San Diego—Jan. 3, 2018 – The Rady Children’s Institute for Genomic Medicine (RCIGM) is pleased to announce that six influential life science researchers have been recruited to serve on the Institute’s inaugural Scientific Advisory Board (SAB).
“Each of these brilliant scientists is an authority in their respective field,” said Dr. Stephen Kingsmore, president and CEO of the Institute. “By sharing their expertise and leadership with us, they will play a vital role in helping to calibrate our goals and oversee our progress in advancing pediatric genomic medicine.”
RCIGM was founded with the mission of enabling diagnosis, treatment and targeted clinical care for newborns and children with rare, life-threatening diseases. The Institute is focused on delivering exact diagnoses through rapid Whole Genome Sequencing (rWGS) to facilitate fast, precise medical care of the most fragile young patients.
“Since the inception of the Institute we have sought to assemble the talent, technology and resources to transform healthcare for children in San Diego and around the world,” said David F. Hale, chair of the Institute board of directors. “By welcoming these prominent researchers to our Scientific Advisory Board, we take a major step toward fulfilling that vision.”
The members of the SAB bring deep research expertise in cancer, molecular biology, genetics, neuroscience, biomedical informatics and biomedical engineering. All are recipients of national science academic honors and they include a Nobel Laureate and heads of renown research institutes. To ensure objectivity, none have ties to the Institute or Rady Children’s Hospital-San Diego.
The Institute began genomic sequencing in July 2016. As of the end of November 2017, the team had completed testing and interpretation of the genomes of more than 240 children enrolled in its research studies. More than one-third of the patients have received a genomic diagnosis with more than 65 percent of those benefiting from an immediate change in clinical care.
Currently, rWGS is being offered only to patients at Rady Children’s Hospital-San Diego and patients at children’s hospitals participating in RCIGM’s research studies. Earlier this year, the Institute began providing testing services for Children’s Hospital of Orange County and Children’s Minnesota.
The external Scientific Advisory Board has been established to provide objective evaluation and guidance to the Institute with respect to its scientific direction and activities. The six members of the SAB are as follows:
1. James R. Downing, M.D., Chair
President and Chief Executive Officer
St. Jude Children’s Research Hospital
An expert in molecular diagnostics and leading pediatric cancer researcher, he was instrumental in launching the Pediatric Cancer Genome Project which has sequenced the genomes of more than 800 young cancer patients.
2. Elizabeth Blackburn, Ph.D.
President
Salk Institute for Biological Studies
She won the Nobel Prize in Physiology or Medicine in 2009 for discovering the molecular nature of telomeres, the ends of chromosomes that serve as protective caps essential for preserving genetic information, and for co-discovering telomerase, an enzyme that maintains telomere ends.
3. George Church, Ph.D.
Professor
The Wyss Institute at Harvard University
He co-initiated the BRAIN Initiative and Genome Projects to provide and interpret the world’s only open-access personal precision medicine data. His innovations in synthetic biology have been the basis for launching several companies.
4. Cato T. Laurencin, M.D., Ph.D.
University Professor and Van Dusen Distinguished Professor
The University of Connecticut
An orthopedic surgeon and biochemical engineer, he has pioneered regenerative engineering science for the creation of knee and shoulder issues. He is the recipient of the National Media of Technology and Innovation, our nation’s highest honor for technological achievement, awarded by the White House.
5. Thomas R. Insel, M.D.
Former Director of the National Institute of Mental Health at the National Institutes of Health
Former Director of Mental Health Research, Verily Life Sciences.
President, Mindstrong Health
He is a neuroscientist and psychiatrist. While at NIH he launched the Research Domain Criteria Project to transform diagnostics and led an overhaul of the clinical trials program to focus on targets and mechanisms.
6. Isaac Kohane, M.D., Ph.D.
Professor and Chair, Department of Biomedical Informatics, Harvard Medical School
Professor of Pediatrics, Boston Children’s Hospital
He develops and applies computational techniques to address disease at multiple scales—from whole healthcare systems as “living laboratories” to the functional genomics of neurodevelopment with a focus on autism.