Wide Open Spaces:
Engaging Every Community in Genetic Medicine

Dr. Harry “Hal” Dietz is a professor of pediatrics, an associate professor of medicine and an assistant professor of neurological surgery at the Johns Hopkins University School of Medicine. He is the Victor A. McKusick Professor of Genetics and also serves as the director of the William S. Smilow Center for Marfan Syndrome Research.

Recognized as the world’s leading authority on Marfan syndrome, Dr. Dietz conducted genomic mapping and research on therapeutic agents for deficiencies in the genetic protein fibrillin, which is linked to Marfan syndrome. His research contributions have made diagnosis of the condition patient-specific and accurate.

He has received more than 50 national and international awards and honors, including the Antoine Marfan Award from the National Marfan Foundation and the Art of Listening Award from the American Heart Association.

Dr. Dietz is an ad hoc reviewer for 19 different organizations, including the American Journal of Cardiology, the Archives of Pediatric and Adolescent Medicine, and the Journal of Clinical Investigation. Over more than two decades, Dr. Dietz has mentored 75 predoctoral and postdoctoral researchers. He has authored 282 original publications in peer-reviewed journals, 25 textbook chapters, and 239 abstracts, and has also delivered more than 440 lectures on Marfan syndrome and related genetic disorders.

Erin Rooney Riggs is a genetic counselor and assistant professor at the Geisinger Autism & Developmental Medicine Institute. She is one of the principal investigators of the Clinical Genome Resource, or ClinGen, and currently serves as its steering committee chair.

Dr. Wojcik is a neonatologist and clinical geneticist at Boston Children’s Hospital and an assistant professor in pediatrics at Harvard Medical School who specializes both clinically and academically in rare diseases affecting the fetus and neonate. Following her pediatric residency, she pursued combined fellowship training in both neonatology and genetics and subsequently obtained her Master of Public Health degree to augment her clinical effectiveness and health services research. She currently serves as the Director of the Neonatal Genomics Program at Boston Children’s Hospital and the Medical Director of the Manton Center for Orphan Disease Research. Dr. Wojcik’s research focuses on the application of genomic medicine in the perinatal setting, particularly related to genetic diagnosis in the neonatal intensive care unit, understanding genetic causes of perinatal mortality via genomic autopsy, and addressing inequities in rare disease genomics. In her clinical practice, she attends in the neonatal intensive care unit at Boston Children’s Hospital and on the inpatient genetics service, consults prenatally for complex fetal cases, and runs a multidisciplinary developmental follow-up clinic for infants with genetic conditions.

Ada Hamosh MD, MPH, the Dr. Frank V. Sutland Professor of Pediatric Genetics, is the Clinical Director of the McKusick-Nathans Department of Genetic Medicine at Johns Hopkins University School of Medicine and the Scientific Director of Online Mendelian Genetics in Man (OMIM®). Dr. Hamosh received her BA in Biology from Wesleyan University, MD from Georgetown University, and MPH from Johns Hopkins School of Hygiene and Public Health. She completed a pediatrics residency and clinical and clinical biochemical genetics fellowship at Johns Hopkins Hospital. Dr. Hamosh has authored over 130 papers and serves on several international committees representing genome-phenome relationships as well as phenotype ontologies, including the International Rare Disease Research Consortium, the Human Variome Project, the ClinGen Project, the Global Alliance for Genomic Health (GA4GH), and the Human Genome Organization (HUGO). She will serve a two-year term as President of HUGO beginning in Spring 2023.

She and colleagues developed PhenoDB (http://phenodb.org), a web-based tool for the collection, storage, and analysis of standardized phenotype and genotype data for use in the CMG project that is freely available to all for clinical and research use, and GeneMatcher (http://genematcher.org), a website to enable matches of clinicians and researchers with an interest in the same gene. GeneMatcher includes over 14,000 submitters from 104 countries and >65,000 cases. Matches through GeneMatcher have resulted in >690 publications describing >500 novel disease genes. GeneMatcher is a founding member of the Matchmaker Exchange (MME). Dr. Hamosh serves on the steering committee of the MME and represents it on the steering committee of the Global Alliance for Genomics and Health (GA4GH).

Emily Fassi is a board-certified genetic counselor currently working as the Lead Genetic Counselor for the St. Luke's Cancer Institute in Boise, Idaho where she leads a team of five genetic counselors and sees adults and children referred from throughout the state of Idaho for hematology/oncology related indications. She previously worked as a genetic counselor in pediatric genetics at Washington University School of Medicine where she provided genetic counseling to adults and children for a wide range of indications including exome sequencing, arrhythmias, epilepsy, chromosome abnormalities, and abnormal newborn screens. Emily earned her master's degree in genetic counseling from Northwestern University.

Dr Howard McLeod is an internationally recognized expert in precision medicine, having made novel contributions at the discovery, translation, implementation, and policy levels. He is the Director and Professor at the Utah Tech University Center for Precision Medicine and Functional Genomics and Medical Director for Precision Medicine at the Geriatric Oncology Consortium. He is also a Precision Health Advisor across the 33 hospital, ~400 clinic, 9 state Intermountain HealthCare System. Dr McLeod was a recent member of both the FDA committee on Clinical Pharmacology and the NIH Human Genome Advisory Council. Dr McLeod has been recognized as a Fellow of both the American Society of Clinical Oncology and the American College of Clinical Pharmacy. He has also been an active Board Member and/or Founder for over a dozen privately held and publicly traded companies. Howard has published over 600 peer reviewed papers on precision medicine, pharmacogenomics, or clinical pharmacology and continues to work to advance innovative healthcare.

Erica Woodahl, Ph.D. is a Professor in the Department of Biomedical and Pharmaceutical Sciences and Director of the L.S. Skaggs Institute for Health Innovation at the University of Montana. Erica Woodahl received a B.S. in Biochemistry at the University of Notre Dame and a Ph.D. from the Department of Pharmaceutics at the University of Washington. She completed a postdoctoral fellowship in clinical pharmacokinetics at the Fred Hutchinson Cancer Research Center in Seattle. Dr. Woodahl’s research focuses on precision medicine and pharmacogenomics to identify sources of interindividual variability in disease treatment and prevention. Translation of pharmacogenomics into clinical practice requires genetic research with diverse patient populations to accurately predict drug response and toxicity for all people regardless of geographic location and ethnicity. Towards this end, we focus on precision medicine and pharmacogenomics with rural and American Indian and Alaska Native populations. We use community-based participatory research to address complex and important challenges to conducting precision medicine research and aid in the translation of precision medicine research into the clinic. The laboratory is also focused on understanding the mechanisms by which pharmacogenomics alter the function of drug-metabolizing enzymes, drug transporters, and regulatory proteins that contribute to drug disposition.

Dr. Haldeman-Englert is a Clinical Geneticist who sees adult and pediatric patients with suspected genetic and metabolic disorders. He collaborates with other physicians and researchers regarding further laboratory and phenotypic characterization of patients with genetic conditions. He works at the national and state (North Carolina) level to improve genetic testing and services for patients, education for patients and providers, and epidemiology and surveillance initiatives for genetic diseases.

Wesley G. Patterson is a genetics PA at the Greenwood Genetic Center in Greenwood, South Carolina and a Clinical Assistant Professor of Internal Medicine at the University of South Carolina School of Medicine-Columbia. He is involved in the evaluation and treatment of genetic disorders in individuals of all ages. He has an interest in seeing patients with developmental delay, autism spectrum disorder, intellectual disability, and connective tissue disorders. Wesley holds a PhD in Healthcare Genetics from Clemson University and a Certificate of Added Qualifications in Pediatrics. He also has a special interest in genetics and genomics education for healthcare providers, lectures on the state and national levels, and serves as a preceptor for several PA and medical programs.