UW Medicine joins new National Institutes of Health effort on rare genetic conditions

Saturday, July 17, 2021

Mendelian genomics at UW - photo by Chris Frazar

UW Medicine has been selected as one of five leading genome sciences centers nationwide that will collaborate in a Mendelian Genomics Research Consortium. 

The National Human Genome Research Institute at the National Institutes of Health announced the formation and funding for the consortium today.

The researchers will deploy innovative methods to try to find the genetic causes of unsolved Mendelian conditions. These conditions are suspected as being the result of as yet undiscovered changes to or mutations in genes, or perhaps other alterations in the genome.

More than 400 million people worldwide have been diagnosed with one of more than 7,000 Mendelian conditions. A few examples of Mendelian conditions in which the genetic basis has already been determined are cystic fibrosis, hemophilia, sickle cell anemia, muscular dystrophy, color blindness and Tay Sachs disease.
But there are many more disorders --at least 3,000-- for which answering questions for patients, families and their clinicians still requires discovery of the underlying gene.

“Millions of people are born with rare diseases with unknown causes. Rare diseases are impactful in terms of the overall health of an individual,” said Deborah A. Nickerson, professor of medicine, who will head the newly funded Mendelian genomics research program at the University of Washington School of Medicine. 

 Co-principal investigators are Evan Eichler, professor of genome sciences at the UW medical school, and Dr. Michael Bamshad, professor of pediatrics who practices at Seattle Children’s Hospital.

Their team has already made many contributions to Mendelian genomics over the past several years by advancing sequencing technology and data interpretation methods to examine the whole or parts of the human genome. Their previous discoveries have provided immediate, substantial benefits for diagnostics and patient care.


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