Advances in Prenatal Molecular Diagnostics
Art Beaudet, MD, Department of Molecular & Human Genetics, Baylor College of Medicine
Dr. Beaudet received his M.D. degree from Yale, did pediatric residency training at Johns Hopkins, and was a research associate at the National Institutes of Health before joining Baylor College of Medicine (BCM) in 1971 where he has remained to the present. Dr. Beaudet has made diverse contributions in the field of mammalian genetics including discovery of uniparental disomy in humans, identification of the Angelman syndrome gene, recognition of a novel inborn error of carnitine biosynthesis as a risk factor for autism, developing cell-based noninvasive prenatal testing, and publishing over 300 original research articles. Dr. Beaudet is well-known as one of the editors of the Metabolic and Molecular Bases of Inherited Disease textbook for the 6th through 8th editions and now the electronic edition, and he has served on many editorial boards and national review panels. He was President of the American Society of Human Genetics in 1998 and is an elected member of the Association of American Physicians, the National Academy of Medicine (formerly Institute of Medicine), and the National Academy of Sciences. Dr. Beaudet is currently the Henry and Emma Meyer Distinguished Service Professor in the Department of Molecular and Human Genetics at Baylor College of Medicine and Texas Children’s Hospital in Houston.
Paul Billings, PhD, CMO, Natera
Dr. Paul R. Billings is a board-certified internist and clinical geneticist, who also holds a PhD in Immunology, from Harvard University. He worked there with Dr. Baruj Benacerraf, who subsequently received the Nobel Prize in Medicine. In 2018, Dr. Billings became the Chief Medical Officer and Senior Vice President for Medical Affairs at Natera, Inc., a global leader in human genetic testing. Dr Billings recently has been a Partner in the diagnostic medicine consultancy, the Bethesda Group, and the Managing Director of the Bethesda Group Fund. He is Chairman of PlumCare, LLc and Synergenz Biosciences Limited. He has held academic and research appointments at Harvard University, UC San Francisco, Stanford University and UC Berkeley. He co-founded the stem cell company, CBR Systems, was a Director at Ancestry.com and Signature Genomics Inc, and is co-founder and senior advisor of Fabric Genomics, Inc., a leading genome informatics firm. Until 2018, Dr. Billings was the Chairman of Biological Dynamics, a revolutionary molecular measurement platform based in San Diego, CA.
Lee Cooper, JD, MBA, Entrepreneur in Residence, RA Capital
Lee Cooper has experienced first-hand the challenges of genetic disease in family planning, following his own diagnosis with a monogenic disorder. Lee is dedicated to improving all parents’ ability to have healthy babies. He is founder of the not-for-profit Institute for Genetic Disease Prevention and is an Entrepreneur-in-Residence for RA Capital in Boston, MA. Previously, Lee worked in corporate development for Moderna Therapeutics, contributing to multiple technology-driven transactions and $650M+ in equity and non-dilutive financing to help pioneer the development of mRNA-based medicines in rare genetic disease, infectious disease, and oncology. Lee has also worked in the technology and life sciences practice at Goodwin Procter LLP, and was on the founding team of Artisan Healthcare Consulting, advising clients ranging from venture-backed biotechnology firms to Fortune 50 pharmaceutical companies. Lee received his A.B. from Dartmouth College, and his J.D. and M.B.A. from Columbia University, where he was a Stone Scholar. Lee lectures for the Biotechnology Program at Columbia University and has been a featured speaker at events dedicated to innovation and patient advocacy. Lee’s writings on issues related to healthcare innovation, policy, and ethics have appeared in Wired, NEO.LIFE, Tablet, and Columbia Business Law Review.
Peter Kolchinsky, Managing Director & Portfolio Manager, RA Capital Management
Peter Kolchinsky is a founder, Portfolio Manager, and Managing Director at RA Capital Management. Peter is active in both public and private investments in companies developing drugs, medical devices, diagnostics, and research tools, and serves as a Board Member for various public and privately held companies, including Dicerna Pharmaceuticals, Inc. and Wave Life Sciences Ltd. Peter also leads the firm’s outreach and publishing efforts, which aim to make a positive social impact and spark collaboration among healthcare stakeholders, including patients, physicians, researchers, policy makers, and industry. He authored “The Entrepreneur’s Guide to a Biotech Startup”, written on the biotech social contract, and served on the Board of Global Science and Technology for the National Academy of Sciences. Peter holds a BS from Cornell University and a PhD in Virology from Harvard University.
Geralyn Lambert-Messerlian, PhD, FAACC, Professor and Laboratory Director, Women & Infants Hospital of Rhode Island
Dr. Lambert-Messerlian is the director of the Division of Medical Screening and Special Testing and a professor in the Department of Pathology and Laboratory Medicine at The Warren Alpert Medical School of Brown University. She has a national and international reputation for her studies of the inhibin and activin family of gonadal and placental hormones, and was involved in the first studies in the U.S. on the clinical use of inhibin A in prenatal screening for Down syndrome and inhibin B in assessment of ovarian reserve. She is the author or coauthor of more than 100 research studies, review articles and scientific abstracts.
Thomas F. McElrath, PhD, Attending in Maternal-Fetal Medicine, Obstetrics and Gynecology, Brigham & Women’s Hospital
Dr. McElrath is an Associate Professor of Obstetrics, Gynecology and Reproductive Biology at Harvard Medical School. He has over 20 years of clinical experience in Maternal-Fetal Medicine and High Risk Obstetrics at the Brigham & Women’s Hospital. He has a PhD in Mathematical Demography and is the Principal Investigator of the LIFECODES birth cohort. He has been widely published in pregnancy related epidemiologic and clinical research as well as a mentor to PhD students, residents, medical students and fellows. His work has led to patents and early stage product development in the nascent field of pregnancy related biomarker development.
Stephanie Meredith, MA, Lettercase Program/Medical Outreach Director, Human Development Institute, University of Kentucky
Bio coming soon.
Marsha Michie, PhD, Assistant Professor, Bioethics, Case Western Reserve University School of Medicine
Marsha Michie is an Assistant Professor in the Department of Bioethics at Case Western Reserve University School of Medicine. Dr. Michie is also an Assistant Professor (WOS) at the Institute for Health and Aging at the University of California, San Francisco, where she holds appointments in the Department of Social and Behavioral Sciences and the Department of Obstetrics, Gynecology, and Reproductive Sciences, and has been a collaborator in UCSF Bioethics and the UC Bioethics Collaboratory. Dr. Michie received her PhD in Anthropology from the University of North Carolina–Chapel Hill. She also completed postdoctoral training at the UNC Center for Genomics and Society, followed by a postdoctoral fellowship at the Stanford Center for Biomedical Ethics. Dr. Michie’s work employs empirical research to investigate ethical questions in biomedicine. Her scholarly work focuses on the experiences of people who are stakeholders in biomedical research, the innovations it produces, and the ways these are translated into clinical care. She has conducted research with genomic research participants, people who have refused research participation, families seeking or dealing with genetic diagnoses, and various stakeholders in new technologies for prenatal testing—including clinicians, test developers, pregnant women, and disability advocates. Her work is informed by bioethical principles, social theory, and literatures on identity, practice, narrative, and disability.
Cynthia Morton, PhD, William Lambert Richardson Professor, Obstetrics, Gynecology & Reproductive Biology and Pathology, Harvard Medical School; Director, Cytogenetics, Brigham & Women’s Hospital
Cynthia Casson Morton received her Bachelor’s of Science degree from the College of William and Mary in Virginia and her Ph.D. in Human Genetics from the Medical College of Virginia in Richmond. Dr. Morton is certified by the American Board of Medical Genetics in Ph.D. Medical Genetics, Clinical Cytogenetics and Clinical Molecular Genetics. Her research interests are in molecular cytogenetics, hereditary deafness, genetics of uterine leiomyomata and human developmental disorders. She has published over 275 original articles. As Director of Cytogenetics, Dr. Morton has implemented the use of next-generation sequencing to provide nucleotide resolution of balanced chromosomal rearrangements detected in the prenatal setting. Her laboratory has been a major site for training laboratory geneticists in clinical cytogenetics. Dr. Morton served as Director of the Biomedical Research Institute (BRI) at Brigham and Women’s Hospital. She is a Member of three of its Centers: Cancer Research Center, BWH Genomics Center, and Connors-BRI Center for Research on Women’s Health & Gender Biology. Dr. Morton served as President of the American Society of Human Genetics in 2014. She was a member of the Board of Directors of the Society and completed a six-year tenure as Editor of its journal, The American Journal of Human Genetics. She is currently a member of the Counsel of Scientific Trustees of the Hearing Health Foundation, and Chair of the Veteran’s Administration Genomic Medicine Program Advisory Committee. She also is a past member of the Board of Directors of the American Board of Medical Genetics where she served as Secretary, Treasurer and Chair of the Accreditation Committee. She was the Chair of the Molecular Genetic Pathology Policy and Exam Committees of the American Board of Medical Genetics and the American Board of Pathology. She served as Member and Chair of the Board of Scientific Counselors of the National Institute of Deafness and Other Communication Disorders, and as Member and Chair of the Board of Regents of the National Library of Medicine.
Louis J. Muglia, MD, PhD, Director, Division of Human Genetics, Department of Pediatrics, Cincinnati Children’s Hospital Medical Center
Dr. Muglia is A Graeme Mitchell Chair and Director, Division of Human Genetics, Co-Director of the Perinatal Institute and Director of the Center for Prevention of Preterm Birth and Vice Chair for Research at Cincinnati Children’s Hospital Medical Center, and Professor of Pediatrics at the University of Cincinnati College of Medicine. Dr. Muglia has been a leader in the analysis of molecular pathways leading to birth. These studies have evolved over the last decade to specifically focus on the mechanisms controlling the timing for birth in humans using genetics and comparative genomics. The goal of the Muglia laboratory is to understand the molecular timing machinery comprising this biological clock to prevent or better treat human preterm labor and delivery. Dr. Muglia earned his Doctor of Medicine (1988) and Doctor of Philosophy (1986) degrees from the University of Chicago. He received a Bachelor of Science degree in biophysics from the University of Michigan in 1981.
Maria New, MD, Director of Adrenal Steroid Disorders Program, Professor of Pediatrics and Genetics, Pediatric Endocrinology, Icahn School of Medicine at Mount Sinai Hospital
Dr. Maria New is the pioneer of the Non-Invasive Prenatal Diagnosis of Congenital Adrenal Hyperplasia, a monogenic genetic disorder.
Patrizia Paterlini-Brechot, PhD, MD, Cellular & Molecular Biology, University Paris Descartes
Professor Patrizia Paterlini-Brechot, MD, PhD, is Oncologist, Hematologist and Molecular Biologist. She began her career with a tenure Assistant position at the University of Bologna, Italy. She then obtained a tenure Professorship position in 2004 at Paris Descartes University-Hôpital, with a triple task of research leader, academic teacher and hospital practitioner. Author or co-author of more than 120 peer reviewed scientific articles, and co-inventor of 7 patents, Prof. Paterlini-Brechot published fundamental studies on HBV and BCV-related liver carcinogenesis, and on the impact of calcium signaling on ER stress-related diseases like cancer and Alzheimer’s disease. Starting from 1998, Prof. Paterlini-Brechot's team developed and patented the new method ISET (Isolation by SizE of Tumor/Trophoblastic cells) allowing for the first time the isolation from blood of intact tumor and fetal cells without loss and without the use of antibodies. This approach is now recognized as a breakthrough in the fields of predictive oncology and non-invasive prenatal diagnosis. Prof. Paterlini-Brechot's team is internationally recognized for its expertise and knowledge in the field of single cells molecular analyses of circulating rare cells such as tumor and fetal cells, a technically highly challenging field with important clinical implications in non-invasive theranostics and non-invasive prenatal diagnosis.
Cagri Savran, PhD, Professor, Purdue University; Founder & CSO, Savran Technologies, Inc.
Dr. Savran obtained his B.S. from Purdue University and S.M. and Ph.D. from MIT, all in mechanical engineering. He's a professor of mechanical engineering and biomedical engineering at Purdue University where his research group focuses on development of novel micro technologies for non-invasive diagnostics. Dr. Savran is also the founder and the CSO of Savran Technologies Inc. which is located in the Kendall Square/Boston area.
Joe Leigh Simpson, MD, President for Research and Global Programs, March of Dimes Foundation
Dr. Joe Leigh Simpson, MD,FACMG,FACOG serves as Medical Director of Reproductive Genetics Institute, Inc. Dr. Simpson serves as Senior Vice President for Research and Global Programs at the March of Dimes, based in New York, United States. Dr. Simpson leads a $100 million research grant portfolio focused on the prevention of birth defects, premature birth and infant mortality. He also guides the March of Dimes’ global partnerships with academic medical centers, international organizations, and nongovernment organizations in middle- and lower-income countries to help improve maternal and infant health. He serves as Chairman of Global Editorial Advisory Board at mdCurrent, LLC. He is an international expert in genetics and women’s health issues. Dr. Simpson serves as Professor of Obstetrics and Gynecology and Human and Molecular Genetics at Wertheim College of Medicine, Florida International University, Miami, Florida, United States. He was Executive Associate Dean for Academic Affairs at Wertheim College of Medicine, Florida International University. He served as Member of Medical Advisory Board at Numera, Inc. He serves as President of the International Federation of Fertility Societies (IFFS). He served as President of the Society for Gynecologic Investigation. He serves as President of the Board of American College of Medical Genetics. He is a Member of the National Academy of Science, Institute of Medicine and the American Society for Reproductive Medicine. He has authored more than 600 clinical articles and chapters and 15 books.
Ripudaman Singh, PhD, MBA, CTO, ARCEDI Biotech Aps
Ripudaman Singh has 10 years of experience in developing technologies for the enrichment and detection of rare fetal cells from maternal blood. His team was the first to publish the expression profile data on the circulating fetal cells, showing that fetal cells circulating in maternal blood have a placental origin. The team holds two patents for the isolation and detection of such cells. He has a PhD in Medicine (Genetics of Human Longevity) from Aarhus University, Denmark, and MBA from Aarhus School of Business.
Brian Skotko, MD, MPP, Co-Director, Down Syndrome Program, Massachusetts General Hospital
A Board-certified medical geneticist and Co-Director of the Down Syndrome Program at Massachusetts General Hospital, Dr. Skotko has dedicated his professional energies toward children with cognitive and development disabilities. In 2001 he co-authored the national award-winning book, Common Threads: Celebrating Life with Down Syndrome and, most recently, Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. He is a graduate of Duke University, Harvard Medical School, and Harvard Kennedy School. Dr. Skotko recently authored major research on how physicians deliver a diagnosis of Down syndrome to new and expectant parents. He has been featured in The Wall Street Journal, The New York Times, The Washington Post, The L.A. Times, NPR’s “On Point,” and ABC’s “Good Morning America.” Dr. Skotko serves on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress, the Board of Directors for the Band of Angels Foundation, and the Professional Advisory Committee for the National Center for Prenatal and Postnatal Down Syndrome Resources.
Hsian-Rong Tseng, PhD, Professor, Molecular & Medical Pharmacology, University of California, Los Angeles
Dr. Tseng is a Professor in the Department of Molecular & Medical Pharmacology at UCLA. He also holds memberships in the California NanoSystems Institute, Crump Institute for Molecular Imaging, Jonsson Comprehensive Cancer Center, and Institute for Molecular Medicine, on UCLA campus. He has over 22 years of experience in organic chemistry, covering synthetic methodology, organometallic supramolecular and radiochemistry, as well as 13 years of experience in micro- and nanofabrication for applications in electronic and microfluidic devices. Over the past 10 years, Dr. Tseng’s group at UCLA has developed a series of nanotechnology- and microfluidics-enabled in vitro molecular diagnostic (IVMD) technologies. These technologies are capable of, 1) quantifying single-cell signaling events, 2) measuring cell proliferation rates and metabolic phenotypes, and 3) capturing rare populations of cells (e.g., circulating tumor cells, CTCs, and circulating fetal nucleated cells, CFNCs) that are of significant value in cancer and prenatal diagnoses, respectively. He co-directs the in vitro molecular diagnostic technology center in the UCLA Institute for Molecular Medicine, where the new-generation IVMD technologies have been validated by conventional technologies using clinical samples. In parallel, Dr. Tseng co-founded a start-up company, CytoLumina Technologies Corp., which leads the commercial endeavors for the CTC-based cancer and CFNC-based prenatal diagnostic technologies.
Neeta Vora, MD, Associate Professor, Department of OB GYN, Division of Maternal-Fetal Medicine, University of North Carolina Chapel Hill
Dr. Neeta Vora, associate professor in the Division of Maternal Fetal Medicine at UNC OB-GYN, studies the use of new genomic technologies to improve prenatal diagnosis. She is the Director of Reproductive Genetics at UNC-Chapel Hill.
Ronald Wapner, MD, Director, Reproductive Genetics and Vice Chair, Research, Department of Obstetrics & Gynecology, Columbia University Medical Center
Currently, Dr. Wapner is the Vice Chair of Research in Obstetrics and Gynecology for Columbia University Medical Center and Director of Reproductive Genetics. Dr. Wapner is an internationally known physician and researcher specializing in reproductive genetics. He pioneered the development of chorionic villus sampling (CVS) and multi-fetal reduction. He has authored or co-authored over 350 publications and he has been an active investigator in the area of Maternal-Fetal Medicine. He is either a principal or co-investigator for a number of NICHD sponsored multi-center studies. He serves as the center PI for the National Standards for Fetal Growth study and the NuMoM2B study at Columbia University in the Maternal Fetal Medicine Units Network. Most recently, Dr. Wapner led a multicenter study evaluating the accuracy, efficacy, and clinical advantages of prenatal diagnosis using microarray analysis. In February of 2015, Dr. Wapner received a Lifetime Achievement Award from the Society for Maternal-Fetal Medicine. He has had a significant role in the development of multidisciplinary research studies and clinical research centers throughout his career.
Haichuan Zhang, PhD, CEO, Celula China Medical Technology Co.
Haichuan Zhang received Ph.D. from Tsinghua University 1997, led research and development in US and China based companies for more than 20 years. He is founder and CEO of Celula Inc., which has focused on non-invasive prenatal diagnostic technology since 2005.