The Medical Advisory Board of the Mowat-Wilson Syndrome Foundation is a group of physicians who are among the most respected and experienced in their fields. All are currently practicing physicians who can also be affiliated with an academic institutions. Members of the Medical Advisory Board are appointed by the Boards of Directors and act in an advisory capacity in medical matters related to Mowat-Wilson Syndrome.
Margaret L. P. Adam
Margaret L.P. Adam, MD, is an attending physician at Seattle Children‘s Hospital and a professor in the Department of Pediatrics at the University of Washington School of Medicine. Dr. Adam’s clinical interests include the diagnosis and management of infants, children, and adolescents with a variety of genetic conditions.
Dr. Adam has a special interest in Mowat-Wilson syndrome, for which she has conducted clinical research. She also helps to run the Mowat-Wilson Syndrome registry. Additionally, Dr. Adam provides genetic consultations for pregnant women through the Prenatal Diagnostic Center at the University of Washington. Her current clinical research projects include working as a dysmorphologist on the Autoimmune Diseases in Pregnancy Project with Mother-To-Baby, on the Prevalence of Fetal Alcohol Spectrum Disorders in South Africa, and on a Kabuki syndrome pilot project.
Jay L. Vivian
Dr. Vivian is a Research Associate Professor in the Department of Pathology and Laboratory Medicine at the University of Kansas Medical Center (KUMC). He also serves as the Scientific Director of KUMC’s Transgenic Facility and Gene Targeting Institutional Facility. Dr. Vivian’s research focuses on the use of pluripotent stem cells as genetic and developmental models, tools for genetic engineering of the mouse, and as reagents for regenerative medicine. His research team makes substantial use of pluripotent stem cells and genetically modified mice for modeling rare and undiagnosed neurodegenerative disorders. Dr. Vivian received his Ph.D. from University of Texas-Houston M.D. Anderson Cancer Center in 1999, and received postdoctoral training at University of North Carolina at Chapel Hill. He has been at the University of Kansas Medical Center since 2004.
Meredith Wilson
Meredith Wilson is a consultant medical geneticist based in the Department of Clinical Genetics at Children’s Hospital Westmead, one of the two major paediatric hospitals in Sydney, New South Wales, Australia. After medical school in Adelaide, Meredith initially trained as a pediatrician in Sydney, then did further training in clinical genetics in Sydney and at the Murdoch Institute in Melbourne. She has been a consultant clinical geneticist since 1991 at the Children’s Hospital at Westmead and also at the Westmead adult hospital nearby. Meredith was Head of the Children’s Hospital Department of Clinical Genetics from 1998-2008 and head of the Westmead Hospital Adult Genetics service until this year, and was appointed as a Clinical Associate Professor in the University of Sydney in 2009. Meredith’s work involves many areas of clinical genetics, and includes consultations with families and patients of all ages, in prenatal, neonatal, paediatric and adult genetics areas. She has contributed to a number of scientific papers in regard to different genetic syndromes.
In the late 1990’s when David Mowat was also working at the Westmead Children’s Hospital, they together identified a group of children with very similar features, which they subsequently published in the Journal of Medical Genetics in 1998 as a “new” syndrome. That condition later became known as Mowat-Wilson syndrome, in acknowledgement of the fact that David and Meredith were the first to recognize and describe this important genetic syndrome.
David Mowat
Dr. David Mowat is an experienced clinician and researcher with a primary interest in the diagnosis of genetic causes of rare disease/ syndrome recognition and translational medicine to improve clinical outcomes. He is an AI in genomic projects in different disease cohorts including rare Mendelian disorders, intellectual disability and adult/ paediatric, neuromuscular disorders. He is responsible for the recognition of an important syndromal cause of intellectual disability – Mowat-Wilson syndrome and has contributed to the discovery of a number of novel disease-causing genes. He is the Co-Head of the Centre of Clinical Genetics and Co-director of the Tuberous Sclerosis clinic and research collaboration at Sydney Children’s Hospital.
Merlin G. Butler
Dr. Butler was raised on a small farm or ranch in the Sandhills of Nebraska (Stuart) and attended a rural one room school house from kindergarten to eighth grade, then graduated from Stuart High School in a class of 17 students in 1970. He attended Chadron State College (CSC) with scholarship support and graduated in 1974 (B.A.) and 1975 (B.S.). He majored in biology (pre-med) and received his M.D. from the University of Nebraska in 1978, M.S. from the University of Nebraska – Lincoln in 1980 and Ph.D. in Medical Genetics and postgraduate training at Indiana University. He was certified in Clinical Genetics and Clinical Cytogenetics by the American Board of Medical Genetics in 1984 and became a Founding Fellow of the American College of Medical Genetics in 1993. He has held several academic positions at Indiana University, Vanderbilt University, Children’s Mercy Hospital and University of Missouri - Kansas City and currently Director of Research and Genetics, Medical Director of the KUMC Genetics Clinic and Professor of Psychiatry, Behavioral Sciences and Pediatrics at the University of Kansas Medical Center. Dr. Butler received the Distinguished Service Award from Chadron State College in 1986, received the Distinguished Alumni Award from Indiana University in 2007 and was recipient of the Chancellor’s Club Research Award from the University of Kansas in 2016.
He has been an active member of several professional organizations, NIH grant study sections, editorial boards of journals, and have conducted extramurally funded research on Prader-Willi syndrome and obesity-related disorders, alcoholism, the genetics of autism and intellectual disabilities and delineation of rare and uncommon genetic disorders such as Mowat-Wilson syndrome. He has an active medical practice in clinical genetics and has been selected by “Consumers Research Council of America, Guide to America’s Top Physicians”, “Best Doctors in America” and “Castle Connelly Top Doctors”. Dr. Butler has published over 500 peer-reviewed research articles, multiple book chapters and authored two textbooks: Management of Prader-Willi Syndrome and Genetics of Developmental Disabilities.
John M. Schreiber
Dr. John M. Schreiber is a Child Neurologist, Neurophysiologist, and Epileptologist at Children’s National Health System and Pediatric Specialists of Virginia. He completed Pediatrics and Child Neurology training at Children’s National Health System in 2011, and an Epilepsy and Clinical Neurophysiology fellowship at the National Institutes of Health in 2013. His primary research interests are in the evaluation and management of refractory epilepsy, specifically in rare genetically-mediated epilepsies.
Jose Garza
In 2013, Dr. Garza joined the GI Care for Kids family. His training and interest in neurogastroenterology and motility bring specialized unique skills to our practice. Now GI Care for Kids is among a few centers in the country able to offer advanced motility studies for our patients.
Prior to joining GI Care for Kids Dr. Garza was Assistant professor of Pediatrics at Cincinnati Children’s Hospital; one of the leading centers in the country for gastrointestinal care, where he taught fellows and residents, performed motility studies and therapeutic endoscopy procedures with a particular focus in helping patients with gastroesophageal reflux disease, achalasia, constipation, fecal incontinence, gastroparesis, intestinal pseudo-obstruction, Hirschsprung’s disease, anorectal malformations, rumination and Ehlers-Danlos, among others.
Dr. Garza was born and raised in Mexico City, where he obtained his Doctorate in Medicine, graduating magna cum laude from Universidad Anahuac. In 2004, he moved to Cincinnati where he completed an internship and residency in Pediatrics at Cincinnati Children’s Hospital Medical Center, where he became interested in gastroenterology and earned the Schubert-Balistreri Award, he remained in Cincinnati to pursue a fellowship in Pediatric Gastroenterology, Hepatology, and Nutrition. While doing his fellowship Dr. Garza also completed a Master of Science in clinical and translational research and trained in neurogastroenterology and motility disorders.
He has presented his work on motility studies and pH-Impedance at national and international meetings and has authored research papers and book chapters in various topics including Hirschsprung’s disease, gastroesophageal reflux, chest pain, anorectal malformations, gastroparesis, constipation, dysphagia, gastrointestinal manifestations of Fanconi Anemia among other topics.
He has participated in many invited lectures at the University of Cincinnati medical school, University of Cincinnati college of nursing, Pediatric Academic Society annual meeting, Neonatology Grand Rounds, Pediatric Update, Pediatric Board Review Course, Pulmonary Conference Series, EDS professional conference, Dysphagia Series, Fanconi Anemia Research Foundation annual family meeting to name a few.
He is board certified in Pediatrics and Pediatric Gastroenterology, Hepatology, and Nutrition. He is a member of the North American Society for Pediatric Gastroenterology, and Hepatology, the American Gastroenterology Association and the American Neurogastroenterology and Motility Society.
Dr. Garza likes to spend time with his wife and 2 children, and is an avid soccer and football fan.
Rebekah Charney
Rebekah is a broadly trained researcher with expertise in molecular, developmental, and stem cell biology, next-generation sequencing, and bioinformatics. Her research integrates cutting-edge technology with embryology and stem cell biology to understand the gene regulatory logic underlying cell-fate specification and its relationship to human pathologies. She is particularly interested in malformations associated with an embryonic cell population called the neural crest, which contributes significantly to various tissues and organs in the body. Abnormal development of neural crest cells is linked to a range of pathologies, including craniofacial malformations, rare syndromes, and aggressive cancers. These conditions, collectively known as neurocristopathies, affect thousands of children born each year.
Rebekah recently joined the Department of Biochemistry at the Jacobs School of Medicine and Biomedical Sciences at the University at Buffalo as an Assistant Professor. She earned her Ph.D. from the Department of Developmental and Cell Biology at UC Irvine in 2016 and completed her postdoctoral training at UC Riverside’s School of Medicine. During her postdoctoral work, she received an NIH Kirschstein-NRSA individual postdoctoral fellowship (F32) and an NIH K99/R00 Pathway to Independence award. Rebekah has also been recognized for her dedication to teaching and mentoring, receiving the 2015 K. Patricia Cross Future Leaders award from the Association of American Colleges & Universities.
Livia Garavelli
Livia Garavelli, MD is a pediatrician and a medical geneticist, who initially trained as a pediatrician in Parma University, then did further training in medical genetics in Ferrara University and she is currently the Director of the Medical Genetics Unit, Maternal and Child Health Department, AUSL-IRCCS of Reggio Emilia (formerly Obstetric and Pediatric Department, Arcispedale S. Maria Nuova, Reggio Emilia), Italy.
Her fields of interest include clinical genetics, genetic counselling, postnatal diagnosis of genetic syndromes regarding infants, children and adolescents, follow-up of children with MCA/ID in addition to Mowat-Willson syndrome as well as skeletal dysplasias.
She has a particular and long-standing interest in Mowat-Wilson syndrome, which has led her to publish numerous articles and papers and inspired her to carry out extensive research. One of the most important of these research studies involved the identification of the DNA methylation signature of Mowat Wilson syndrome.
Sumantra Chatterjee
Dr. Sumantra Chatterjee is a Research Assistant Professor at the Center for Human Genetics and Genomics, NYU Grossman School of Medicine. He earned his PhD in developmental biology from the Genome Institute of Singapore, followed by a postdoctoral fellowship at Johns Hopkins University School of Medicine.
Dr. Chatterjee has made significant contributions to understanding the genetic underpinnings of Hirschsprung disease, a developmental disorder of the enteric nervous system. His groundbreaking work revealed how interactions between multiple genetic mutations converge to produce the observed clinical phenotype in patients.
Currently, his lab focuses on uncovering the complex genetic and cellular interactions underlying disorders that affect both the central and enteric nervous systems. This includes research on Mowat-Wilson Syndrome, where his team aims to dissect the genetic and mechanistic pathways that contribute to the spectrum of symptoms in these patients. Ultimately, his research seeks to inform therapeutic strategies for managing these challenging conditions.
Dr. Chatterjee is actively engaged with the scientific community, serving as a member of the American Society of Human Genetics, participating in NIH grant review panels, and contributing to the editorial boards of various scientific journals.
Maya Chopra
Dr. Maya Chopra is a physician-scientist with expertise in rare monogenic syndromes, particularly those affecting learning and development. Dr. Chopra graduated from medical school in 2000 from the University of NSW and subsequently obtained her Australian Board qualifications in Pediatric Clinical Genetics under the generous mentorship of Dr. David Mowat and Dr. Meredith Wilson. Following completing of her training, Dr. Chopra had transformative international experiences, serving as Clinical Geneticist at Royal Prince Alfred Hospital (Sydney) Shanghai First Maternity and Infant Hospital(Shanghai) and the Imagine Institute of Genetic Diseases (Paris), before being recruited to Boston Children’s Hospital.
Currently Dr. Chopra serves as Director of Translational Genomic Medicine at the Rosamund Stone Zander Translational Neuroscience Center at Boston Children’s Hospital and Assistant Professor of Neurology at Harvard Medical School. She leverages her expertise in the underpinning genetic mechanisms and clinical trajectories of rare neurodevelopmental disorders to develop translational pipelines towards therapeutic development in partnership with the rare disease community and collaborators. She is passionate about equitable access to diagnosis, precision care and opportunities to participate in research for all individuals with rare genetic disorders. Dr. Chopra is Clinical Geneticist in the Division of Genetics and Genomics, with a clinic focused on neurodevelopmental disorders.
