Basic Training

Basic Training in Reproductive Medical Genetics

Basic Training logo

Columbia University, the University of California-San Francisco and the Perinatal Quality Foundation are pleased to offer, “Basic Training: A Course in Reproductive Medical Genetics”.

Basic Training provides eight weeks of genetics education developed for Maternal Fetal Medicine and Reproductive Endocrinology and Infertility fellows to enhance the clinical training available at local programs. The comprehensive curriculum has been designed with pre-recorded lecture, workshops, case presentations, quizzes and supplemental reading that is self-paced, allowing integration into fellowship schedules. Fellows will also have case experience with their local genetics faculty each week. While the majority of the curriculum can be completed on your schedule, you’ll also have weekly LIVE Rounds with the Geneticists and 1-2 LIVE workshops each week.

This genetic education resource was developed in academic year 2020-2021 with over 100 Maternal Fetal Medicine fellows participating. Explore this comprehensive overview of topics covered and outcomes from the inaugural course. We look forward to including crucial content for Reproductive Endocrinology and Infertility fellows. Watch this website for updates on the expanding topics in reproductive medicine!

Registration

The Basic Training curriculum is comprehensive and progressive; we suggest that fellows begin with weeks 1-4 before taking weeks 5-8.

Weeks 1-4

  • October 4-29, 2021
  • Apply by September 15, 2021
  • $300 per fellow

Plan to also complete

Weeks 5-8

  • February 28-March 25, 2022
  • Apply by February 15, 2022
  • $300 per fellow

REGISTRATION

We are grateful for the shared vision for physician education in medical genetics.

The Basic Training faculty have donated their time to this effort.

Unrestricted educational grants from the following companies have made this course possible.

Illumina
Natera
Integrated Genetics
Invitae
Fulgent Therapeutics

With additional in-kind support from

Perinatal Quality Foundation
Columbia University
University of California, San Francisco

Curriculum

  • Recorded Lecture (60-90 minutes) Monday-Friday
  • Workshop Activity (60-120 minutes) Monday-Thursday, see LIVE dates below
  • Case Based Learning On Site with your local genetics professionals
  • LIVE! Rounds with the Geneticists (Fridays 2-4pm Eastern)
  • Reading and Viewing Assignments
  • Web Based Resources
  • Case of the Day Quiz (Monday-Wednesday)
  • Quiz of the Week (Thursday)

October 4-29, 2021

  • Week 1 Principles of Genetics
  • Week 2 Gene Structure and Function
  • Week 3 Cytogenetics
  • Week 4 Molecular Genetics

Fellows are requested to join these sessions live; all events listed in Eastern time

Wednesday, October 6, 2021, 1-3pm – LIVE Workshop: Pedigree Construction and Risk Analysis

Friday, October 8, 2021, 2-4pm – LIVE Rounds with the Geneticists

Wednesday, October 13, 2021, 1-3pm – LIVE Workshop: Mechanisms of Disease Case Series

Friday, October 15, 2021, 2-4pm – LIVE Rounds with the Geneticists

Wednesday, October 20, 2021, 1-3pm – LIVE Workshop: Visualize and Interpret FISH, Karyotype, and Microarray Results

Friday, October 22, 2021, 2-4pm – LIVE Rounds with the Geneticists

Tuesday, October 26, 2021, 1-3pm – LIVE Workshop: Whole Exome/Whole Genome Sequencing Curation

Thursday, October 28, 2021, 1-3pm – LIVE Workshop: Prioritizing Variants Based on Phenotype

Friday, October 29, 2021, 2-4pm – LIVE Rounds with the Geneticists

February 28-March 25, 2022

  • Week 5 Prenatal Screening and Diagnosis I
  • Week 6 Prenatal Screening and Diagnosis II
  • Week 7 Genetics Puttanesca
  • Week 8 Cancer Genetics

Fellows are requested to join these sessions live; all events listed in Eastern time

Wednesday, March 2, 2022, 1-3pm – LIVE Workshop: Unusual NIPT Results

Friday, March 4, 2022, 2-4pm – LIVE Rounds with the Geneticists

Wednesday, March 9, 2022, 1-3pm – LIVE Pathology and the Fetal Phenotype

Friday, March 11, 2022, 2-4pm – LIVE Rounds with the Geneticists

No LIVE workshop for week 7

Friday, March 18, 2022, 2-4pm – LIVE Rounds with the Geneticists

Wednesday, March 23, 2022, 1-3pm – LIVE Counseling for Secondary Findings

Friday, March 25, 2022, 2-4pm – LIVE Rounds with the Geneticists

Course Directors

Photo of Mary Norton

UC San Francisco

Dr. Mary Norton is a perinatologist and geneticist, and is a Professor in the Department of Obstetrics, Gynecology and Reproductive Sciences at UCSF. She is Director of the Division of Maternal-Fetal Medicine and co-Director of the UCSF Center for Maternal-Fetal Precision Medicine. 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 genetic and genomic technologies into improved care for pregnant women and their fetuses. Much of her research has involved cell free DNA screening and implementation into practice, as well as patient and provider education regarding prenatal genetics’ generally, and cfDNA specifically.

Photo of Ronald Wapner MD

Columbia University

Dr. Wapner is the Director of Reproductive Genetics and the Vice Chair of Research in Obstetrics and Gynecology for Columbia University Irving Medical Center. 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 400 publications and he has been an active investigator in the area of Maternal-Fetal Medicine and recently led a multicenter study evaluating the accuracy, efficacy, and clinical advantages of prenatal diagnosis using microarray analysis. He has had a significant role in the development of multidisciplinary research studies and clinical research centers throughout his career.

Course Facilitators

Photo of Janice G. Edwards, MS, CGC

University of South Carolina

Janice G. Edwards, MS, CGC serves as Director of the University of South Carolina School of Medicine Genetic Counseling Program and has over 35 years in clinical practice focused on prenatal genetics and more recently, Huntington disease. An experienced genetic counselor educator, she is also Founding President of the Transnational Alliance for Genetic Counseling, an international network of genetic counselor educators.. She has directed genetic education conferences and symposia regionally, nationally and internationally. A skilled facilitator, Ms. Edwards has also worked with several national organizations to build consensus around emerging issues in reproductive genetics. She is committed to supporting clinicians and healthcare systems in the integration of genetics and genomics in medicine.

Photo of Melissa Stosic, MS, CGC​

Columbia University

Melissa has been working in various arenas of women’s healthcare and genetics for the past 15 years. She began her career working with patients as a prenatal genetic counselor and coordinator at Columbia University. While there, she transitioned into research as lead coordinator on several hallmark studies focused on validating new technology to improve prenatal diagnosis. Melissa then spent 5 years at Natera in multiple roles including Director of Medical Education. There, she was responsible for clinical input and signoff for non-invasive prenatal testing (NIPT) product development and expansion, created and led a scientific advisory board and speakers bureau, lectured to providers across the globe about NIPT and expanded carrier screening, and led the medical science liaison team including reporting of high risk and atypical results to providers. Melissa then returned to Columbia to lead a reproductive genetics service that provided prenatal and cancer counseling and genetic testing guidelines within OBGYN. She was an active member of ClinGen’s CaDRe (Consent and Disclosure Recommendations) committee for many years. Currently, she is SVP of Medical Affairs at DotLab, which focuses on non-invasive diagnosis of endometriosis. Melissa received her BS in Biology from Rowan University and her MS in Genetic Counseling from Arcadia University.

Faculty

photo of Vimla Aggarwal, MD

Columbia University

Dr. Vimla Aggarwal is an American Board of Medical Genetics and Genomics (ABMGG) certified Clinical Molecular Geneticist and Cytogeneticist. She directs the Precision Genomics Laboratory, a CLIA- certified laboratory at Columbia University Irving Medical Center. She has been deeply involved in the transition of genomic technologies (like chromosome microarrays, genotyping arrays, next generation sequencing panels as well as whole exome sequencing) from a research space to a clinical setting. Her research interests lie in the elucidation of the molecular basis for undiagnosed genetic diseases, as well as methods to improve variant classification and interpretation.

Columbia University

Paul S. Appelbaum, M.D. is the Elizabeth K. Dollard Professor of Psychiatry, Medicine, and Law, and Director, Center for Law, Ethics, and Psychiatry, Department of Psychiatry, College of Physicians and Surgeons, Columbia University. He directs Columbia’s Center for Research on Ethical, Legal, & Social Implications of Psychiatric, Neurologic, & Behavioral Genetics. The author of many articles and books on law and ethics in clinical practice and research, over the last decade much of his research has focused on the ethical and psychosocial impact of advances in genetics. Dr. Appelbaum is a Past President of the American Psychiatric Association and the American Academy of Psychiatry and the Law, and now chairs the APA’s DSM Steering Committee and is a member of the Standing Committee on Ethics of the World Psychiatric Association. He has been elected to the National Academy of Medicine. Dr. Appelbaum is a graduate of Columbia College, received his M.D. from Harvard Medical School, and completed his psychiatry residency at the Massachusetts Mental Health Center/Harvard Medical School.

Dr Biggio

Ochsner Health

Dr. Biggio is the System Chair for the Women’s Service Line and System Chair for Maternal Fetal Medicine at Ochsner Health in New Orleans, LA. He earned his Doctor of Medicine from the University of Alabama at Birmingham (UAB) School of Medicine where he also completed a residency in Obstetrics and Gynecology as well as a combined fellowship in Maternal Fetal Medicine and Clinical Genetics. He is board-certified in obstetrics and gynecology, maternal fetal medicine, and clinical genetics. He also earned a Master’s of Science in Healthcare Quality and Safety from the UAB School of Health Professions. Prior to joining Ochsner Health in 2017, he was Director of the Division of Maternal Fetal Medicine in the Department of Obstetrics and Gynecology at UAB where he was also the Vice-Chair for Research and Quality and the Maternal Fetal Medicine Fellowship Director.

His major research interests have focused on the health disparities and genetics of prematurity, genetic screening, and preterm birth prevention. He was a previous recipient of the National Faculty Award from the ACOG Council on Resident Education in Obstetrics and Gynecology. He was elected to membership in the American Gynecologic and Obstetric Society in 2015. He is a member in multiple national professional organizations including ACOG, where he has previously chaired the Committee on Genetics, and SMFM, where he is currently a member of the Board of Directors, the Publications Committee, and the Program Committee. He was also recently elected to serve on the American Board of Obstetrics and Gynecology Maternal Fetal Medicine Division where he serves as aboard examiner for both general and subspecialty boards.

Kara Bui is a board-certified genetic counselor with experience providing both prenatal and cancer genetic counseling services. She earned in her Masters in Genetic Counseling from the University of South Carolina—Columbia (2003), a certificate in Clinical Cancer Genomics from the City of Hope (2007), and a graduate certificate in Applied Bioinformatics from Penn State University (2017). Kara currently specializes in somatic variant annotation and is employed by Caris Life Sciences to screen solid tumor profiles for suspected germline variants. She also has held several leadership positions in the National Society of Genetic Counselors and American Board of Genetic Counseling.

UCL Great Ormond Street Institute of Child Health

Lyn Chitty, Professor of Genetics and Fetal Medicine at the UCL Great Ormond Street Institute of Child Health and Great Ormond Street NHS Foundation Trust, has published extensively on prenatal diagnosis and ultrasound screening of fetal abnormalities. Recently her main research interest has been around the use of circulating cell free DNA. She led an NIHR programme -Rapid Accurate Prenatal non-Invasive Diagnosis (RAPID) – which resulted in clinical implementation of NIPD for monogenic diseases. She continues to work on the implementation of new molecular techniques to improve prenatal diagnosis through implementation of rapid exome sequencing and extended development of NIPD. Her work includes developing methods to ensure informed parental consent for these more complex tests. She is an NIHR Senior Investigator, Editor-in-Chief of the journal Prenatal Diagnosis, President of the International Society of Prenatal Diagnosis and Medical Director for the London North Genomic Lab Hub, one of seven delivering genomic testing for England.

Photo of Wendy Chung, MD, PhD

Columbia University

Wendy Chung, M.D., Ph.D. is a clinical and molecular geneticist andthe Kennedy Family Professor of Pediatrics and Medicine. She received her B.A. in biochemistry and economics from Cornell University, her M.D. from Cornell University Medical College, and her Ph.D. from The Rockefeller University in genetics. Dr. Chung directs NIH funded research programs in human genetics of obesity, breast cancer, pulmonary hypertension, autism, and birth defects including congenital diaphragmatic hernia and congenital heart disease. She leads the Precision Medicine Resource in the Irving Institute At Columbia University. She has authored over 350 peer reviewed papers and 50 reviews and chapters in medical texts. She was the recipient of the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, a career development award from Doris Dukeand the NY Academy of Medicine Medal for Distinguished Contributions in Biomedical Science. Dr. Chung is renowned for her teaching and mentoringand received Columbia University’s highest teaching award, the Presidential Award for Outstanding Teaching. She was the original plaintiff in the Supreme Court case that overturned the ability to patent genesand served on the Institute of Medicine Committee on Genetic Testing. Dr. Chung enjoys the challenges of genetics as a rapidly changing field of medicine and strives to facilitate the integration of genetic medicine into all areas of health care in a medically, scientifically, and ethically sound, accessible, and cost effective manner.

Pe'er Dar, MD

Albert Einstein College of Medicine

Pe’er Dar, MD, is Director of Fetal Medicine and OBGYN Ultrasound at Montefiore Medical Center and Professor of Obstetrics and Gynecology and Women’s Health at Albert Einstein College of Medicine. Dr. Dar’s also leads the Fetal Medicine and Surgery Team at Montefiore. He particularly specializes in diagnosis and management of medical and structural abnormalities in the fetus and in complicated twin and triplet pregnancies. His expertise includes detailed ultrasound ultrasonography including fetal echocardiography and neurosonography as well as performing in-utero fetal surgeries such as fetoscopic laser surgery for monochorionic twins with twin-to-twin transfusion syndrome, in-utero blood transfusion and in-utero drainage and shunt procedures. Dr Dar is also experienced in performing amniocentesis, chorionic villous sampling (CVS) and multifetal selective reduction for multiple pregnancies.

Dr. Dar earned his Doctor of Medicine degree from Tel-Aviv University in Tel-Aviv, Israel in 1987. Between 1992-1998 he completed a residency in obstetrics and gynecology with a subspecialty in Maternal Fetal Medicine at Assaf Harofe Medical Center, Tel-Aviv University, Israel. He then joined Montefiore-Einstein and completed a fellowship in Medical and Reproductive Genetics. After spending two years as an attending-specialist in the field of prenatal diagnosis in Israel, he completed a residency in obstetrics and gynecology at Montefiore-Einstein. In 2007, he trained in fetal surgery in Fetal Surgery Centers in France and Belgium.

Dr. Dar is board certified in both Obstetrics and Gynecology and Clinical Genetics and is a member of several professional societies including the Society of Maternal and Fetal Medicine, International Fetal Medicine and Surgery Society and the International Society of Ultrasound in Obstetrics and Gynecology. He is currently the principal investigator in several studies including international multicenter studies. His research focus is in fetal medicine and surgery, non-invasive prenatal screening and placenta accreta spectrum. Dr Dar has been regularly listed among Castle Connolly Top Doctors for obstetrics and gynecology in the New York Metro area.

University of Pennsylvania

Lorraine Dugoff, MD is a Professor of Obstetrics and Gynecology at the University of Pennsylvania. She is board-certified in Maternal-Fetal Medicine and Clinical Genetics and is the Director of the Division of Reproductive Genetics at the University of Pennsylvania. Dr. Dugoff is a co-investigator for the University of Pennsylvania MFMU, the site PI for the CHAP trial and the PI for several clinical trials focused on the application of emerging genetic technologies to clinical care.

She served on the SMFM Board of Directors and is currently the Chair of the SMFM Document Review Committee and the liaison for the ACOG Committee on Genetics. She is the co-director of the Reproductive Screening Special Interest Group for the International Society of Prenatal Diagnosis as well as vice-president and a board member for the Perinatal Quality Foundation.

Oregon Health & Science University

Cori Feist is a board-certified genetic counselor with 20 years’ experience providing pre-conceptual and prenatal genetic counseling services at Oregon Health & Science University (OHSU) in Portland, Oregon. She serves as the genetic counselor in the OHSU Doernbecher Children’s Hospital Fetal Therapy Program and specializes in caring for families expecting babies with birth defects and genetic disorders as they transition from pregnancy to the newborn period. She enjoys building long-term relationships with families and supporting and advocating for her patients. Cori is also active in education and policy making at the state and national levels and hold several leadership positions within the National Society of Genetic Counselors (NSGC).

Columbia University

Stephanie Galloway, MS, CGC is a genetic counselor and lecturer at Columbia University Irving Medical Center with the department of Women’s Genetics. She counsels women and families throughout their family planning journey, working with CUIMC’s high risk fetal Center for Prenatal Pediatrics as well as Columbia University Fertility Center with the Pre-Pregnancy Genetics Programs. In additional to clinical counseling, Stephanie actively participates in and coordinates reproductive genetic research as well as educates a variety of medical learners.

Kelly Gilmore, MS,CGC

University of North Carolina at Chapel Hill

Kelly Gilmore is a board-certified genetic counselor at University of North Carolina Chapel Hill. She graduated from University of North Carolina at Greensboro’s genetic counseling program in 2002. She is a clinical prenatal genetic counselor and has a special interest in the diagnosis of fetal genetic conditions through exome or genome sequencing. She has been the study coordinator for a fetal exome sequencing study at UNC since 2015 and is currently the study coordinator for a multi-center prenatal genome sequencing study. She has co-authored several publications on prenatal exome sequencing, counseling challenges, and parental perceptions of this technology.

Columbia University

Jessica is an ABGC board-certified genetic counselor and assistant professor of genetic counseling with 12+ years of clinical, research, and industry related experience in prenatal genetic counseling and testing. In her clinical work, she has witnessed how non-invasive aneuploidy screening, diagnostic testing via microarray, and pan-ethnic screening has transformed prenatal practice, making complex genetics test part of primary obstetrical practice. Recently, she successfully led Columbia’s fetal exome sequencing study published in Lancet, the stillbirth exome study published in the NEJM, and is the primary manager for the NICHD multi-center study PrenatalSEQ, aiming to study the use of genomic sequencing in pregnancy to change post-natal management. In these research roles, she consents patients, curates variants, and assesses genotype-phenotype correlations with the goal of ultimately communicating results to patients to impact clinical management.

TOMA Advanced Biomedical Assays S.p.A., Impact Lab

Francesca Romana Grati is a Biologist, Clinical Laboratory Geneticists with a master’s degree in human Pathology and Heredity. She is Chief Scientific Officer at TOMA Advanced Biomedical Assays S.p.A. , Impact Lab (Busto Arsizio, Italy).

The is currently contracting Professor at the Postgraduate Specialization school in medical genetics, Laboratory Technology SIG chair at International Society for Prenatal Diagnosis and therapy (ISPD), Chair of the Cytogenetics and cytogenomics working party of the Italian Society of Human Genetics (SIGU) and member of the editorial board of Prenatal Diagnosis journal. From 2016 to 2020 she was Member of Board of Directors at ISPD. She’s also an Advisory Board Member for Roche and Menarini Biomarkers.

Dr. Grati’s special interests are in prenatal diagnosis and fetal genetics. Her research is mainly focused on the understanding of the epidemiology of chromosome abnormalities in prenatal population, epigenetics of placenta, feto-placental mosaicisms and their impact on pre-implantation genetic screening, prenatal diagnosis, and non-invasive prenatal testing. She is also committed to the evaluation of new clinical technologies, their setup and validation and implementation of clinical laboratory guidelines in practice as she believes that the education on Quality in the laboratories could reduce inequalities in care across the NHS. In 2011 she was consultant for the European Joint Research Community (JRC) on a project for the harmonization of genetic and genomic technologies through EU. Dr. Grati has published extensively in the area of prenatal diagnosis and cfDNA-based screening, has served on committees that establish national prenatal care policy. She is an invited speaker at national and international scientific meetings and she also serves as a regular reviewer for numerous international journals, including JAMA, Prenatal Diagnosis, Ultrasound in Obstetrics and Gynecology.

Photo of Kathryn J. Gray, MD PhD

Brigham and Women’s Hospital

Dr. Gray is Maternal-Fetal Medicine specialist and Clinical Geneticist at Brigham and Women’s Hospital (BWH), and the Assistant Director of the Combined Maternal Fetal Medicine (MFM)-Medical Genetics Fellowship Program. Her clinical work is focused on reproductive genetics, obstetric ultrasound, and high-risk pregnancies. Her research focuses on understanding adverse pregnancy outcomes (including preeclampsia, postpartum hemorrhage, and stillbirth) using genetics and metabolomics, as well as utilizing developing technologies to diagnose fetal genetic disorders.

Columbia University

Nina Harkavy is an ABGC-certified genetic counselor practicing within the fields of Maternal-Fetal Medicine and Reproductive Endocrinology. She received her undergraduate degree in Psychology from Vassar College and her Master of Science degree from the Johns Hopkins University/National Human Genome Research Institute Genetic Counseling training program in 2015. Nina has worked as a reproductive/prenatal genetic counselor throughout her career, with additional interest in assisted reproductive technology and preconception counseling. She is currently a lecturer, fieldwork supervisor, and Clinical Encounters course facilitator for the Columbia University Genetic Counseling Graduate Program.

Columbia University Irving Medical Center

Dr. Hays is a neonatologist specializing in the care of critically ill infants and newborns. His research interests include the genetic basis of congenital diseases, particularly anomalies of the kidneys, and how genetic diagnostic technology can be used to improve the care of infants, and to help them and their families.

Ginger Hocutt Head Shot

University of North Carolina at Chapel Hill

Ginger Hocutt received her B.S. in Microbiology with a minor in Genetics from North Carolina State University in 2009; her Master of Genetics from North Carolina State University in 2011 and her M.S. in Genetic Counseling from The University of South Carolina in 2013, where she received the S. Robert Young Outstanding Genetic Counselor award. Hocutt obtained board certification and become a board-certified genetic counselor in 2014.

Hocutt is currently a clinical instructor in Maternal-Fetal Medicine. In her role, she provides reproductive genetic counseling services for a variety of indications including preconception, advanced maternal age, positive maternal serum screening results, family and pregnancy history concerns, and ultrasound anomalies. Hocutt currently serves as a co-lead supervisor for genetic counseling trainees. She is also the genetic counselor liaison for the UNC Spina Bifida Fetal Care program. Hocutt’s current areas of interest include preconception counseling and provider/resident genetic education.

Photo of Katherine M. Hyland, PhD​

UC San Francisco

Dr. Katherine M. Hyland is a Professor in the Department of Biochemistry and Biophysics and the Institute for Human Genetics at the UCSF School of Medicine. Her primary roles are in health professions education and faculty development. Dr. Hyland received a BS in Biochemistry from Virginia Tech, an MS in Molecular Cytogenetics from Rutgers University, and a PhD in Human and Molecular Genetics from Johns Hopkins University. She completed postdoctoral training at the University of British Columbia, Centre for Molecular Medicine and Therapeutics, and the UCSF Comprehensive Cancer Center. In her current position, she teaches genetics, molecular biology and biochemistry, emphasizing clinical applications of foundational sciences using innovative educational modalities. She directs the medical genetics and genomics curriculum in the School of Medicine, and Chairs the Medical Genetics Curriculum Committee and the Institute for Human Genetics Education Committee. She has been actively involved in designing and implementing the UCSF Bridges medical curriculum. Dr. Hyland is active member in the Haile T. Debas Academy of Medical Educators and leads Faculty Development workshops both at UCSF and as well as nationally and internationally. She served as the inaugural Chair of the Medical Genetics Course Directors group in the Association of Professors of Human and Medical Genetics (APHMG), led an effort to develop national competencies in medical genetics, and currently serves as Secretary/Treasurer in the APHMG Leadership Council. She is also an active a member of the International Association of Medical Science Educators (IAMSE), the American Society of Human Genetics (ASHG), the Association of Biochemistry Educators (ABE), the Western Group on Educational Affairs (WGEA), and the Inter-Society Coordinating Committee for Practitioner Education in Genomics (ISCC). Her current educational interests include encouraging students to engage in curiosity and the process of discovery, applying the concept of cognitive integration, and incorporating an integrated approach to genomic medicine in the training of future and current physicians.

Jennifer james

University of California, San Francisco

Jennifer James, PhD, MSW, MSSP is an Assistant Professor in the Institute for Health and Aging, the Department of Social and Behavioral Sciences, and the Bioethics program at the University of California, San Francisco. Dr. James is a qualitative researcher and Black Feminist scholar whose research lies at the intersection of race, gender and health. Her work focuses on experiences of cancer and chronic illness. Her work is currently in two main areas. First, how patients understand genomic risk for breast cancer and make breast cancer screening decisions. Second, she is studying the intersection of incarceration and health. Dr. James holds a PhD in Sociology from UCSF, a Master’s of Social Work and a Master’s of Science in Social Policy from the University of Pennsylvania and a Bachelor of Arts in Political Science from Yale University.

Photo of Angie Jelin, MD

Johns Hopkins University

Dr. Angie Jelin is the assistant director of prenatal genetics at the Prenatal Diagnostic Center in the Division of Maternal-Fetal Medicine and an assistant professor in the Johns Hopkins Medicine Department of Gynecology and Obstetrics. Her areas of clinical expertise include prenatal genetic counseling, fetal imaging, chorionic villus sampling and amniocentesis, with a focus on fetal complications in pregnancy. Dr. Jelin’s research involves fetal imaging and genetic diagnoses, including whole exome and whole genome sequencing.

Rady Children’s Institute for Genomic Medicine

Stephen F. Kingsmore, MD, DSc is President and CEO of Rady Children’s Institute for Genomic Medicine where he leads a multi-disciplinary team of researchers and clinicians. They specialize in the fastest use of Whole Genome Sequencing (WGS) to identify rare genetic disorders and help critically-ill newborns and children in intensive care receive Rapid Precision Medicine (RPM®).

Dr. Kingsmore’s team has published studies demonstrating that using rapid WGS as a first-line test in the NICU can improve the care experience for patients, families and clinicians while also reducing the cost of care. In 2018, the State of California awarded Rady Children’s $2 million to implement Project Baby Bear, the first publically-funded program offering whole genome sequencing to critically-ill infants.

Photo of Brynn Levy, MSc (Med), PhD

Columbia University

Brynn Levy, M.Sc. (Med), Ph.D. is a Professor of Pathology and Cell Biology at the Columbia University Medical Center. He is also the Director of the Clinical Cytogenetics Laboratory of the New York Presbyterian Hospital and a Co-Director of the Division of Personalized Genomic in the Department of Pathology & Cell Biology. Dr. Levy is regarded internationally as an expert in the clinical utility of genomic technologies in reproductive medicine. He has authored multiple book chapters and publications on molecular genetics, clinical cytogenetics and molecular cytogenetics and lectured internationally about his experience utilizing CGH and high resolution SNP microarrays both as a clinical and research tool. His research areas of interest include early prenatal screening using fetal cells and cell-free fetal DNA from maternal circulation, PGD and the etiology of recurrent miscarriage. Dr. Levy was a Co-Investigator of the Multicenter NICHD study that investigated the use of microarrays for prenatal diagnosis and was the Columbia University site Principal Investigator of a NIH-funded study from the Stillbirth Collaborative Research Network (SCRN) that assessed CNVs in stillbirths. Dr. Levy is the past President of the Cancer Genomics Consortium (GCC) and was the PI at Columbia University Medical Center for the GCG Multi-center Quality Control trial that performed cross-platform validation of cytogenomic arrays for cancer diagnostics. Dr. Levy currently serves as the Genetics and Genomics Section Editor for the journal Prenatal Diagnosis.

UC San Francisco

Billie Lianoglou is a genetic counselor who specializes in prenatal care. She works closely with perinatologists to educate families on potential genetic risks for fetal abnormalities or complications. Billie splits her time between working with families at the UCSF Fetal Treatment Center and supporting the research of genetic specialists Dr. Mary Norton and Dr. Teresa Sparks at the UCSF Center for Maternal-Fetal Precision Medicine. This research explores the value of prenatal whole exome sequencing in the setting of fetal anomalies and complications including non-immune hydrops fetalis.

UC San Francisco

Carly Kenyon, MS, CGC is a genetic counselor at the UCSF Prenatal Diagnostic Center and works with preconception and prenatal patients. She has been in this field for about seven years and enjoys helping patients navigate the complexities of genetic testing, particularly given the increasing accessibility of new technologies (expanded carrier screening, cell free DNA screening, whole exome sequencing, etc).

Photo of Tippi MacKenzie, MD

UC San Francisco

Tippi MacKenzie is a pediatric and fetal surgeon who is focused on developing better ways to diagnose and treat genetic diseases before birth. She runs a translational research lab examining fetal immunology and maternal-fetal tolerance, with the ultimate goal of inventing new fetal therapies for patients with genetic diseases or pregnancy complications. She is the Principal Investigator on the world’s first Phase 1 clinical trial to perform in utero hematopoietic stem cell transplantation to treat fetuses with alpha thalassemia. Her research has been supported by the National Institutes of Health, the March of Dimes, the California Institute for Regeneration Medicine, and the Burroughs-Wellcome Fund. Tippi has been awarded the Jacobson Award by the American College of Surgeons for her innovative work.

Tippi trained in classical piano at Juilliard before obtaining her undergraduate degree from Harvard College and her medical degree from Stanford University. She completed her surgical residency at Brigham and Women’s Hospital in Boston and obtained additional fellowships in Fetal Surgery and Pediatric Surgery at the Children’s Hospital of Philadelphia. She joined the faculty at the University of California, San Francisco in 2007 and is now a Professor of Surgery. In addition to her clinical practice, she is also a member of the Eli and Edythe Broad Institute for Regeneration Medicine and the Biomedical Sciences Program. She recently co-founded the Center for Maternal-Fetal Precision Medicine, with the aim of accelerating the processes that link basic research to clinical trials to improve maternal, fetal, and neonatal health. This Center is testing methods to improve prenatal diagnosis of birth defects and developing new cellular and molecular therapies for definitive fetal treatment.

University of North Carolina

Tracy A. Manuck, MD, MSCI is a tenured Associate Professor in the Department of Obstetrics and Gynecology at the University of North Carolina – Chapel Hill in the Division of Maternal-Fetal Medicine, where she serves as Medical Director of the Prematurity Prevention Program. Dr. Manuck is also the Perinatal Section Head of the Institute for Environmental Health Solutions.

Dr. Manuck completed her Maternal-Fetal Medicine Fellowship at the University of Utah. She is a 2-time award winner of the National March of Dimes award for the Best Research in Prematurity and is nationally renowned for her work. Dr. Manuck has served on multiple Society for Maternal Fetal Medicine committees and special task forces. Her clinical interests and expertise include preterm labor, cervical insufficiency, preterm premature rupture of membranes, and preeclampsia. She specializes in providing care for women at highest risk for preterm birth, including those with multiple previous preterm deliveries and preterm deliveries prior to fetal viability. Dr. Manuck also has expertise and passion for investigations of health disparities as they relate to preterm birth and perinatal outcomes, including the impact of environmental exposures on health inequities in obstetrics. She is a passionate mentor and actively involved with the research education and mentorship of medical students, residents, fellows, and junior faculty.

Photo of Anne Mardy, MD

UC San Francisco

Dr. Mardy is a 4th year fellow in the combined Maternal Fetal Medicine and Medical Genetics fellowship at UCSF. She attended medical school at Columbia University College of Physicians and Surgeons, where she learned about genetics in medicine from Dr. Wendy Chung for the first time. She completed residency in Obstetrics and Gynecology at Columbia University Medical Center, and was inspired by Dr. Ronald Wapner to pursue a joint fellowship in MFM and Genetics. She is passionate about teaching students, residents and fellows about topics in prenatal genetics and has a research interest in diagnostic utilities of prenatal diagnosis.

Deepcell Inc.

Dr. Musci is board certified in maternal-fetal medicine and clinical genetics and spent 22 years on faculty at the University of California, San Francisco (UCSF). He has served as Chief Medical Officer at Ariosa Diagnostics / Roche Diagnostics where he was instrumental in leading the introduction of non-invasive prenatal testing using cell-free DNA technology. Prior to that role he was Director of Clinical Affairs at Novartis Diagnostics (Predictive Health Franchise).

Dr. Musci has served as the Chair of the Genetics Committee for the American Congress of Obstetricians and Gynecologists (ACOG) and a member of the Professional Practice Guidelines Committee for the American College of Medical Genetics. Dr. Musci earned his medical degree at the Georgetown University School of Medicine and completed his Obstetrics and Gynecology residency, Maternal-Fetal Medicine fellowship, Medical Genetics Fellowship, and post-doctoral fellowship in Molecular Developmental Biology all at UCSF.

Stanford University

Dr. Alice B. Popejoy is a computational biologist with a PhD in Public Health Genetics and a Certificate in Statistical Genetics from the University of Washington. Dr. Popejoy’s research is situated at the intersections of computational genomics, human population genetics, clinical genetics, and bioethics in the Department of Biomedical Data Science and the Center for Biomedical Ethics at the Stanford University School of Medicine. She is also involved in several NIH-funded consortia, including the Clinical Genome Resource (ClinGen) and Clinical Sequencing Evidence-generating Research (CSER), and is Co-Chair of the Ancestry & Diversity Working Group and Chair of the Data Access, Protection, and Confidentiality Working Group.

Photo of Joe Qi, PhD

UC San Francisco

Dr. Joe Qi is an American Board of Medical Genetics and Genomics (ABMGG) certified Clinical Cytogeneticist, and Associate Clinical Professor in the Department of Laboratory Medicine at UCSF. He is Assistant Director of UCSF Clinical Cytogenetics Lab, responsible for clinical cytogenetic case sign-out and new clinical test development in the lab. His research interests include genomic and epigenetic study of chromosome changes in cancer and constitutional genetic disorders and in stem cells.

Photo of Britton D Rink, MD

Mount Carmel Health

Dr. Rink is Director of Medical Genetics in the Mount Carmel Health System, Columbus, Ohio. She is dual board certified in Maternal Fetal Medicine and Genetics and maintains a practice in both subspecialties. Dr. Rink is the Chair of the ACOG Committee on Genetics after serving on the committee for several years and most recently as the Vice Chair. She has particular interest in prenatal diagnosis, advanced fetal imaging, fetal therapy and recurrent pregnancy loss. Dr. Rink has authored several book chapters and publications on genetic testing and screening in pregnancy. She resides in Columbus, Ohio with her husband and four children.

Photo of Stephan Sanders, BMBS, PhD

UC San Francisco

Dr. Sanders trained as a pediatric physician in the UK before pursuing a research career in genomics and bioinformatics. His work has helped characterize the role of de novo mutation in the etiology of Autism Spectrum Disorder (ASD) and identified multiple ASD risk loci including duplications of the 7q11.23 William’s Syndrome region (Sanders et al. Neuron 2011) and mutations in the sodium channel gene SCN2A (Sanders et al. Nature 2012). His work on the integration of CNV and exome data across multiple ASD cohorts recently identified 71 ASD risk loci (Sanders et al. Neuron 2015). In addition, he worked as part of a group that integrated spatiotemporal gene expression data from the human brain with these ASD-associated genes (Willsey et al. Cell 2013). This approach has implicated deep layer glutamatergic neurons in the frontal cortex during mid-fetal development in the causation of ASD. His lab has three main research questions: 1) Understanding the genetic basis of childhood neurodevelopmental disorders, in particular ASD; 2) Understanding how these genetic factors lead to the disorders; and 3) Understanding the mechanism of that leads to the male bias in ASD diagnosis, in particular through identifying the biological basis of the female protective effect.

Photo of Allyson Scott, MS, CGC

UC San Francisco

Allyson Scott, MS, CGC is a genetic counselor at the UCSF Prenatal Diagnostic Center and is the Associate Director for the Graduate Program in Genetic Counseling at UCSF. During her 15 year career she has cared for a diverse patient population at both UCSF and the Zuckerberg San Francisco General Hospital. Allyson counsels all types of prenatal and preconception patients but specializes in hemoglobinopathies. She is a passionate educator, and regularly speaks to medical students, midwifery students, OB Gyn/Residents, MFM fellows and Genetics fellows.

Florida International University

Professor Joe Leigh Simpson, MD, FACOG, FACMG, FRCOG, received his undergraduate and medical education at Duke University and his residency/fellowship at The New York Hospital/Cornell University Medical College. He is certified in Medical Genetics as well as in Obstetrics and Gynecology. His academic positions have included Northwestern University; Chair OBGYN at University of Tennessee, Memphis; Chair OBGYN at Baylor College of Medicine; and Founding Executive Associate Dean for Academic Affairs at Herbert Wertheim College of Medicine (HWCOM), Florida International University. From 2012-2018 he served as Senior Vice President for Research and Global programs at The March of Dimes, returning to HWCOM in 2018.

Dr. Simpson has made many discoveries and contributions in reproductive medicine, and in prenatal genetic diagnosis. He has written over 800 articles and chapters. He has co-edited seven editions of Obstetrics: Normal and Problem Pregnancies, and likewise three editions for Genetics in Obstetrics and Gynecology.  Most recently he co-authored the 3rd edition of Practical Preimplantation Genetic Diagnosis. His research funding has included the National Institute of Child Health and Human Development, United States Agency for International Development, and the Department of Defense.

He has been President of the American Society for Reproductive Medicine, International Society of Prenatal Diagnosis, Society for Reproductive Investigation, American College of Medical Genetics and Genomics, International Federation of Fertility Societies and Preimplantation Genetic Diagnosis International Society. He is a member of the National Academies of Sciences, Engineering, and Medicine.

UC San Francisco

preconception patients, she has a particular interest in working with pregnant women who have complex IVF histories or who personally have a diagnosis of a genetic condition. She has broad research interests ranging from investigating the benefits of mindfulness training for genetic counselors to exploring the utility of expanded carrier screening. Julia is passionate about education and serves as a mentor and teacher for genetic counseling, midwifery, and medical students.

Photo of Teresa Sparks, MD, MAS

UC San Francisco

Dr. Sparks is a Maternal-Fetal Medicine specialist as well as a Clinical Geneticist. She attended medical school at the University of California, San Francisco (UCSF); completed residency in Obstetrics & Gynecology at the Brigham & Women’s Hospital / Massachusetts General Hospital combined program; and completed a combined fellowship in Maternal-Fetal Medicine and Clinical Genetics at UCSF. She additionally earned a Masters of Advanced Study in Clinical Research from UCSF. Dr. Sparks cares for women who are either pregnant or considering a pregnancy, who are at higher risk for a variety of maternal and fetal reasons. She sees patients primarily in the Fetal Treatment Center and the Prenatal Diagnosis Center at UCSF. Dr. Sparks is also the PI of the multicenter HyDROPS study (Hydrops: Diagnosing and Redefining Outcomes with Precision Study), which aims to uncover the genetic etiologies leading to non-immune hydrops fetalis through exome sequencing, detailed phenotyping, and more targeted in utero care.

Columbia University

Erica completed her genetic counseling training at the Icahn School of Medicine at Mount Sinai in 2006. She is an Assistant Professor of Genetic Counseling at Columbia University Department of OBGYN and is the course director for Reproductive Genetics at Columbia University Genetic Counseling Graduate Program. She counsels patients for a wide range of prenatal and preconception indications in both English and Spanish, and has been involved in numerous clinical research studies of emerging reproductive genetic technologies. Erica is passionate about providing high-quality care to women and families in the setting of fetal anomalies and genetic diagnoses. She is also involved in the training of MFM and Clinical Genetics fellows as well as medical students.

Blair Stevens is a board-certified genetic counselor who has provided prenatal genetic counseling services in the greater Houston area for the last 14 years. Ms. Stevens provides genetic counseling services at UTPhysicians’ Maternal Fetal Medicine clinics and The Fetal Center at Children’s Memorial Hermann Hospital where she helps families adjust to unexpected fetal diagnoses. In addition to clinical care, Ms. Stevens provides training and research mentorship to genetic counseling students at the University of Texas Genetic Counseling Program and MFM fellows at UT. She is also actively involved in the National Society of Genetic Counselors and has served in leadership positions on the Board of Directors, Public Policy Committee and the Prenatal Special Interest Group. Ms. Stevens is passionate about understanding clinical utility of reproductive genetic testing and has several publications on cfDNA screening and expanded carrier screening.

Stoll

Genetic Support Foundation

Katie Stoll is a genetic counselor and executive director of the nonprofit organization, Genetic Support Foundation (GSF). Katie received her Master’s degree in Genetic Counseling from Brandeis University in 2003. Since that time she has worked in a variety of clinical areas, including perinatal genetics, hereditary cancer, pediatrics and general genetics. In addition to clinical work at GSF, Katie is focused on developing resources and expanding access to up-to-date, patient-centered information regarding genetic testing.

UCSF Benioff Children’s Hospital

Mark C. Walters, MD, is the Jordan Family Director of the Blood and Marrow Transplantation Program at UCSF Benioff Children’s Hospital, Oakland and Professor of Pediatrics at UCSF School of Medicine. He is Program Director of the California Institute of Regenerative Medicine alpha stem cell clinic at UCSF. Dr. Walters received his A.B. with honors in Genetics from the University of California, Berkeley and his MD from the University of California, San Diego. He completed pediatric residency training at the University of Washington and hematology/oncology fellowship training at the University of Washington and the Fred Hutchinson Cancer Research Center in Seattle. He was a junior faculty member in Seattle before matriculating to Oakland in 1999. He has been active in cooperative clinical transplantation trials and has led several NIH-supported investigations of hematopoietic cell transplantation for sickle cell anemia and thalassemia. He has authored or co-authored many publications with a focus on hematopoietic cell transplantation for hemoglobin disorders, and he has a research interest in extending transplantation to young adults with hemoglobin disorders and other novel cellular therapies for hemoglobin disorders. Currently, research interests are focused on genomic editing and gene addition therapies as a strategy to extend curative therapy in all patients who inherit a clinically significant hemoglobinopathy.

Photo of Arun Wiita, MD, PhD

UC San Francisco

Arun Wiita, MD, PhD, is a Clinical Pathologist and physician-scientist in the Dept. of Laboratory Medicine at UCSF. In his clinical duties, Dr. Wiita interprets DNA microarrays for diagnosis of copy number variants causative of genetic disease in the prenatal and postnatal settings. He has a particular interest in the integration of emerging knowledge regarding genome architecture and epigenetics in clinical microarray interpretation. In his research lab, supported by a Doris Duke Charitable Foundation Clinical Scientist Development Award, NIH Director’s New Innovator Award, and Damon Runyon Cancer Research Foundation Breakthrough Award, among others, Dr. Wiita focuses on using chemical biology, mass spectrometry, and genome-engineering tools to make diagnostic and therapeutic advances in blood cancers and CNV-related genetic disease. Dr. Wiita graduated from Princeton University with an AB in Chemistry, obtained his MD and PhD at Columbia University with graduate training in single molecule biophysics, and completed residency training in Clinical Pathology at UCSF.

Photo of Louise Wilkins-Haug, MD, PhD

Harvard Medical School

Dr. Wilkins-Haug is the Division Director for Maternal Fetal Medicine and Reproductive Genetics at Brigham and Women’s Hospital, Harvard Medical School, Boston, MA. She has been at BWH over 25 years and has developed and directed various programs including for trainees and patient care. She is actively involved as a prenatal educator at Harvard Medical School postgraduate courses, Genetics Boards Review Courses and with the American College of Obstetrics and Gynecology.

Columbia University Medical Center

Zev Williams, MD, PhD, is the Wendy D. Havens Associate Professor of Women’s Health, and Chief of the Division of Reproductive Endocrinology and Infertility at Columbia University Medical Center. His clinical and research focus is in developing and applying novel technologies to diagnose and prevent recurrent pregnancy loss, including leading NIH-funded programs for non-invasive assessment of placental structure and function using single-cell and cell-free RNA analysis and nanopore-based DNA sequencing.

Julianne Wojciak is a licensed genetic counselor specializing in cardiovascular genetics at UCSF. Since 2010, she has managed the UCSF Cardiovascular Genetics Program, a clinical service providing comprehensive cardiac and genetic services for patients and families with inherited heart disease such as cardiomyopathies, arrhythmias, aortopathies, dyslipidemias, congenital heart defects as well as unexplained sudden cardiac death (SCD). Julianne Wojciak provides genetic counseling services for the Hypertophic Cardiomyopathy Center of Excellence (COE). She also is involved in numerous cardiovascular genetic research studies at UCSF focusing on discovering novel genetic susceptibility factors and directly translating research findings to patients and family members to benefit from potentially life-saving medical care.

Photo of Ignatia B. Van den Veyver, MD

Baylor College of Medicine

Ignatia B. Van den Veyver, M.D. is a Professor in the Department of Obstetrics and Gynecology and the Department of Molecular and Human Genetics in Houston, Texas. She is Director of Clinical Prenatal Genetics at Baylor College of Medicine and Texas Children’s Hospital and a faculty member of the Texas Children’s Hospital Fetal Center. Her clinical translational research focuses on exploring novel genetic and genomic methods of prenatal genetic testing and the complexities of their integration into prenatal care with a specific interest in application of prenatal exomes and genomes, counseling for various new technologies. She is also engaged in collaborative research on development and validation of cell-based non-invasive prenatal diagnosis. She oversees a research laboratory located in the Jan and Dan Duncan Neurological Research Institute where she performs translational and basic research on the molecular genetics and epigenetics of human developmental disorders and reproductive genetics and epigenetics. She has published extensively in these various fields and her research is funded by the NIH and private foundations. She is immediate past president of the International Society for Prenatal Diagnosis.

Tel Aviv Sourasky Medical Center

Dr Yaron is a graduate of the Tel Aviv Sackler Faculty of Medicine at the Tel Aviv University in Israel. He trained in Obstetrics and Gynecology at the Tel Aviv Medical Center and was certified in 1995. He did a clinical fellowship in Reproductive Genetics at Wayne State University in Detroit, Michigan, and received certification from the American Board of Medical Genetics in 1998. He is also board certified in Clinical Genetics by the Israeli Board. For over 20 years he has served as the Director of the Prenatal Genetic Diagnosis Unit at the Tel Aviv Medical Center. Dr Yaron is currently an Associate Professor of Obstetrics and Gynecology at the Tel Aviv Sackler Faculty of Medicine. He served as the secretary of the Israeli Society of Medical Genetics for 8 years. He is a past board member of the International Society for Prenatal Diagnosis (ISPD) and is currently an editorial board member of Prenatal Diagnosis. His areas of interest and research include prenatal diagnosis, carrier screening, preimplantation genetic testing, chromosomal microarrays, biochemical & non-invasive prenatal screening. He now heads the Bioinformatics Team at the Genome Center at the Tel Aviv Medical Center, focusing on the use of Next Generation Sequencing in prenatal diagnosis. Dr Yaron has authored more than 180 publications in peer-reviewed journals and has written numerous chapters in textbooks. He is currently serves as a member of Illumina’s Clinical Expert Panel and is a Medical Advisor to Genoox Bioinformatics.

Photo of Jessica Van Ziffle, PhD

UC San Francisco

Dr. Jessica Van Ziffle is a molecular geneticist, and Assistant Professor in the Department of Pathology at UCSF. She is an active member of the UCSF Institute for Human Genetics. Her clinical and research interests include the development and implementation of clinical molecular genetic testing at the UCSF Clinical Cancer Genomics Lab (CCGL), and Genomic Medicine Lab (GML). Molecular testing techniques include single gene testing, as well as highly multiplexed deep sequencing technologies. The aim of this testing is to identify therapeutic targets, clarify a patient’s diagnosis, or establish a patient’s molecular diagnosis. Of particular interest are the genomics of hematopoietic malignancies, the heritable causes of these malignancies, and the clinical utility of exome sequencing for inherited, or constitutional, diseases.