genetics

medicine

UCLA Health collaborates with Regeneron Genetics Center to bring genomic medicine to patients

UCLA Health has entered into a collaborative research agreement with the Regeneron Genetics Center (RGC) to provide whole exome sequencing for 150,000 UCLA Health patients. Led by the UCLA Institute for Precision Health (IPH), this initiative is set to become one of the largest and most comprehensive in the nation and is a key step in bringing genomic medicine to patients across California.

We’ve talked for some time about the promise of precision medicine – a time when preventive measures and targeted treatments can be individualized to each patient’s genetic makeup. This is a watershed moment in that timeline, a big step toward that reality and a turning point in our research dedicated to changing the way future health care will be delivered for our patients and our community.”


Dr. Daniel Geschwind, Gordon and Virginia MacDonald distinguished professor, senior associate dean and associate vice chancellor of Precision Health

The new exome-sequencing collaboration builds on genotyping work underway with the UCLA ATLAS Community Health Initiative – a large collection of diverse patient blood, saliva and tissue samples being analyzed to help UCLA researchers and clinicians develop and deliver the best care possible. Genotyping, which is targeted to a specific place in the DNA, looks for a predefined set of variants, but whole exome sequencing – like that being performed through the new RGC collaboration – analyzes thousands of protein-coding genes and can provide information on many more potential mutations. Using a needle and haystack analogy, genotyping looks for predetermined needles in a specific location, while exome sequencing searches more of the haystack to detect unexpected needles.

“All patients who participate in this research will be given the opportunity to opt in or out of having actionable results – those that could directly impact their clinical care – returned to them. All patient information and specimens used in the research are ‘de-identified’ to protect patient privacy and confidentiality. Actionable results, which are verified by a UCLA CLIA-certified laboratory, are only returned to those patients who specifically say they want them,” Dr. Geschwind said, adding that about 2% to 3% of tested patients are expected to have a result that will have immediate clinical implications.

The RGC, a wholly owned subsidiary of the science-focused biotechnology company Regeneron, has built one of the world’s largest genetics databases, pairing the sequenced exomes and de-identified electronic health records of more than 1 million people, through collaborations with nearly 100 global health care and academic institutions. Building upon Regeneron’s strengths in genetics-driven drug discovery, the information secured from this initiative will allow for the elucidation, on a large scale, of genetic factors that cause or influence a range of human diseases.

Three factors make this research effort particularly strong: the depth of UCLA Health’s patient care and research expertise; the ethnic diversity of Los Angeles and the Southern California region; and RGC’s leading genetics research, sequencing and analysis capabilities.

“Including diverse populations is critical to

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medicine

Mount Sinai doctors elected to National Academy of Medicine for contributions to emergency medicine and translational genetics

Brendan G. Carr, MD, MA, MS, Chair of Emergency Medicine for the Icahn School of Medicine at Mount Sinai and the Mount Sinai Health System, and Judy H. Cho, MD, Dean of Translational Genetics at the Icahn School of Medicine at Mount Sinai and Director of The Charles Bronfman Institute for Personalized Medicine, have been elected to the National Academy of Medicine (NAM). Election to the NAM is considered one of the highest honors in health and medicine, recognizing individuals who have demonstrated outstanding professional achievement and commitment to service. With their election, Mount Sinai has 25 faculty members in the NAM.

“The recognitions of Dr. Carr and Dr. Cho are well deserved for their groundbreaking contributions to emergency medicine and translational genetics,” says Dennis S. Charney, MD, Anne and Joel Ehrenkranz Dean of the Icahn School of Medicine at Mount Sinai. “Dr. Carr’s research has focused not only on improving the emergency care system for time-sensitive conditions such as trauma, stroke, cardiac arrest, and sepsis, but also on creating a more distributed and innovative approach to increasing access to acute care. Likewise, Dr. Cho is committed to improving care through personalized medicine and the understanding of each patient’s unique genes. She has enhanced genetic research, clinical implementation, and data platforms to ensure Mount Sinai remains at the forefront of genetic discoveries and implementation.”

Emergency Medicine

A leading voice in emergency medicine, Dr. Carr played a central role in coordinating Mount Sinai’s response to the COVID-19 pandemic. He has dedicated his career as an emergency medicine physician and health policy researcher to seamlessly combining research, policy, and practice to advance acute care delivery. Before joining Mount Sinai in February 2020, Dr. Carr held faculty positions at the Sidney Kimmel Medical College at Thomas Jefferson University and the Perelman School of Medicine at the University of Pennsylvania.

Outside academia, Dr. Carr has worked within the U.S. Department of Health and Human Services during both the current and previous administrations to improve trauma and emergency care services at the national level. His roles have included Senior Advisor and Director of the Emergency Care Coordination Center within the Office of the Assistant Secretary for Preparedness and Response, focusing on integrating the emergency care system into the broader health care delivery system. He previously supported the Indian Health Service’s initiatives to improve emergency care delivery, and worked with the Department of Veterans Affairs and the Department of Defense to integrate military and civilian health care response during disasters and public health emergencies. Dr. Carr has advised and supported major not-for-profit foundations, the World Health Organization, and the National Academy of Medicine.

He conducts health services research that connects disciplines including epidemiology, health care policy, business, economics, and health care delivery system science. His work has been continuously funded by the National Institutes of Health, the Centers for Disease Control and Prevention, and the Agency for Healthcare Research and Quality. He has published and lectured widely on systems of care for trauma, stroke, cardiac

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