The Impact of Social Media and Family Networking on Diagnosing Patients with Rare Diseases

Matthew Might

Associate Professor

Dr. Matthew Might has been the Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham (UAB) since 2017. At UAB, Dr. Might is the Hugh Kaul Kaul Endowed Chair of Personalized Medicine, a Professor of Internal Medicine and a Professor of Computer Science.

From 2016 to 2018, Dr. Might was a Strategist in the Executive Office of the President in The White House. And, in 2015, Dr. Might joined the faculty of the Department of Biomedical Informatics at the Harvard Medical School.

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, and he is a co-founder and Scientific Advisor to Pairnomix.

Dr. Might received his B.S. (2001), M.S. (2005) and Ph.D. (2007) in computer science from Georgia Tech.

Dr. Might tweets from @mattmight and blogs at blog.might.net.

Stephany Tandy-Connor,

Medical Professional

Mrs. Tandy-Connor graduated from Purdue University with a B.S. in Genetic Biology in 2000, and worked in molecular/toxicology research laboratories in Indianapolis until attending graduate school. She earned her M.S. in Genetic Counseling from Arcadia University in Philadelphia, and then moved to Southern California to work as a clinical Genetic Counselor, specializing in pediatric and […]

Stephany earned her bachelor’s degree from Purdue University in 2000 and worked in academic research labs for five years before attending graduate school at Arcadia University where she earned her degree in genetic counseling. After graduate school, Stephany worked both pediatric and cancer clinics for Southern California Kaiser Permanente. Stephany joined Ambry Genetics in the beginning of 2012 and is currently a supervisor of the genetic counselor cancer reporting team.

Erica Smith

Clinical Genomics Scientist

Erica received her BS at University of California, San Diego, in Animal Physiology and Neuroscience and a PhD at University of California, Irvine in Neurobiology and Behavior, in an Alzheimer’s lab led by Carl Cotman. Her thesis established the molecular response of hippocampal neurons to simultaneous growth signals such as those from Brain Derived Neurotrophic […]

Erica received her BS at University of California, San Diego, in Animal Physiology and Neuroscience and a PhD at University of California, Irvine in Neurobiology and Behavior, in an Alzheimer’s lab led by Carl Cotman. Her thesis established the molecular response of hippocampal neurons to simultaneous growth signals such as those from Brain Derived Neurotrophic Factor (BDNF) and inflammatory cytokines. Erica then completed post-doctoral research in a blood-brain-barrier lab with Dritan Agalliu, studying an animal model of PANDAS (Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcus). She studied the effect of repeated strep throat infections on mouse brains. At Ambry, Erica specializes in evaluating clinical validity, or the evidence linking genes to specific diseases.