Improving the Diagnostic Odyssey for Rare Disease Patients

Nelly Ganesan, MPH, advises clients on the implications of quality-related healthcare policies, including but not limited to public and private quality reporting programs, value-based care, and payment and delivery models. Nelly has special expertise in care models focused on CMS’ Triple Aim—better care, better health, and lower costs—and the use of patient-reported outcomes. Nelly has been with the firm since 2011. Prior to joining Avalere, Nelly spent 6 years at the Institute for Healthcare Improvement, focused on population health and hospital-based quality improvement. Nelly has an MPH in epidemiology and international health from Boston University and a BS in economics from the University of Oregon.

Contact: nganesan@avalere.com

Linda Goler Blount, MPH, joined the Black Women’s Health Imperative as the president and chief executive officer in February 2014. As president and CEO, Linda oversees the strategic direction for the Imperative and is responsible for moving the organization forward in its mission to achieve health equity, as well as reproductive justice for Black women. Before joining the Imperative, Linda served as the vice president of programmatic impact for the United Way of Greater Atlanta, where she led the effort to eliminate inequalities in health, income, education and housing through place- and population‐based work. Prior to that position, Linda was the first‐ever national vice president of health disparities at the American Cancer Society. There, she was responsible for providing strategic vision and leadership to the Society and its 12 geographic divisions to reduce cancer incidence and mortality among underserved populations and to develop a nationwide health equity policy. With more than 25 years of experience in the public, for‐profit and nonprofit sectors, Linda has a distinguished career that includes successful tenures at The Coca‐Cola Company, leading strategic business initiatives, and the U.S. Centers for Disease Control and Prevention, as an expert scientist. She also has extensive international health expertise and has served as a consultant to government ministries in Germany, South Africa, Zimbabwe, Malawi, Jamaica, and Trinidad and Tobago, where she lived for four years. Linda is a sought‐after speaker and a member of the American Public Health Association and the National Association of Health Services Executives. She serves on the Community Health Charities Board, the University of Michigan School of Public Health Summer Enrichment Program Board and is past chair of the University of Michigan School of Public Health Alumni Board of Governors. She previously served on the Emory University Center for Ethics Advisory Board, and the Morehouse School of Medicine Public Health Program Advisory Committee. A Michigan native, Linda holds a Master of Public Health degree in Epidemiology from the University of Michigan and a Bachelor of Science in Computer Engineering/Operations Research from Eastern Michigan University.

Contact: tboyd@bwhi.org

Stephen F. Kingsmore, MD, DSc, was appointed as the inaugural President and CEO of the Rady Children’s Institute for Genomic Medicine in September 2015. Previously he was the Dee Lyons/Missouri Endowed Chair in Genomic Medicine at the University of Missouri-Kansas City School of Medicine and Director of the Center for Pediatric Genomic Medicine at Children’s Mercy Hospital, Kansas City. He has been the President and CEO of the National Center for Genome Resources, Santa Fe, New Mexico, Chief Operating Officer of Molecular Staging Inc., Vice President of Research at CuraGen Corporation, founder of GatorGen, and Assistant Professor at the University of Florida’s School of Medicine. Dr. Kingsmore received MB ChB BAO BSc and DSc degrees from the Queen’s University of Belfast. He trained in clinical immunology in Northern Ireland and did residency in internal medicine and fellowship in rheumatology at Duke University Medical Center. He is a fellow of the Royal College of Pathologists. He was a MedScape Physician of the year in 2012, and received the 2013 Scripps Genomic Medicine award and 2013 ILCHUN prize of the Korean Society for Biochemistry and Molecular Biology. TIME magazine ranked his rapid genome diagnosis one of the top 10 medical breakthroughs of 2012. In March of 2015, Dr. Kingsmore surpassed his previous record in genetic sequencing by reducing the process to 26 hours which was recognized in April 2016 by Guinness World Record as the fastest genetic sequencing in the world.

Contact: skingsmore@rchsd.org

Since 2017, Matt Might, Ph.D., has served as Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham (UAB). At UAB, Matt is the Hugh Kaul Endowed Chair of Precision Medicine, a Professor of Internal Medicine and a Professor of Computer Science. At UAB, Dr. Might’s NIH and philanthropically funded research focuses on precision prevention, diagnosis and therapeutics across rare disease, cancer and common/chronic conditions. A principal theme in his research is the use of computer and data science to enhance clinical and academic medicine. From 2016 to 2018, Dr. Might was a Strategist in the Executive Office of the President in The White House. At The White House, Dr. Might worked primarily on President Obama’s Precision Medicine Initiative with both the NIH and the Department of Veterans Affairs. Prior to this role, Dr. Might was a faculty member in the Department of Biomedical Informatics at the Harvard Medical School. At Harvard, Dr. Might’s research focuses on rare disease discovery and diagnosis, and on the development of personalized therapeutics for rare disease. Dr. Might’s journey from computer science to medicine has been inspired by his son Bertrand. In 2012, Bertrand became the first patient in the world to be diagnosed with NGLY1 deficiency, and this inspired Dr. Might to use social media to discover other patients and form a community. Through the community’s efforts in science, two therapeutics for NGLY1 deficiency have been identified since its discovery, and more are under active development. Dr. Might is co-founder and Chief Scientific Officer of NGLY1.org, a non-profit dedicated to finding treatments for NGLY1 deficiency, and he is a co-founder and Scientific Advisor to Pairnomix, a start-up which identifies potential patient-specific therapies for rare disorders — and genetic epilepsies in particular.

Contact: might@uab.edu


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