To contact The Genome Partnership or for questions about AGBT please use the email form or email Leisa Zigman, President at leisaz@agbt.org, call her at (314) 332-1180 or mail her at The Genome Partnership, 3730 Foundry Way, Suite 218, Saint Louis, Missouri 63110
Dr Ashley has a passion for rare genetic disease and was the first co-chair of the steering committee of the Undiagnosed Diseases Network. He was a recipient of the National Innovation Award from the American Heart Association and the NIH Director’s New Innovator Award. He is part of the winning team of the $75m One Brave Idea competition and co-founder of three companies: Personalis Inc ($PSNL), Deepcell Inc, and SVExa Inc. He was recognized by the Obama White House for his contributions to Personalized Medicine and in 2018 was awarded the American Heart Association Medal of Honor for Genomic and Precision Medicine. He was appointed Stanford Associate Dean in 2019. In 2021, his first book The Genome Odyssey – Medical Mysteries and the Incredible Quest to Solve Them was released. Father to three young Americans, in his ‘spare’ time, he tries to understand American football, plays jazz saxophone, and conducts research on the health benefits of single malt Scotch whisky.
Sharon F. Terry is President and CEO of Genetic Alliance, an enterprise engaging individuals, families and communities to transform health. Genetic Alliance works to provide programs, products, and tools for ordinary people to take charge of their health and to further biomedical research.
As ‘just a Mom’ with a master’s degree in theology, she cofounded PXE International, a research advocacy organization for the genetic condition pseudoxanthoma elasticum (PXE), in response to the diagnosis of PXE in her two children in 1994. She is a co-discoverer of the ABCC6 gene, and patented it to ensure ethical stewardship in 2000, assigning her rights to the foundation. She subsequently developed a diagnostic test and conducts clinical trials. She is the author of 150 peer-reviewed papers, of which 30 are clinical PXE studies. Her story is the topic of her TED Talk and TED Radio Hour.
In her focus at the forefront of consumer participation in genetic research, services and policy, she serves in a leadership role on many of the major international and national organizations, including the Precision Medicine Initiative Cohort Advisory Panel; Accelerating Medicines Partnership; National Academy of Medicine Roundtable on Genomics and Precision Health; the PhenX scientific advisory board; the Global Alliance for Genomics and Health; the International Rare Disease Research Consortium Executive Committee; Genome Medical; LunaDNA; and as Founding President of EspeRare Foundation of Geneva, Switzerland. Terry is co-founder of the Genetic Alliance Registry and Biobank. She is the chair of the National Academy of Medicine Health Sciences Policy Board. She is on the editorial boards of several journals, including Genome, Patient Engagement Editor for Genetic Alliance’s official journal Genetic Testing and Molecular Biomarkers, Chief Patient Advisor for Clinical and Translational Science. She led the coalition that was instrumental in the passage of the Genetic Information Nondiscrimination Act. She received an honorary doctorate from Iona College for her community engagement work in 2006; the 2011 Research!America Distinguished Organization Advocacy Award and an inaugural member of Disruptive Women in Health Care in 2009; and the Clinical Research Forum and Foundation’s Annual Award for Leadership in Public Advocacy in 2011. She was named one of FDA’s “30 Heroes for the Thirtieth Anniversary of the Orphan Drug Act” in 2013. She is co-inventor of the Platform for Engaging Everyone Responsibly (PEER), receiving a large grant from the Robert Wood Johnson Foundation in 2014. She was Co-PI of the PCORnet Coordinating Center and Chair of the PCORnet Engagement Committee. She was a member of the Blue Ribbon Panel’s Working Group on Enhanced Data Sharing for the Cancer Moonshot. She was named a National Associate of the National Research Council, National Academies of Engineering, Sciences, and Medicine for her extraordinary service. She received the Health 2.0 Health Activist award in 2016. In 2017, she co-founded the People Centered Research Foundation. In 2019, she won the Luminary Award from the Precision Medicine World Conference. In 2021, she was awarded the American Society of Human Genetics Advocacy Award.
Terry is an Ashoka Fellow. She is an avid student and facilitator of Gestalt Awareness Practice, offering workshops and individual facilitation. Her daughter and son are why she started down this path. They, their wives, and her granddaughter ground and enliven her.
Sharon F. Terry • sterry@geneticalliance.org • 202.966.5557
Hamish S. Scott, BSc (Hons), PhD, FFSc (RCPA), FAHMS, has transformed his department from being largely diagnostic (40 people) to being a dynamic academic/diagnostic department integrated with basic and clinical research. His department has 35 full-time research personnel and is active in student (science and medical) placements, training (PhDs, registrars, overseas post-docs) and clinical trials. His passion is linking research to diagnostics and clinical translation. He has been imbedded within diagnostic units for all but 8 of his 35 year laboratory career.
He has helped develop and introduce new technologies for both somatic and germline genotyping for improved diagnoses and treatment of cancers and genetic diseases including national and international firsts, for which his team has won several prizes. He has substantive experience of functional studies, modelling diseases, in vitro, ex vivo and in vivo using molecular, cellular and mice models. He is on the National Steering Committee (NSC) and SA leader of Australian Genomics (Health Alliance). He is the co-leader of national and international projects such as national Australian study to identify genetic causes of perinatal death.
Stephen B. Montgomery is an Associate Professor of Pathology, Genetics and, by courtesy, Computer Science at Stanford University. His laboratory focuses on both functional genomics and bioinformatics approaches to understanding the molecular origins of rare and common genetic diseases. Dr. Montgomery has been an active member of multiple large-scale consortia including GREGoR, GTEx and MoTrPAC. His laboratory has developed novel transcriptome-based approaches to identifying impactful rare variants in individuals, families and populations and for measuring gene-by-environment effects.
Phil Febbo, MD, was appointed as Chief Medical Officer in March 2018. In this role, he is responsible for developing and executing the Company’s medical strategy to drive genomic testing into healthcare practice. Dr. Febbo has a successful track record of translational research, clinical excellence, and for embedding molecular insights into clinical care.
Immediately before joining Illumina, Dr. Febbo served as CMO of Genomic Health. Prior to his five years at Genomic Health, Dr. Febbo was a Professor of Medicine and Urology at the University of California, San Francisco (UCSF), where his laboratory focused on using genomics to understand the biology and clinical behavior of prostate cancer, and his clinical practice focused on genitourinary oncology.
Before joining the faculty of UCSF as an associate professor in 2010, Dr. Febbo worked at Duke University Medical Center’s Institute of Genome Sciences and Policy. He completed his internal medicine residency at the Brigham and Women’s Hospital, and his fellowship in oncology at the Dana-Farber Cancer Institute. After which he was an Attending Physician in the Genitourinary Oncology Center at Dana-Farber, Instructor at Harvard Medical School, and a post-doctoral fellow in Dr. Todd Golub’s laboratory at Dana-Farber, as well as the Whitehead Institute Center for Genomic Research of MIT (now the Broad Institute). Throughout his career, Dr. Febbo has served as a primary investigator for the Translational Research Program of The Alliance, an NCI-supported cooperative group, where his work focused on incorporating biomarkers into large clinical trials.
Dr. Febbo holds a Bachelor of Arts degree in Biology from Dartmouth College and an M.D. from UCSF.
Diana W. Bianchi is the Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and a Senior Investigator in the Center for Precision Health Research at the National Human Genome Research Institute (NHGRI). She received her M.D. from Stanford and her postgraduate training in Pediatrics, Medical Genetics and Neonatal-Perinatal Medicine at Harvard.
Dr. Bianchi’s research focuses on noninvasive prenatal screening and development of novel fetal therapies for genetic disorders. She has published over 350 peer-reviewed articles and is one of four authors of Fetology: Diagnosis and Management of the Fetal Patient, which won the Association of American Publishers award for best textbook in clinical medicine in 2000. She has held multiple leadership positions, including Presidents of the International Society for Prenatal Diagnosis (ISPD) and the Perinatal Research Society, council memberships in the Society for Pediatric Research (SPR) and the American Pediatric Society, as a member of the board of directors in the American Society for Human Genetics. She served as the Editor-in-Chief of the journal Prenatal Diagnosis from 2007-2020.
Dr. Bianchi has received the Neonatal Landmark Award from the American Academy of Pediatrics, the Maureen Andrew Award for Mentorship from the SPR, the Colonel Harland Sanders Award for lifetime achievement in Medical Genetics, the Pioneer Award from ISPD, and the Health Public Service Visionary Award from the Society for Women’s Health Research. In 2013 she was elected to the National Academy of Medicine. She received an honorary Ph.D. from the University of Amsterdam in 2020.
Dr. Allyson Berent is a veterinary internal medicine specialist who serves as the Director of Interventional Endoscopy Services at the largest animal hospital in the world, The Animal Medical Center, in New York City. After graduating from Cornell University College of Veterinary Medicine she completed an internship at the University of Minnesota and a residency in Small Animal Internal Medicine at the Veterinary Hospital of the University of Pennsylvania.
After completing a fellowship in interventional radiology at the Veterinary Hospital of the University of Pennsylvania, a fellowship in Endourology at Thomas Jefferson University, and an Interventional radiology fellowship at the Hospital of the University of Pennsylvania, she served as an Adjunct Assistant Professor in Internal Medicine and Interventional Radiology/ Interventional Endoscopy at the Matthew J. Ryan Veterinary Hospital of the University of Pennsylvania. Dr. Berent has a particular focus on medical device development, stem cell therapy through regenerative medicine and selective arterial delivery, ureteral diseases, urinary incontinence and minimally invasive management of upper tract urinary obstructions and biliary obstructions.
In 2014 Dr. Berent’s daughter was diagnosed with a rare non-degenerative neurogenetic disorder called Angelman syndrome. In October of 2015 she joined to Board of Directors as a Scientific Director for the Foundation for Angelman Syndrome Therapeutics (FAST), and in March of 2016 became the Chief Science Officer for the Foundation. Dr. Berent helped to spearhead the development of a pre-competitive biomarker and outcome measure consortium in order to bring patient focused outcome measures forward for human clinical trials (Angelman Syndrome Biomarker and Outcome Measure Consortium-ABOM) and now serves as the Director of this consortium.
Dr. Berent Co-Founded the International Angelman Syndrome Research Council (INSYNC-AS). Through FAST, Dr. Berent collaborated with a consortium of scientists to encourage translational research opportunities, in order to help bring novel genetic therapies forward toward human clinical trials. Through this work, with the foundation, Dr. Berent co-founded GeneTx Biotherapeutics, a company singularly focused to advance an antisense oligonucleotide (ASO) therapy through IND enabling studies and a phase 1/2 clinical trial. Dr. Berent currently serves as the Chief Operating Officer of GeneTx Biotherapeutics, who partnered with Ultragenyx Pharmaceuticals in August of 2019. The Phase 1/2 clinical trial started enrolling patients in February 2020 as the first intrathecally delivered ASO for Angelman syndrome, a study of safety and tolerability of GTX-102.
I am an Assistant Professor in the Department of Pediatrics at UC San Diego. My research interests include pregnancy and early childhood determinants of health. I also am interested in the expansion of methodology to characterize complex exposures across gestation, including substances (alcohol, marijuana) and medications. I am a co-investigator of the Study of Mothers and Infants, a large administrative database linked to biospecimens allowing us to study genetic and environmental contributors to pregnancy and child outcomes.
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