute’s Mendelian Disease program via a collaboration with scientists from the University of Washington who received a $12 million, four-year grant. They also aim to identify and understand rare genetic diseases and will emphasize those that stem from changes in the structure of the genome.

“Building upon our prior achievements in finding the novel cause of more than 400 Mendelian conditions, the University of Washington Center for Mendelian Genomics, led by Drs. Michael Bamshad, Deborah Nickerson and myself, will continue to apply highly successful methodologies to identify the genetic etiology of a large number of Mendelian disorders and create new approaches to share data with scientists and families, thereby fueling gene discoveries,” said Leal.

Pending available funds, NHGRI will provide approximately $240 million over four years to the four Centers for Common Disease Genomics. The National Heart, Lung, and Blood Institute (NHLBI) will provide an additional $20 million. In addition to Baylor College of Medicine, the Centers include Washington University in St. Louis, Broad Institute of MIT and Harvard and New York Genome Center.

NHGRI, pending available funds, will provide $40 million to support the Center for Mendelian Genomics program. In addition, NHLBI and the National Eye Institute will provide $8 million and $1 million in funding, respectively.

In addition to Baylor College of Medicine and collaborators, other institutions funded for the Center for Mendelian Genomics programs include Broad Institute of MIT and Harvard and Yale University.