Who We Are

Wendy Chung, MD, PhD

Clinical and Molecular Geneticist and Physician

Wendy Chung is the Principal Investigator of the GUARDIAN study. She is a clinical and molecular geneticist and the Kennedy Family Professor of Pediatrics and Medicine at Columbia.  

Among her many awards, Dr. Chung was the recipient of the NY Academy of Medicine Medal for Distinguished Contributions in Biomedical Science, the Rare Impact Award from the National Organization of Rare Disorders, and the  Presidential Award for Outstanding Teaching.  She is a member of the National Academy of Medicine and the American Association of Physicians. Dr. Chung has identified over 50 new genetic conditions and has authored over 500 scientific papers. 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. 

Certified Genetic Counselor

Carrie Koval, MS, CGC

Carrie has been a certified genetic counselor for over 25 years.

Carrie has been a certified genetic counselor for over 25 years. She has worked with families at risk for genetic conditions including childhood and adult-onset conditions. Carrie works with underserved communities and is bilingual in English and Spanish. She has been involved with newborn screening pilot programs for the past 5 years.  She interacts directly with participants of newborn screening studies to provide genetic counseling and facilitate genetic testing as needed.
Research Assistant

Billy Jin

Billy is a research assistant

Billy is also a graduate student pursuing his MPH. He is passionate about science communication and enjoys making a difference in helping babies be healthy. In his free time he enjoys cooking, fishing, and hanging out with his pet bunnies.
Research Assistant

Samantha Ratner

Samantha is a research assistant.
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Samantha Ratner is a research assistant. She graduated from the University of Michigan with a BS in Biology, Health, and Society. She is passionate about helping families make informed decisions about participating in research.
Research Assistant

Sephora Delice

Sephora is a Research Assistant

Sephora Delice is a research assistant. She graduated from Muhlenberg College with a BS in Neuroscience and French, and a minor in Public Health. Sephora is currently working on her MBS at Geisinger School of Medicine. Sephora is very passionate about research and making a difference in healthcare.

Paul Kruszka MD, MPH, FACMG

Research Scientist

Denise M. Kay, PhD

Dr. Kay is a Research Scientist with the Newborn Screening Program at the New York State Department of Health.

Dr. Kay is a Research Scientist with the Newborn Screening Program at the New York State Department of Health. Her background is in genetics and genetic epidemiology, and her work is focused on addressing challenges in newborn screening, including improving current methods and algorithms, and developing and implementing novel assays for both existing and ‘new’ conditions. A primary focus is on assessment of novel molecular technologies and expanded genetic analysis. The ultimate goal is to translate knowledge gained from these studies into routine public health practice.
Director of Newborn Screening Program

Michele Caggana, Sc.D., FACMG

Dr. Caggana is the Director of the Newborn Screening Program at the New York State Department of Health.

Dr. Caggana is the Director of the Newborn Screening Program at the New York State Department of Health. She is board certified in Clinical Molecular Genetics. She is the Deputy Director for the Division of Genetics and Co-Lead of the Genetic Testing Section for the Clinical Laboratory Evaluation Program. The laboratory has received funding from the Centers for Disease Control and Prevention, the Health Resources and Services Administration, the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the Association of Public Health Laboratories to improve screening and to investigate the addition of new conditions to the panel. Such studies include consented pilots for spinal muscular atrophy and Duchenne muscular dystrophy.