Meet the Team

The Coordinating Center and Ethics Research Team

Melissa Wasserstein, M.D.

Dr. Melissa Wasserstein is the Chief of the Division of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore and Professor of Pediatrics and Genetics at the Albert Einstein College of Medicine. After graduating from Cornell University, Dr. Wasserstein received her medical degree from NYU School of Medicine, followed by a pediatrics residency and medical genetics fellowship at Mount Sinai. A board-certified biochemical geneticist and pediatrician, Dr. Wasserstein diagnoses and manages patients with rare inborn errors of metabolism. Her research activities focus on expanding and enhancing newborn screening to optimize the outcome of infants with rare disorders, implementing genomic diagnostics in diverse populations, and studying the natural history and treatment of acid sphingomyelinase deficiency. She is the Principal Investigator of ScreenPlus.

COI: Served as a consultant and received research and travel funding from Sanofi Genzyme. Received research funding from the National Niemann Pick Disease Foundation and our ScreenPlus sponsors.

Nicole Kelly, M.P.H.

Nicole is the Program Manager and Research Administrator for the Division of Pediatric Genetic Medicine at the Children’s Hospital at Montefiore, the University Hospital for Albert Einstein College of Medicine. She works on development, implementation and management of clinical trials, drug trials and other clinical research studies in pediatric and adult genetics. She is the Project and Data Manager for two large NIH-funded studies, ScreenPlus and NYCKidSeq. She has a MPH in Environmental and Occupational Medicine from the Icahn School of Medicine at Mount Sinai and a BS in Human Biology from the University at Albany, SUNY.

Megan Clarke, M.S.

Megan Clarke studied psychology at Marist College and obtained her Master of Science in Child and Adolescent Mental Health Sciences at King’s College London. She works as a study coordinator at Albert Einstein College of Medicine on two research studies: the Brain Gene Registry project and ScreenPlus, where her role lies within implementation of the project and as an interviewer with parents whose newborns received abnormal results in NBS. She has previous experience as a mediator at Hudson River Housing, a runaway house for youths, and as a social worker at Dutchess County Family Services, both roles that fueled her wish to work in the patient facing side of research.

Katrina Paleologos, M.P.H

Katrina Paleologos completed her Master of Public Health in Epidemiology at New York University and Bachelor of Science in Biochemistry at the University of Minnesota. She works as the Research Coordinator/Data Analyst of ScreenPlus at Albert Einstein College of Medicine. She works on data analysis of ScreenPlus as well as the implementation of ethical and social implications (ELSI) involved with NBS. Paleologos previously worked as a research assistant at NYU’s Program on Population Impact, Recovery, and Resilience (PiR2) exploring COVID-19 vaccine hesitancy and as a Quality Assurance Lead at BroadStreet Institute overseeing county-level datasets on COVID-19 morbidity and mortality. She is a member of the American Public Health Association (APHA).

Maria Kefalas, Ph.D.

Maria Kefalas studied economics at Wellesley College and earned her M.A. and Ph.D. in sociology from the University of Chicago. She worked at the Brookings Institution, held a post-doctoral fellowship at the University of Pennsylvania, and taught at Barnard College (Columbia University) before joining the faculty of Saint Joseph’s University in Philadelphia. Kefalas is the author of numerous books and articles, and has received grants from the William T. Grant Foundation, the MacArthur Foundation, and the Department of Justice.

Aaron Goldenberg, Ph.D., M.S.

Dr. Goldenberg is an Associate Professor and Vice-Chair in the Department of Bioethics at Case Western Reserve University. He is also Co-Director for the CWRU Center for Genetic Research Ethics and Law (CGREAL). Dr. Goldenberg has a background in bioethics, health behavior/health education, public health ethics, and public health genetics. He has expertise in qualitative and quantitative research design and analysis, and has focused his work on the ethical, legal, and social issues associated with the integration of new genomic technologies into research, clinical and public health settings. Dr. Goldenberg's research program has been grounded by a number of major project areas, including: 1) the ethical and social implications of storing and using of biological specimens and data for future research; 2) implications of genetics and gene-environment interactions for racial/ethnic minorities and other communities experiencing health disparities; and 3) ethical implications of expanding newborn screening programs. He is currently the Principal Investigator on a project funded by the NIH National Human Genome Research Institute to examine the unique ethical implications of networking large biorepositories for precision medicine. He is currently Co-Chair the NBSTRN Bioethics and Legal Workgroup, and with this group, led a recent effort to develop a set ELSI questions that can be integrated into NBS Pilots to help assess the potential benefits and harms of adding new conditions to NBS panels.

Special acknowledgments to members of the ScreenPlus Research Finance and Contracts team: Suzanne Locke, Wei Ouyang, Ph.D., and Nehama Teitelman, M.P.H..

New York State Department of Health Team

Joseph Orsini, Ph.D.

Dr. Joseph Orsini is the Deputy Director of the New York Newborn Screening Program and Director of the Lysosomal Storage Disease (LSD) and Adrenoleukodystrophy (ALD) screening laboratory. He received his Ph.D. in Analytical Chemistry in 1989 from the University of Vermont. Dr. Orsini has 36 publications related to newborn screening. His laboratory was the first to screen newborns for Krabbe disease and ALD and his lab has performed pilot screening for multiple other lysosomal storage disorders. He leads national efforts in QA/QC, and he co-led the development of the Clinical Laboratory and Standard’s Institute guideline to screening for Pompe disease.

Ryan Wilson

Hannah McNeight

Hannah McNeight earned her undergraduate degree in chemistry at SUNY University at Albany. She worked as an analytical chemist at a pharmaceutical company for two years before joining the New York State Newborn Screening Lab and the New York ScreenPlus team.

Michele Caggana, Sc.D.

Michele Caggana, Sc.D., FACMG received her doctorate from Harvard School of Public Health, completed post-doctoral work at Mt. Sinai School of Medicine and is boarded in clinical molecular genetics. At the Wadsworth Center, she is Deputy Director, Division of Genetics; Chief, Laboratory of Human Genetics, and Director, Newborn Screening Program. At APHL she chairs the Newborn Screening Committee, is a member of the Newborn Screening Technical assistance and Evaluation Program’s Steering Committee and Molecular Subcommittee. She is a member of the National Advisory Child Health and Human Development Council. For NBSTRN she Co-Chairs the Pilot Implementation Workgroup and is a member of the Steering Committee.

Colleen Stevens, Ph.D.

Dr. Colleen Stevens is the director of the New York Newborn Screening Molecular laboratory. She received a Ph.D. in Biomedical Sciences/Molecular Genetics from the State University of New York at Albany School of Public Health in 2004. She has been involved in clinical laboratory testing and regulatory oversight for 30 years. Dr. Stevens joined the Newborn Screening program in 2010 and has overseen the development and validation of new molecular tests including Sanger sequencing for Pompe disease and MPS I, SMN1 and SMN2 copy number analysis for SMA, and next generation sequencing for cystic fibrosis and SCID.

Assay Development Team

Michael Gelb, Ph.D.

Michael H. Gelb has been a Professor in the Depts. of Chemistry and Biochemistry at the Univ. of Washington since 1985. He works in the area of chemical biology and bioanalytical chemistry. Major breakthroughs in the group include the development of methods to properly analyze the action of enzymes on membrane surfaces, the discovery of protein prenylation (farnesylation and geranylgeranylation) in mammalian cells (together with John A. Glomset), the development of Isotope-Coded Affinity Tags (ICAT reagents) for proteomic applications (together with Ruedi Aebersold), and the development of worldwide newborn screening for lysosomal storage diseases.

COI: Collaborator with Takeda, PassageBio, Neurogene, BioMarin, Ultragenyx, Forge Biologics.

Dan Ory, M.D.

Dr. Daniel Ory, MD, trained at Harvard and MIT before joining the faculty at Washington University in 1995. Over the next two decades, his lab studied Niemann-Pick C (NPC) disease, developing new treatments and discovering disease biomarkers. Clinical assays based on these biomarkers have been implemented worldwide and are the basis of the newborn screening assay incorporated into ScreenPlus. Dr. Ory has authored >150 publications and has been the recipient of numerous awards. In 2018 Dr. Ory left Washington University to join Casma Therapeutics, a biotech company focused on development of drugs that harnessing autophagy to treat disease.

Mayo Clinic Team

Dieter Matern, M.D., Ph.D.

Dietrich Matern, M.D., Ph.D., is a Professor of Laboratory Medicine, Medical Genetics and Pediatrics, and co-director of the Biochemical Genetics Laboratory at the Mayo Clinic in Rochester, MN. His research activities involve the development and improvement of laboratory assays for screening, diagnosis and follow-up of patients with inborn errors of metabolism. He co-/authored more than 180 peer-reviewed papers and textbook chapters. Dr. Matern currently serves on ACMG’s Board of Directors, is a member of the MN State Advisory Committee on Heritable and Congenital Disorders, the CAP/ACMG Biochemical & Molecular Genetics Resource Committee, and several other working groups.

COI: Collaborator with Mayo Clinic Laboratories.

Pilot Hospital Site Leads and Co-Investigators

Paul Levy, M.D.

Pilot Hospital: Jack D. Weiler Hospital, Montefiore Medical Center

Paul Levy, MD, is a clinical geneticist at the Children’s Hospital at Montefiore Medical Center. He received his medical education in 1988 from Tulane University School of Medicine and completed his residency in Pediatrics at Montefiore Medical Center. In 1992, he went on to complete a fellowship in Genetics at Tulane Medical Center Hospital. He is an associate professor in the Department of Pediatrics and the Department of Pathology at the Albert Einstein College of Medicine. He is a member of the American Board of Pediatrics, and American Board of Medical Genetics and Genomics in Clinical Biochemical Genetics.

Suhas Nafday, M.D.

Pilot Hospital: Jack D. Weiler Hospital, Montefiore Medical Center

Dr. Suhas Nafday is a Professor of Pediatrics at the Albert Einstein College of Medicine, NY. He also handles clinical, administrative responsibilities as the Director of Newborn services at Children's Hospital at Montefiore (CHAM)-Weiler and chairs the neonatal quality improvement and patient safety program at CHAM-Weiler. He continues to maintain an active clinical research focus, having authored, or co-authored, many peer-reviewed publications and authored multiple book chapters in prominent ‘Pediatrics’ and ‘Neonatology’ textbooks.

Jaya Ganesh, M.D.

Pilot Hospital: Mount Sinai Hospital

Dr. Jaya Ganesh is a Board Certified in Pediatrics, Clinical Genetics and Biochemical Genetics. She is a member of the Society of Inherited Metabolic Diseases. She joined the faculty of the Department Genetics and Genomic Sciences at the Icahn School of Medicine at Mount Sinai as Associate Professor in 2018 and is the Co -Director of the Lysosomal Program at Mount Sinai. Her clinical efforts have been focused on the diagnosis and management of inborn errors of metabolism including lysosomal diseases. Dr. Ganesh is involved in clinical research in developing new therapies for genetic diseases and serves as the site Primary Investigator for various clinical trials.

COI: Consultant for Sanofi Genzyme, Amicus, and Sangamo Therapeutics. Funded by Sanofi Genzyme, Sangamo Therapeutics, and Takeda, Biomarin (pending approval), and Orphan Technologies (pending approval).

Gabriel Kupchik, M.D.

Pilot Hospital: Maimonides Medical Center

Dr. Gabriel S. Kupchik is a Professor of Clinical Pediatrics at SUNY Downstate and Director of the Division of Medical Genetics at Maimonides Infants Children’s Hospital in Brooklyn, NY. He joined Maimonides in 1994. He completed his medical education at the Universidad de Buenos Aires in Argentina. He completed a residency in Pediatrics at North Shore University Hospital and fellowship in Clinical and Molecular Genetics at Mount Sinai School of Medicine. Dr. Kupchik is board-certified in Pediatrics, Clinical Genetics and Molecular Genetics. He has published over 65 peer reviewed articles and abstracts and has received numerous grants for his work. His affiliations include the American College of Medical Genetics, the American Board of Medical Genetics and the American Medical Association.

Rishi Lumba, M.D.

Pilot Hospital: NYU Langone (Brooklyn)

Dr. Rishi Lumba is an Assistant Professor of Pediatrics and an Attending Physician in the Division of Neonatology at New York University Grossman School of Medicine. He completed his Pediatric residency and a Neonatal-Perinatal fellowship at New York University School of Medicine. He is active in clinical research, involving SARS-CoV-2 in newborns and children, therapeutic hypothermia and pulmonary hypertension.

Sean Bailey, M.D.

Pilot Hospital: NYU Langone (Manhattan)

Annemarie Stroustrup, M.D., M.P.H.

Pilot Hospital: Long Island Jewish Medical Center and North Shore Hospital

Dr. Annemarie Stroustrup is a Vice President and Director of Neonatal Services as well as the System Chief of Neonatology for Northwell Health, based at Cohen Children’s Medical Center. She is also Professor in the Departments of Pediatrics and Occupational Medicine, Epidemiology and Prevention at the Zucker School of Medicine at Hofstra/Northwell. Dr. Stroustrup received her undergraduate degree in Molecular Biology, minoring in both Biological Engineering and French Language and Culture, from Princeton University. She then worked in drug development for Sunesis Pharmaceuticals before pursuing medical training at Harvard Medical School followed by pediatric residency and Neonatal-Perinatal Medicine fellowship at the Mount Sinai Hospital. Dr. Stroustrup also earned her Master in Public Health degree at the Icahn School of Medicine at Mount Sinai. In addition to serving as an attending neonatologist, Dr. Stroustrup leads a research program exploring the impact of hospital-based environmental exposures on multi-system adverse outcomes related to prematurity. She has also been involved in a number of studies investigating genomic diagnostics in neonatal populations, including the NCATS-funded GEMINI collaborative and now the ScreenPlus program.

Pilot Hospital Research Coordinators

Isabella Buitron

Isabella Buitron is a graduate from New York University where she studied journalism on the pre-health track. She is the clinical research coordinator at Mount Sinai Hospital for ScreenPlus. Her role includes obtaining consent from mothers to enroll their newborns in the study. She previously volunteered in a lab at the University of Miami that focused on oral cancer research. Buitron has co-authored articles and wrote an undergraduate thesis on personalized medicine.

Anneke Fleming

Anneke Fleming is the Clinical Research Coordinator at Mount Sinai West. Anneke works with patients in both English and Spanish and hopes to improve access to NBS information for Spanish-speaking patients. She recently graduated with a BS from the University of Puget Sound, where she studied Molecular & Cellular Biology and conducted research in a plant genetics laboratory under Professor Bryan Thines. During college, she also studied health equity and international health systems while abroad in Mexico, Vietnam, and South Africa. Before moving to New York, she worked as the front office manager at a primary care office in the San Juan Islands.

Sabine Jean Guillaume

Sabine Jean Guillaume is a Research Coordinator at North Shore University Hospital and Long Island Jewish Hospital. She recently graduated from the City College of New York with a M.S. in Biotechnology. During her graduate years, she worked at the Vuong Laboratory where she conducted research on immunoglobulin class switch recombination in mice. Sabine also has a B.S. in Biomedical Informatics. During her undergraduate years, she worked as a Research Associate at the Ronald O. Perelman Department of Emergency Medicine at NYU Lutheran Hospital, where she enrolled patients in various research studies.

Kaylyn Abdul Jabar

Kaylyn Abdul Jabar is a Research Coordinator at Hassenfeld Children’s Hospital at the NYU Langone Health site. She enjoys having a role in Newborn screenings; she believes early intervention is essential to health care. She has experience in newborn screening as she was an audiology technician and screened countless newborns. She attended Spelman College, where she earned a bachelor’s degree in Biology.

Aliza Quinones

As far back as she can remember, Aliza has always enjoyed working with newborns and children. From wanting to care for her younger family members as a little girl, to spending her free time during high school caring for the two newborns of a close friend, Aliza has always felt passionate about newborn care. Aliza has nearly fifteen years’ experience working in pediatric pulmonary care, newborn audiology screening in the well-baby and neonatal intensive care units, and as a recruiter for our previous newborn screening pilot study for lysosomal storage disorders. At ScreenPlus, Aliza continues to pursue her passion for newborn health as the Senior Clinical Interviewer/Research Coordinator for the Weiler Hospital site, where she educates and engages parents about ScreenPlus and newborn screening and provides insight to improve our recruitment strategies.

Benjamin Tamarin

Benjamin is the Research Coordinator at the NYU Langone Brooklyn site where he informs patients about ScreenPlus and enrolls them in the study. He previously worked on clinical trials for Multiple Myeloma treatments at the Tisch Cancer Institute at Mount Sinai Hospital first as a Clinical Research Assistant and later as a Clinical Research Coordinator. He has a Bachelor’s degree in Communication Studies from Northeastern University.

Mian Hua Zheng

Community Advisory Board (CAB)

Amy Blum

National Gaucher Foundation

Amy Blum is Chief Operating Officer of the National Gaucher Foundation (NGF). Since 1991, she has devoted her career to focusing on disability advocacy, nonprofit development, and management.

In 1996, she founded and built a nonprofit, independent school in Maryland for students with diverse learning needs. Ms. Blum served as the organization’s president and executive director for more than a decade.

Ms. Blum recognizes the importance of community-based nonprofits. She views her role at the NGF much like an orchestra conductor in that collaboration can create a harmonious symphony that strikes a chord in the heart of every family.

Pam Crowley-Andrews

NPC Firefly Fund

Pam is a public health official in Texas where she serves as a Policy Advisor at Texas’ Health and Human Services Commission and also at the Department of State Health Services (DSHS) as an appointed public member to the states’ Newborn Screening Advisory Committee. Pam has assisted clients in a variety of roles in both the public and private sector during her 25+ year career. She is also a philanthropist and in 2016 became a rare disease parent and advocate. Inspired by their daughters’ diagnosis with Niemann Pick Type C, Pam and Chris Andrews created the Firefly Fund, which is dedicated to creating a path for newborn screening for NPC. Pam is dedicated to ensuring that babies yet to be born with NPC don’t endure the long and arduous diagnostic odyssey experienced by her daughter Belle.

Justin Hopkin, M.D.

National Niemann-Pick Disease Foundation

Dr. Justin Hopkin is chief of the division of Hospital Medicine at the University of Rochester in upstate New York. He is also the board chair for the National Niemann-Pick Disease Foundation, the national patient advocacy and family support organization for the United States.

Jack Johnson

Fabry Support and Information

Jack Johnson is the Executive Director & Founder of the Fabry Support & Information Group (FSIG). With the support of affected family members, FSIG was formed in 1996. After years in a volunteer role as President of the Board of Directors Jack stepped down from the board to take on the position of Executive Director. Jack is responsible for much of the strategic vision of FSIG along with overall day-to-day management. Coming from a family with a long history of Fabry disease involvement, providing support and advocacy for others in the Fabry community has always been a matter of great personal importance. His years of experience have contributed beneficial knowledge to the international Fabry community.

Sean Kassen, Ph.D.

Ara Parseghian Medical Research Fund (APMRF)

Sean Kassen is the Director of the Ara Parseghian Medical Research Fund at the University of Notre Dame. In this role he is responsible for administering all of the functions of the Fund which includes advancing Niemann-Pick Type C (NPC) disease research, fundraising, managing the grants program, and raising awareness of NPC disease.

Sean has been intimately involved in these efforts to find a cure for NPC disease for the past 10 years. Prior to this new position, he was the Director of Academic Advancement for the College of Science at the University of Notre Dame.

Sean received his undergraduate degree in biochemistry from Alma College in Alma, MI and his Ph.D. in cell and molecular biology from the University of Notre Dame.

Maria Kefalas, Ph.D.

Cure MLD

Terri Klein

MPS Society

Terri Klein is the President and CEO of the National MPS Society, a non-profit organization dedicated to acting as a support group for families affected by mucopolysaccharidoses (MPS), mucolipidoses (ML) and other related disorders. She has experience in major donor relationship building, operations, and a history of working in the non-profit industry. She received a Graduate Certificate in Nonprofit Management from North Carolina State University. She will be receiving her Masters of Public Administration (MPA) from North Carolina State University in December 2021. She received a Bachelors of Science in Human Resources Management from the Madonna University School of Business.

Cara O'Neill, M.D.

Cure Sanfilippo Foundation

Dr. O’Neill completed her medical education at West Virginia University School of Medicine and Pediatric Residency at the University of South Carolina. She has worked in private practice and academic settings. The O’Neills founded Cure Sanfilippo Foundation after their daughter’s diagnosis in 2013 and have spread awareness about Sanfilippo syndrome around the world. As Chief Science Officer, O’Neill leads the Foundation’s patient-focused research efforts. She collaborates with other non-profit groups on advocacy and research, as well as oversees funding of scientific programs. Her uniquely-paired career and life experiences enable her to bridge gaps between scientists, clinicians, industry, and families, helping foster patient-centered research and translational paths for rare disease treatments.

Cindy Parseghian

Ara Parseghian Medical Research Fund (APMRF)

Ms. Parseghian, along with her husband Michael, is the cofounder of the Ara Parseghian Medical Research Foundation. The Foundation was formed in 1994 in an effort to find a cure for Niemann-Pick Type C disease, which claimed the lives of 3 of their 4 children.

In 2016, the Foundation was merged with a Fund at Notre Dame. Ms. Parseghian has dedicated her life to raising more than $50 million in 26 years for the critical NP-C research. Of the more than 400 rare disease organizations in America, the APMRF has raised more funds than perhaps any other.

Dean Suhr

MLD Foundation

Dean Suhr is the co-founder & President of MLD Foundation, which has been serving the MLD community for over 20 years. Dean got involved in Newborn screening around 2010 and has attended a majority of the ACHDNC advisory committee meetings since then. In 2016 he provided the RUSP-alignment language tying California’s condition review timeline to the federal RUSP (SB 1095). In 2015 Dean launched the RUSP Roundtable (not MLD-specific) as a forum to bring together key perspectives from the NBS, public health, research, clinical care, biopharma, advocacy, payor, regulatory, and other ecosystems to address current and future opportunities to improve the system. MLD Foundation has been leading the effort to develop the MLD assay and work toward state and international implementation.

Christine Waggoner

Cure GM1 Foundation

Christine Waggoner and her husband Douglas Dooley founded the Cure GM1 Foundation in April 2015 in honor of their daughter Iris and all those affected by GM1 Gangliosidosis. Christine graduated from Brown University where she studied Visual Art and Computer Science. The combination of studies in art and technology served as a basis for her career in computer graphics and 3D feature film animation. Founding and running Cure GM1 is a true labor of love to help bring a treatment to all those affected by GM1 Gangliosidosis.

Scientific Advisory Board (SAB)

Robert J. Desnick, M.D., Ph.D.

Robert J. Desnick, Ph.D., M.D., is a human geneticist and Dean for Genetics and Genomic Medicine, and Professor and Chairman Emeritus of the Department of Genetics & Genomic Sciences at the Icahn School of Medicine at Mount Sinai. Desnick is a past director of the American Board of Medical Genetics (ABMG), a Founding Diplomat of the American College of Medical Genetics (ACMG), and past chair of the Association of American Medical Colleges (AAMC). His expertise includes the inborn errors of metabolism, and has made major research and clinical contributions to the lysosomal storage diseases and the porphyrias. He has been continuously funded by the NIH for over 40 years. He earned a Ph.D. in genetics from the University of Minnesota Graduate School in 1970 and his M.D. from the University of Minnesota Medical School in 1971. He completed an internship and a residency in pediatrics at the University of Minnesota Hospitals. He is ABMG certified in clinical, biochemical, and molecular genetics.

Michael Gelb, Ph.D.

COI: Collaborator with Takeda, PassageBio, Neurogene, BioMarin, Ultragenyx, Forge Biologics.

Aaron Goldenberg, Ph.D., M.S.

Dieter Matern, M.D., Ph.D.

COI: Collaborator with Mayo Clinic Laboratories.

Joseph Muenzer, M.D., Ph.D.

Dr. Muenzer is a Professor of Pediatric Genetics and Metabolism at the UNC School of Medicine. He received both his MD and PhD from Case Western Reserve University, and completed his residency in pediatrics at University of Wisconsin-Madison and fellowship at National Institutes of Health in Pediatric Endocrine and Genetics. Dr. Muenzer is a pediatric geneticist and researcher, with special interest in congenital metabolic disorders such as Mucopolysaccharidoses (MPS). He conducts research on progressive brain disease in children with MPS II and works to develop new avenues of treatment in children with MPS including clinical trials to test new forms of intravenous enzyme replacement therapy as well as alternative therapies, such as gene therapy and intrathecal drug delivery devices.

Forbes D. Porter, M.D.

Dr. Forbes D. Porter is a Senior Investigator in the Intramural Research Program of the NICHD at the NIH. He has served as the Clinical Director for NICHD since 2010. Dr. Porter earned his MD and PhD from Washington University in St. Louis and trained in Pediatrics and Clinical Genetics at St. Louis Children’s Hospital. Dr. Porter formed his own basic and clinical research groups at the NIH starting in 1996. His group’s goal is to combine both basic and clinical science to understand the pathological processes contributing to these disorders and to develop and test therapeutic interventions. Dr. Porter was elected to be a member of the Association of American Physicians this past year.

Michael Watson, Ph.D., FACMG

Dr. Watson is an Adjunct Professor of Pediatrics at Washington University School of Medicine and Executive Director of the American College of Medical Genetics and Genomics the ACMG Foundation for Genetic and Genomic Medicine. He received his MS in Medical Genetics and his PhD in Physiology & Biophysics from the University of Alabama at Birmingham. His postdoctoral training was in the Medical Genetics Training Program at Yale University School of Medicine. He served on the Board of Directors of the American College of Medical Genetics and chaired numerous ACMG Committees. He was co-chair of the NIH/DOE Task Force on Genetic Testing.He is project director of HRSA’s National Coordinating Center for Regional Genetics and Newborn Screening Collaborative Groups and for the Newborn Screening Translational Research Network (NBSTRN) Coordinating Center. He is also a co-P.I. for the ClinGen Resource Project, an NIH/NHGRI funded project to clinically annotate genome variation.

Conflict of Interest Statement

ScreenPlus team members may report the details of affiliation(s) or involvement(s) in an organization or entity with a financial or non-financial interest in the subject matter or materials discussed on this website as it pertains to the ScreenPlus research. The specifics of these interests are listed below their biography.