9:45 - 10:15 amFriday, September 25
Plenary Hall
Moderated Panel Discussion
Plenary Hall
Moderated Panel Discussion
Founder, Brave Bosom
Physician, University of Utah
Medicine X ePatient Scholar
Health Data Innovator, Senior Advisor White House OSTP, Former HHS Leader
Co-founder Personalis Inc, Stanford University
Medicine X ePatient Scholar

Andrea Downing is a BRCActivist. When she was 25 years old, she discovered that she has up to an 87% lifetime risk of having breast cancer and up to a 60% lifetime risk of ovarian cancer when she tested positive for a BRCA1 deleterious gene mutation. This mutation was passed from her great grandmother to her grandmother to her mother and now to Andrea. Her great grandmother and grandmother died because of this mutation, and her mother was diagnosed with Stage 3 Cancer in her early thirties.

This has been an exciting and turbulent year in the world of BRCA. In April, Andrea stood at the steps of the Supreme Court to tell her story as oral arguments were heard in Association of Molecular Pathology v. Myriad Genetics. This case made history when the right to patent human DNA was overturned 9-0 by the Supreme Court. Now she serves on the steering committee of a project called Free The Data.

Matt Might is passionate about patient-driven precision medicine, accelerating drug development in rare disease and bending the cost curve in medical research with computation and social media. He is an active advisor to the newly established Undiagnosed Disease Network Coordinating Center at Harvard University, and he is a working group member for the President's large-cohort precision medicine initiative.

Dr. Might is also the father of the first patient ever discovered with a novel ultra-rare disorder, N-glycanase (NGLY1) deficiency. Diagnosed via exome sequencing in 2012, NGLY1 deficiency is estimated to have an incidence of roughly 1 in 5 million live births.

After being told it would take years or even decades to discover a second case, Dr. Might applied his expertise as a professor in computer science to find more cases through social media. It took two months to find the second case. In parallel, Dr. Might launched a collaboration with glycobiologist Dr. Hudson Freeze to understand and ultimately treat the disorder.

Two and a half years and 25 confirmed cases later, what began with one child and one research lab has become a patient-driven precision medicine research network spanning the globe. The network is dedicated to understanding, treating and curing the disorder. Several potential treatments are now being tested and nearing clinical trials.

Seth Mnookin chronicled the family's journey to a diagnosis, their use of social media to find patients and the establishment of the patient-driven research network in The New Yorker.

Emily Kramer-Golinkoff wears many hats. She’s co-founder of Emily's Entourage, a nonprofit organization that raises funds and awareness to cure Cystic Fibrosis; she works in healthcare marketing at an academic medical center; and she is an active ePatient with advanced stage Cystic Fibrosis.

In 2011, Emily was named AbbVie’s Thriving Graduate Scholar and awarded a $19,000 scholarship. This spring, she served on the Communications Task Force of the Cystic Fibrosis Foundation’s strategic planning process.

Emily recently earned a master’s degree in bioethics and a certification in clinical ethics mediation from the University of Pennsylvania, where she also received her undergraduate degree.

Dr. Euan Ashley is an internationally recognized physician, scientist, and innovator. Dr. Ashley trained in clinical cardiology and advanced heart failure. His laboratory at Stanford is focused on the application of genomics to medicine. In 2010, he led the team that carried out the first clinical interpretation of a human genome. The paper, published in the Lancet, was reported in over 300 news stories worldwide and became one of the most cited articles in clinical medicine that year. The team extended the approach in 2011 to a family of four. Dr Ashley is a recipient of the National Innovation Award from the American Heart Association and a National Institutes of Health Director’s New Innovator Award. He is a Principal Investigator of the Myocardial Applied Genomics Network (MAGnet), a member of the leadership group of the American Heart Association’s Council on Functional Genomics, and a member of the Institute of Medicine of the National Academy of Sciences Roundtable on Translating Genomic-Based Research for Health. He is a peer reviewer for the NIH and the AHA as well as journals including the New England Journal of Medicine and theLancet. Dr. Ashley is co-founder of Personalis, Inc a company pioneering genome guided medicine.

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