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Medical directors

Robert Nussbaum
Dr. Nussbaum has served as Invitae’s Chief Medical Officer since August 2015. Prior to joining Invitae, he was chief of the Division of Genomic Medicine at UCSF Health where he also held leadership roles in the Cancer Genetics and Prevention Program beginning in January 2009 and the Program in Cardiovascular Genetics beginning in July 2007. From April 2006 to August 2015, he served as a member of the UCSF Institute for Human Genetics. Prior to joining UCSF Health, Dr. Nussbaum was chief of the Genetic Disease Research Branch of the National Human Genome Research Institute, one of the National Institutes of Health, from 1994 to 2006. He is a member of the Institute of Medicine and a fellow at the American Academy of Arts and Sciences. Dr. Nussbaum is a board-certified internist and medical geneticist who holds a B.S. in Applied Mathematics from Harvard College and an M.D. from Harvard Medical School in the Harvard-MIT joint program in Health Sciences and Technology. He completed his residency in internal medicine at Barnes-Jewish Hospital and a fellowship in medical genetics at the Baylor College of Medicine.
Daniel Pineda-Alvarez
Dr. Pineda is a board-certified clinical molecular geneticist and clinical cytogeneticist. Prior to joining Invitae, Dr. Pineda was the Senior Laboratory Director at Courtagen Life Sciences and Associate Clinical Director of Cytogenomics at GeneDx. There, he led the implementation of numerous clinical laboratory test, genomic variant interpretation, and reporting processes. He was instrumental in the development and launch of several genetic diagnostic tests in cytogenetics, oncology, cardiology, mitochondrial, metabolic, endocrine, neurologic, and pediatric disorders. Dr. Pineda obtained his M.D. from Universidad CES in Medellin, Colombia, and later pursued post-doctoral training at the Medical Genetics Branch of the National Human Genome Institute (NHGRI), NIH. Subsequently, he completed his American Board of Medical Genetics and Genomics (ABMGG)-accredited fellowship in clinical molecular genetics and clinical cytogenetics at the NIH Medical Genetics and Genomic Medicine Fellowship Training Program. Daniel participates in several workgroups in the Clinical Genome Resource (ClinGen), seeking improved access, quality, and consistency of genetic diagnostic tests.
Swaroop Aradhya
Dr. Aradhya is a board-certified molecular geneticist and cytogeneticist who has helped shape professional practices and technology applications in clinical genetic testing over the past 15 years. He joined Invitae to help bring genetics into mainstream medicine by innovating laboratory technologies, fostering advances in evidence-based clinical standards, and building mechanisms to empower individuals globally to access their genetic information. Before Invitae, Swaroop was VP and senior laboratory director for Neurogenetics and Clinical Microarrays at GeneDx. He completed medical genetics training in 2007 at Stanford University and received his Ph.D. in molecular and human genetics in 2001 at Baylor College of Medicine. Over the course of his career, he has participated in the international Human Genome Project to sequence the X chromosome and helped characterize several genetic disorders. He is currently a ClinGen investigator, serves on the Board of Directors of the American Board of Medical Genetics and Genomics, and is an adjunct clinical associate professor at Stanford University School of Medicine.
Beth Buckley
Dr. Buckley is board-certified in clinical molecular genetics by the American Board of Medical Genetics and Genomics. Prior to joining Invitae, Dr. Buckley was an assistant laboratory director at Counsyl specializing in carrier screening; before that, she was a molecular geneticist at PreventionGenetics with a focus on epilepsy. Dr. Buckley received her doctorate in genetics from the University of Wisconsin-Madison and completed her clinical molecular genetics training at Johns Hopkins.
Ed Esplin
M.D., Ph.D., FACMG
Dr. Esplin is board-certified in clinical genetics and internal medicine. Prior to joining Invitae, he practiced clinical genetics at Kaiser Permanente's San Francisco Medical Center. Dr. Esplin completed the medical scientist training program at the University of Texas Southwestern and obtained a doctorate in genetics, with an emphasis in cancer genetics, along with his medical degree. After his internal medicine residency at UT Southwestern, he was appointed assistant professor of the University of Texas Southwestern Department of Internal Medicine. He also practiced as a hospitalist at the Dallas VA Medical Center. Dr. Esplin completed his clinical fellowship training in medical genetics at Stanford University. He pursued his postdoctoral fellowship in genetics and genomics under Mike Snyder in Stanford's department of genetics, during which time he was supported by an award from the Tashia and John Morgridge Endowed Postdoctoral Fellowship program and by the National Institutes of Health-funded Stanford Clinical and Translational Science Award.
Tina Hambuch
Dr. Hambuch joined Invitae in 2016 to focus on clinical genetic testing applications in pediatrics. She is a diplomate of the American Board of Medical Genetics, a fellow of the American College of Medical Genetics, and a member of the American Society of Human Genetics, Association for Molecular Pathologists, and American Society of Human Genetics. Prior to joining Invitae, Dr. Hambuch was instrumental in launching the first CLIA-certified, and CAP-accredited laboratory offering genome sequencing at Illumina where, over eight years, she built and oversaw a team that implemented and improved the analytical and clinical components of clinical testing and reporting for genome scale testing. She also launched a certified training program for laboratory technicians. Dr. Hambuch earned her Ph.D. at UC Berkeley, was a post-doctoral fellow at the CDC, an assistant professor at University of Munich, and was a scientist at Ambry Genetics. Her medical molecular genetics training was performed at UCLA. She serves on multiple working groups and has authored multiple publications on the standards, guidelines, and applications of clinical next-generation sequencing.
Eden Haverfield
Dr. Haverfield is board-certified in clinical molecular genetics and has more than 12 years of experience in the medical genetics field. Prior to joining Invitae, Dr. Haverfield was the director of the whole exome sequencing program at GeneDx; before that, she was the assistant director of the genetic services laboratory at the University of Chicago. Dr. Haverfield earned her Master of Science in human biology and her doctorate in biological anthropology from the University of Oxford in Oxford, England. While she was earning her doctorate and through her post-doctoral fellowship at Oxford, Dr. Haverfield worked with professors Ryk Ward and Sir David Weatherall on genetic modifiers of sickle-cell disease. She then spent two years as a post-doctoral fellow in clinical pharmacology and pharmacogenomics, studying genetic variation in drug-metabolizing enzyme genes, before completing her board-accredited clinical molecular genetics training at the University of Chicago.
Karine Hovanes
Dr. Hovanes received her B.S. degree in genetics from the University of California, Davis, and her Ph.D. in molecular biology from the University of California, Irvine. She completed her clinical cytogenetics and clinical molecular genetics trainings at the Cedars-Sinai Medical Center and University of California Los Angeles Intercampus Medical Genetics Training Program. She is a diplomat of the American Board of Medical Genetics as a Clinical Cytogeneticist and Clinical Molecular Geneticist. Her research projects in molecular biology have focused on characterization of structure and function of a number of genes implicated in human diseases. Prior to joining Invitae and CombiMatrix, Dr. Hovanes held positions as Assistant Director at the Molecular Laboratory at Esoterix and at the Genetics Department at US LABS.
Britt Johnson
Dr. Johnson is board-certified in clinical molecular genetics and clinical biochemical genetics by the American Board of Medical Genetics and Genomics. She is also board-certified in Clinical Chemistry by the American Board of Bioanalysis. Prior to joining Invitae, Dr. Johnson was the assistant lab director of the Clinical Biochemical Genetics Diagnostic Laboratory at the University of Miami, where she was instrumental in establishing their high-throughput enzyme testing for lysosomal storage disorders in dried blood spots. She also played an active role in the molecular diagnoses of patients with lysosomal storage disorders in the university's Clinical Molecular Genetics Diagnostic Laboratory. Dr. Johnson received her doctorate in genetics at the University of Wisconsin–Madison in 2008. She completed her clinical molecular genetics fellowship in 2011 at the University of California, San Francisco and her clinical biochemical genetics fellowship in 2012 at the University of Miami. Dr. Johnson has a special interest in lysosomal storage disorders, newborn screening and the molecular diagnosis of inborn errors of metabolism.
Kristin McDonald Gibson, Ph.D. Dr. McDonald Gibson is board-certified in clinical molecular genetics by the American Board of Medical Genetics and Genomics. Prior to joining Invitae, Dr. McDonald Gibson completed her clinical molecular genetics fellowship at The Children’s Hospital of Philadelphia where she was part of the team that developed and launched the clinical exome sequencing test for the hospital. Dr. McDonald Gibson received her doctorate in genetics and genomics from Duke University in 2013. While at Duke, she established an analysis pipeline that used exome sequencing to identify mutations that cause limb-girdle muscular dystrophy, and she was a member of a neonatal genomics exome sequencing group that investigates the causes of unexplained medical conditions in children.
Heather McLaughlin
Dr. McLaughlin is a board-certified Clinical Molecular Geneticist by the American Board of Medical Genetics and Genomics and a fellow of the American College of Medical Genetics. Prior to joining Invitae, Dr. McLaughlin was an Associate Director of Clinical Genomics and Cardiogenetics at GeneDx, where she was instrumental in developing their clinical exome sequencing program. She also previously served as an Assistant Laboratory Director at Partners HealthCare Personalized Medicine Laboratory for Molecular Medicine. Dr. McLaughlin obtained a B.S. in Diagnostic Molecular Science from Michigan State University and a Ph.D. in Human Genetics from the University of Michigan. She completed her Clinical Molecular Genetics fellowship at Harvard Medical School. She has clinical expertise in cardiogenetics, connective tissue disorders, neurogenetics, and pediatrics.
Kristina Robinson
Dr. Robinson is board certified in clinical molecular genetics by the American Board of Medical Genetics and Genomics. She received her doctorate in genetics from Harvard University and completed her clinical molecular genetics training at the University of Utah and ARUP Laboratories. Prior to joining Invitae, Dr. Robinson was a laboratory director at Good Start Genetics, where she worked closely with the laboratory and clinical teams to ensure the quality of their carrier screening and preimplantation genetic testing results.
Trilochan Sahoo
Dr. Trilochan Sahoo is board certified in clinical cytogenetics and genomics and has been a laboratory director at Invitae since November 2017. He was serving as the VP of Medical Affairs and laboratory director at CombiMatrix until the company’s acquisition by Invitae in late 2017. Dr. Sahoo completed his medical training in India before moving to the US for postdoctoral training at Duke University, following which he moved to Baylor College of Medicine for doing his ABMG fellowship. He stayed on as a faculty and clinical laboratory director in the Human and Molecular Genetics department at Baylor until July 2008. He subsequently served in senior positions at Signature Genomics (Spokane, WA) and Quest Diagnostics Nichols Institute (San Juan Capistrano), CA) before joining CombiMatrix in April 2014. His work included the early design, validation, and implementation of chromosomal microarrays as a diagnostic tool in clinical genetics, and he has been closely associated with the discovery of a number of recurrent microdeletion-microduplication syndromes.
Matteo Vatta
Dr. Vatta is a clinical molecular geneticist with more than 20 years of experience in cardiovascular genetic research and 10 years in cardiovascular genetic diagnostics. Before joining Invitae, Dr. Vatta was the Director of the Cardiovascular Genetics Section at the Indiana University Molecular Genetics Diagnostic Laboratory in the Division of Diagnostic Genomics and Associate Professor of Clinical Medical and Molecular Genetics at Indiana University. There, he led the development and launch of next-generation sequencing analysis for clinical testing. Dr. Vatta received his Ph.D. in molecular genetics from the Scuola Internazionale Superiore di Studi Avanzati/International School of Advanced Studies (SISSA/ISAS) in Trieste, Italy, with a thesis on the “Molecular Genetic Approach to the Study of Dilated Cardiomyopathy." Subsequently, Dr. Vatta did his post-doctoral fellowship at the Department of Pediatrics (Cardiology) at Baylor College of Medicine, Houston, TX with particular focus on cardiomyopathies and channelopathies. Later, Dr. Vatta completed the Clinical Molecular Genetics fellowship at the Department of Huma and Molecular Genetics at Baylor College of Medicine, accredited for the American Board of Medical Genetics and Genomics certification.
Lauren Walters-Sen
Dr. Walters-Sen is board certified in clinical cytogenetics and clinical molecular genetics by the American Board of Medical Genetics and Genomics. Prior to joining Invitae, Dr. Walters-Sen was an assistant lab director of the Laboratory for Genetics and Genomics at Cincinnati Children’s Hospital and Medical Center, where she was instrumental in implementing an algorithmic testing process for children with neurodevelopmental disorders. She also spent time at Good Start Genetics, where she was a key member of the team that brought EmbryVu, now Invitae’s PGT, to market. Dr. Walters-Sen completed her clinical cytogenetics and clinical molecular genetics fellowships at Nationwide Children’s Hospital in 2013. She received her doctorate in human genetics from Vanderbilt University in 2011. Dr. Walters-Sen has a special interest in prenatal and early postnatal genetic diagnostics.
Ian Wilson
Dr. Wilson is a board-certified molecular geneticist in both Canada and the United States. He received his undergraduate degree in medical laboratory science and his Ph.D. in the field of cancer genetics from the University of British Columbia, which he followed with a molecular genetics fellowship at the Children's and Women's Hospital of British Columbia and the British Columbia Cancer Agency. Prior to joining Invitae, Dr. Wilson was the Associate Laboratory Director at Fulgent Diagnostics, where he was involved in many aspects of establishing the molecular diagnostic laboratory. In addition, he was a scientific editor at N-of-One, Inc., a precision-medicine company in the oncology market.
Tom Winder
Dr. Winder has been involved with genetic diagnosis of neuromuscular disorders for 15 years. Prior to joining Invitae, he was co-director at PreventionGenetics, where he oversaw neuromuscular testing. His efforts there led to the availability of affordable tests for inherited muscle and nerve disorders, many of which had previously been unavailable in North America. Dr. Winder completed his medical genetics training in 2002 at the University of Iowa and is certified by the American Board of Medical Genetics and Genomics in clinical molecular genetics. He was an assistant professor in the department of pathology at the University of Iowa; he was also co-director of the university's molecular pathology laboratory until 2007.
Mei Zhu
Dr. Zhu is board certified in clinical molecular genetics and has more than 18 years of experience in molecular genetics and over six years of experience in clinical molecular genetics. Prior to joining Invitae, Dr. Zhu was laboratory director at Good Start Genetics, where she performed clinical duties on next-generation sequencing-based preimplantation and carrier screening for inherited disorders. Dr. Zhu received her medical training from Tianjin Medical University in China and practiced as an ENT physician there prior to coming to the US. She then earned a Master of Science in human pathology and a doctorate in cell and molecular biology from Michigan State University, where she studied the molecular mechanisms of hearing loss and lysosomal storage diseases. She then spent two years doing her postdoctoral fellowship in the department of genetics at Harvard Medical School with a focus on the identification of genes causing congenital heart disorders using next-generation sequencing. There, she gained extensive experience in designing and developing next-generation sequencing-based disease panels. Afterward, Dr. Zhu completed her clinical molecular genetics training at Boston University.

Advisory Board

Michael J. Ackerman
M.D., Ph.D.
Dr. Ackerman is the Windland Smith Rice Cardiovascular Genomics Research Professor and Professor of Medicine, Pediatrics, and Pharmacology at the Mayo Clinic in Rochester, Minnesota. He is a consultant in cardiovascular diseases and pediatric cardiology and serves as director of Mayo Clinic’s Long QT Syndrome Clinic and the Windland Smith Rice Sudden Death Genomics Laboratory. He is co-director of Mayo’s translational genomics program in hypertrophic cardiomyopathy. Dr. Ackerman was born and raised in Iowa. He graduated valedictorian from Sheldon High School in 1984 and graduated summa cum laude from Luther College in Decorah, Iowa, in 1988 with majors in chemistry and mathematics. He received his M.D. and Ph.D. degrees from Mayo Medical School and Mayo Graduate School in 1995 and completed residency (pediatrics) and fellowship (pediatric cardiology) training in the Mayo Graduate School of Medicine in 2000. He has been a faculty member of Mayo Clinic since July 2000. As director of Mayo Clinic’s Long QT Syndrome/Inherited Arrhythmia Syndrome Clinic and Windland Smith Rice Sudden Death Genomics Laboratory, Dr. Ackerman strives to fulfill the two-fold objective of medical education and biomedical research as stated by Dr. Charles H. Mayo: “to heal the sick and to advance the science.”
Michael Alper
Dr. Michael Alper co-founded Boston IVF in 1986. He is double board-certified in Obstetrics and Gynecology as well as Reproductive Endocrinology and Infertility. He specializes in all aspects of infertility care. Dr. Alper is also an Associate Clinical Professor in the Department of Obstetrics, Gynecology, and Reproductive Biology at Harvard Medical School, where he teaches the next generation of fertility experts and performs crucial research to improve future care. He contributes to infertility articles, abstracts, and letters, and actively lectures at scientific meetings throughout the world. He is the author of The Boston IVF Handbook of Infertility, which is widely considered the preeminent print resource in the field of reproductive medicine. His continued dedication to improving the efficiency of fertility treatments has led to Boston IVF becoming the first ISO-certified IVF clinic in North America. This prestigious designation underscores his commitment to quality and safety in the field. Dr. Alper grew up in Canada and received his undergraduate and medical school degrees from McGill University in Montreal. Following medical school, he spent an internship year at the University of Toronto before being accepted to the Harvard Medical School Obstetrics and Gynecology Residency Program at the Beth Israel Hospital in Boston. After completing his OB/GYN residency, Dr. Alper returned to Canada to focus on clinical research in reproductive medicine at the University of Ottawa. Subsequently, he returned to Boston to complete his research fellowship in reproductive endocrinology in the Department of Obstetrics and Gynecology at Beth Israel Hospital and the Harvard Medical School in Boston. IVF technology was in its very early stages in 1986 when Dr. Alper co-founded Boston IVF, one of the nation’s first free-standing IVF centers. The goal was to transform state-of-the-art technologies into a patient-centered, outpatient setting. Dr. Alper has lead Boston IVF as its Medical Director for over 20 years and remains instrumental in helping to make it one of the most well-respected, academically-affiliated IVF centers in the world.
Olaf Bodamer M.D.,
Dr. Bodamer is a board certified pediatrician, clinical and biochemical geneticist who is at the nexus of patient centered, translational science where “bench meets the bedside.” As associate chief of the Division of Genetics and Genomics he provides leadership to its clinical operation and the clinical diagnostic laboratory. Dr. Bodamer is also an associate professor at Harvard Medical School. Following his postdoctoral training at Baylor College of Medicine, Dr. Bodamer has been tenured faculty at the University Medical School Vienna and more recently at the University of Miami where he was professor of human genetics, molecular biology and biochemistry. His research focuses on the dynamic integration and application of multiple “OMICS” (genome, transcriptome, methylome, metabolome, microbiome) to different disease and health states including selected orphan diseases, premature birth, and pregnancy. Using a systems biology approach his research aims to identify factors that critically impact phenotypic severity and variability while being amenable to therapeutic interventions. Dr. Bodamer is member of several editorial boards and has published more than 140 peer-reviewed articles and book chapters.
Julie Cohen
Sc.M., CGC
Julie is a senior genetic counselor at the Kennedy Krieger Institute in Baltimore, Maryland, where she counsels and participates in the diagnostic evaluation and management of pediatric and adult patients with a wide range of neurogenetic disorders and developmental disabilities. She is also involved in clinical research in the Hugo W. Moser Research Institute at KKI. Her areas of expertise include leukodystrophies, myopathies, movement disorders, epilepsy, intellectual disability, and autism. Julie and her colleagues were early adopters of whole-exome sequencing, and she has extensive experience with clinical implementation of this technology. Julie is a key opinion leader in her field and frequent speaker at national meetings. Julie received her Master’s degree from the Johns Hopkins/National Human Genome Research Institute Genetic Counseling Training Program, for which she now serves on the Executive Committee and is actively involved in mentoring and clinical supervision of students. Julie is a member of the National Society of Genetic Counselors and is certified by the American Board of Genetic Counseling.
Laurie Demmer
M.D., M.A.
Dr. Demmer is currently the Director of Genetics and the Associate Pediatric Residency Program Director at Levine Children’s Hospital in Charlotte, NC. She also serves as a member of the Board of Directors of the ACMG and has been a past Chair of the Program Committee as well as a member of the MOC Committee and Membership Committee. She is a current member of the ABMS Committee on Continuing Certification. Previously, Dr. Demmer served as President of the ABMGG, as well as President of the APHMG. She was President of the Medical Genetics Residency Program Directors Group and is the current Chair of the ACGME Review Committee for Medical Genetics and Genomics. Dr. Demmer divides her time between Clinical Genetics, Medical Education and Clinical Research. She is an author on over 75 peer-reviewed works including publications, reviews, and book chapters. Her research interests include dysmorphology, applications of genetic and genomic testing in clinical practice, ethics, and medical education. Dr. Demmer graduated from Dartmouth College and then received her M.D. and M.A. (Biochemistry) from Washington University in St. Louis. Subsequently she completed her Pediatrics Residency at St. Louis Children’s Hospital and Medical Genetics Fellowship at Washington University. Dr. Demmer joined the University of Massachusetts Medical School where she was the Division Chief in Genetics from 1995 to 2002. She then moved to Tufts University School of Medicine where she served as Professor of Pediatrics, Division Chief of Genetics and Metabolism, Program Director for the Genetics Residency, and Director for the Medical Student Genetics Course until 2012.
Eric Green
M.D., Ph.D.
Dr. Green is a physician-scientist and entrepreneur with more than 10 years of experience building and operating innovative scientific organizations. He is currently an Entrepreneur in Residence at Third Rock Ventures, where he leads the formation of startup biotechnology companies. Eric previously was the head of translational research at MyoKardia, a biotechnology company discovering and developing drugs for patients with genetic heart diseases. Prior to joining Third Rock, Eric co-founded ILab Solutions, a provider of web-based software and services designed to streamline scientific research, which was acquired by Agilent and Respira Design, a medical device company treating asthma in the developing world, which won the Stanford $50K Entrepreneurship Challenge. He is a board-certified physician with training in internal and cardiovascular medicine from Brigham and Women’s Hospital. He received an M.D. and Ph.D. in Chemical and Systems Biology from Stanford University and an A.B. in History and Science from Harvard College.
Heather Hampel
Heather has been the associate director for biospecimen research for The Ohio State University Comprehensive Cancer Center (OSUCCC) since January 2015. She is a professor in the Department of Internal Medicine and associate director of the Division of Human Genetics. She is also a professor in the Department of Internal Medicine and associate director of the Division of Human Genetics. She is the PI of both the Total Cancer Care® (TCC) protocol and the Ohio Colon Cancer Prevention Initiative (OCCPI). Heather is an internationally recognized cancer genetic counselor with a particular emphasis on universal tumor screening for Lynch syndrome. Heather was on the Board of Directors of the National Society of Genetic Counselors from 2003 to 2004 and of the American Board of Genetic Counseling from 2006 to 2011, serving as president in 2009 and 2010. She is currently an elected council member of the Collaborative Group of the Americas on Inherited Colorectal Cancer. Heather completed her bachelor of science degree in molecular genetics at The Ohio State University in 1993. She attained her master’s degree in human genetics from Sarah Lawrence College in 1995. She received certification from the American Board of Genetic Counseling in 1996. She worked as a cancer genetic counselor at Memorial Sloan-Kettering Cancer Center in Manhattan before moving to The Ohio State University in 1997.
Elizabeth McNally
M.D., Ph.D.
Dr. McNally is a cardiologist and geneticist who works with patients and their families, helping them understand genetic risks for inherited cardiovascular disorders. She joined Northwestern University in September 2014 to lead its Center for Genetic Medicine, which is committed to exploring and defining genetic variability and to using all available information on the human genome to better inform healthcare decisions. Her group has devised new methods for surveying human genetic data and has established animal and cell-based models of genetic diseases. Dr. McNally is supported by the National Institutes of Health, the Department of Defense and private foundations. She was president of the American Society for Clinical Investigation from 2011 to 2012 and serves as an advocate through her work with the Muscular Dystrophy Association, Parent Project Muscular Dystrophy and the American Heart Association. Dr. McNally received an Established Investigator Award by the AHA and a Distinguished Clinical Scientist Award by the Doris Duke Charitable Foundation.
Mary Norton
Dr. Mary Norton is a perinatologist and geneticist, and is Professor in the Department of Obstetrics, Gynecology, and Reproductive Sciences at the University of California, San Francisco. She is Director of the Prenatal Diagnostic Center at UCSF and co-Director of the UCSF Center for Maternal-Fetal Precision Medicine. She is also the President of the Perinatal Quality Foundation, past President of the Society for Maternal-Fetal Medicine, and Chair of the Publications Committee of the SMFM. Her clinical and research interests include genetic testing and its application to prenatal screening and diagnosis. She focuses on the unique aspects of translating new technologies into improved care for pregnant women and their fetuses. She is a co-Principal Investigator on a current multicenter collaborative study of whole-exome sequencing for the assessment of fetal structural abnormalities. Much of her recent research has involved cell free DNA screening and implementation into prenatal care.
Sulagna Saitta
M.D., Ph.D., FACMG
Dr. Saitta is a pediatric geneticist and Clinical Director of the Center for Personalized Medicine at Children’s Hospital Los Angeles and Associate Professor of Clinical Pathology at Keck USC School of Medicine. She completed her undergraduate studies with honors at Johns Hopkins University receiving the Martin G. Larrabee Award for outstanding research in biophysics, followed by M.D./Ph.D. training in the Gibbon Scholars Program at Thomas Jefferson University in Philadelphia. She trained in pediatrics at St. Christopher’s Hospital for Children and in clinical genetics at Children’s Hospital of Philadelphia, where her research involved work on disorders of chromosome 22q, its structure, and sequence for the Human Genome Project. She remained as faculty at CHOP/University of Pennsylvania from 2001 to 2011 with NHLBI supported research on the mechanisms of genomic disorders and congenital cardiac defects. She was recruited by the late Dr. David Rimoin as Associate Director of Clinical Genetics at Cedars-Sinai and Associate Professor of Pediatrics at UCLA. In 2015, she joined Children’s Hospital Los Angeles, where she provides clinical support and interpretation for whole exome, chromosome microarray, and focused exome testing for constitutional disorders and pediatric cancer testing using the newly developed OncoKIDS RNA-DNA platform. Her research interests include genomic disorders, particularly of chromosome 22q11, which is an area of her expertise and focus of publications. She directs the multidisciplinary 22q11 disorders clinic at UCLA and participates in program project studies involving these disorders at UCLA and as part of the 22q International Consortium.
Raman Sankar
M.D., Ph.D.
Dr. Sankar is Professor of Neurology and Pediatrics and Chief of Pediatric Neurology at the David Geffen School of Medicine at the University of California, Los Angeles. He holds the Rubin Brown Distinguished Chair in Pediatric Neurology. He is a member of an active pediatric epilepsy program at UCLA that is well known internationally for many advances in pediatric epilepsy surgery. Dr. Sankar has authored more than 250 research articles, reviews, and book chapters. He has also co-edited textbooks on pediatric epilepsy as well as the applications of basic science in epilepsy research. He is a member of the editorial board of Epilepsy & Behavior and has served on the editorial boards of Epilepsia and Epilepsy Currents. He is an elected Fellow of the American Academy of Neurology and an elected member of the American Pediatric society. Dr. Sankar is a member of the Professional Advisory Board of the Epilepsy Foundation. He has been a member of the Commission on Neurobiology of the International League Against Epilepsy and presently serves on the Commission’s Task Force for the Workshop on the Neurobiology of Epilepsy (WONOEP). Dr. Sankar is a graduate of the University of Bombay, India. He obtained his Ph.D. from the University of Washington in Medicinal Chemistry and was involved in teaching and research for several years prior to entering Tulane Medical School, where he obtained his M.D. He trained in pediatrics at the Children’s Hospital of Los Angeles. He completed his training in neurology and pediatric neurology at UCLA.
Joseph Sullivan
Dr. Sullivan is Associate Professor of Neurology and Pediatrics at the University of California San Francisco and Director of the UCSF Pediatric Epilepsy Center at Benioff Children’s Hospital. As a pediatric epilelptologist, he cares for all children with various forms of epilepsy but has specific clinical and research interests in Dravet Syndrome, PCDH19-related epilepsy and the evaluation of children for epilepsy surgery. Dr. Sullivan is a member of the American Epilepsy Society and serves on a number of boards including the Medical Advisory Board for the Dravet Syndrome Foundation, Chair of the PCDH19 Alliance Scientific Advisory Board, Chair of the Pediatric Epilepsy Research Consortium (PERC) Steering Committee, and a past Chair of the Epilepsy Foundation of Northern California Board of Directors, He is a graduate of Union College and Albany Medical College. He completed a pediatric residency at the Children’s Memorial Hospital of Northwestern University in Chicago, where he spent an additional year as pediatric chief resident. He then completed his Neurology, Child Neurology, and Epilepsy training at the Hospital of University of Pennsylvania and The Children’s Hospital of Philadelphia before taking his first faculty position at UCSF in 2007. He lives in Marin with his wife Sara, a pediatrician turned Urban Zen Integrative Therapist, and their two daughters Grace and Ella.
Eliezer Van Allen
Dr. Van Allen is an Assistant Professor of Medicine at Harvard Medical School, a clinician at Dana-Farber/Partners Cancer Care, and an Associate Member at the Broad Institute of MIT and Harvard. His research focuses on computational cancer genomics, the application of new technologies such as massively parallel sequencing to precision cancer medicine, and resistance to targeted therapeutics. As both a computational biologist and medical oncologist, he has specific expertise in clinical computational oncology and the development of algorithms to analyze and interpret genomic data for clinically focused questions. Overall, his research will make important contributions to the field of precision cancer medicine and resistance to targeted therapeutics via expertise and study in translational and clinical bioinformatics. Originally from Los Angeles, CA, he studied Symbolic Systems at Stanford University, obtained his M.D. from UCLA, and completed a residency in internal medicine at UCSF before coming to Boston and completing a medical oncology fellowship at the Dana-Farber/Partners Cancer Care program.