11:10am Wednesday 23 October 2019

Baylor College of Medicine, Johns Hopkins team to identify single-gene diseases

The Baylor-Johns Hopkins Center for Mendelian Genetics will be led by principal investigator Dr. David Valle, director of the McKusick-Nathans Institute of Genetics at Johns Hopkins University, and co-investigator Dr. James R. Lupski, vice chair of molecular and human genetics at Baylor and a medical geneticist at Texas Children’s Hospital. The grant represents a new direction for the National Human Genome Research Institute, which is intensifying its focus on medical applications of the genome sequencing efforts.

The agency is continuing to fund the development and scientific implementation of genome sequencing efforts, and the Baylor Human Genome Sequencing Center will receive $21.3 million per year for four years in a renewal of its funding. The Genome Institute at Washington University in St. Louis and the Broad Institute in Cambridge, Mass., — the other three major sequencing centers in the United States – received renewed funding as well. See NIH renews designation of Baylor College of Medicine genome center.

International collaboration

Along with the newly funded Center for Mendelian Genomics at the University of Washington in Seattle and the Center for Mendelian Disorders at Yale University in New Haven, Conn., the Baylor-Johns Hopkins group will seek the genetic cause of the more than 3,000 genetic disorders for which no cause has been identified.

The centers will collaborate with an international network of rare disease experts to gather samples from thousands of patients and families from around the world who are affected by these disorders and to sequence their genomes in order to identify the responsible genetic variants. The centers have already started asking for samples from researchers studying these disorders.

“We expect that the knowledge about genetic variants that underlie Mendelian disorders will facilitate rapid and accurate diagnosis and might lead to new therapeutic approaches,” said Dr. Lu Wang, NHGRI program director for the Mendelian Disorders Genome Centers Program.

“This knowledge can also shed light on more common, complex diseases that involve similar genes, pathways and phenotypes, and contribute to the understanding of basic human genetics.”

The centers plan to join the International Rare Disease Research Consortium, whose goal is to develop diagnoses of most rare diseases and treatments for about 200 disorders by 2020.

“This center benefits from the interaction of two of the foremost medical genetics programs in the world, and I am so pleased to have this opportunity” said Lupski.

Web-based interface

The synergy includes the Online Mendelian Inheritance in Man database at Johns Hopkins, the experience of the Human Genome Sequencing Center at BCM and the Center for Inherited Disease Research at Johns Hopkins as well as the immediate availability of samples from many disease cases clinically evaluated at Hopkins and Baylor, he said.

As part of the program, the center will develop a web-based interface to integrate with the Online Mendelian Inheritance in Man that will be accessible to investigators and physicians around the world, to display all “unsolved” disorders and to serve as the hub for recruitment of families and tracking progress of all projects.

The researchers plan to obtain high quality DNA from each case and store white cells from people with disease that may be used in future studies of the function of genes.

Database of signs, symptoms

They will also set up a special committee to develop a database of signs and symptoms of the disorders, evaluate the diagnosis and mode of inheritance in all submitted patients and families. Another committee will work with this one to establish a priority for samples for sequencing and to evaluate possible genes variants involved in the disorder.

The work will also include processing of samples and the facilities of the Baylor Human Genome Sequencing Center and the Johns Hopkins Center for Inherited Disease research to perform whole exome sequencing on thousands of samples over the four-year period. (The exome is the part of the genome or genetic blueprint that is the code for producing proteins.) As part of this work, the center will work to improve the technology involved.

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