Science and Medicine
Elizabeth Berry-Kravis, MD, PhD (Child Neurology: Rush)
Dr. Berry-Kravis is a Pediatric Neurologist and Professor of Pediatrics, Neurological Sciences, and Biochemistry at Rush University Medical Center in Chicago. She established the comprehensive Fragile X Clinic and Research Program in 1991, through which she provides care to over 600 patients with fragile X syndrome (FXS). Her research has included studies of medical issues, epilepsy and psychopharmacology in FXS, characterization of neurological problems in FXTAS, and in particular translational work in FXS including outcome measures and biomarkers, natural history, newborn screening, and design and implementation of clinical trials of new targeted treatments in FXS. Her laboratory studies the cellular role of fragile X mental retardation protein (FMRP), relationship between FMRP and clinical function, and methods for optimizing genetic testing in fragile X-associated disorders. More recently she has expanded clinical management and translational work to other developmental and degenerative disorders including Phelan McDermid syndrome. She is on advisory boards for National Fragile X Foundation and numerous pharmaceutical companies working in the neurodevelopmental and neurodegenerative disorders space. She is Chair of the Clinical Committee of the Fragile X Clinical and Research Consortium. She has received numerous awards and honors including the Jarrett Cole Award for clinical work in FXS in 2002, the Hagerman Award for excellence in FXTAS research in 2004, the FRAXA Champion Award in 2011, an Autism Speaks Top Ten Research Accomplishment for 2012, the Ups for Downs Commitment to Excellence Award in 2012, the NFXF William and Enid Rosen Research Award in 2014, the March of Dimes Jonas Salk Research Award in 2015, the American Academy of Neurology Sidney Carter Award in Child Neurology in 2016 and the John Merck Fund Sparkplug Award in 2016.
Thomas Bourgeron, PhD (Professor and Head of Human Genetics and Cognitive Functions, Université de Paris, Institut Pasteur)
Prof. Bourgeron’s work is devoted to studying genes involved in brain development and functioning, particularly in the context of autism. He and his team were the first to identify a set of genes which are highly associated with autism. Among these genes was SHANK3, a critical gene in neuronal communication which is often altered in Phelan-McDermid syndrome. Prof. Bourgeron is involved in large-scale international projects aimed at better characterizing autism and PMS. He currently leads the genetics and the database work packages of the AIMS2-trials, and he has done foundational work in brain imaging, studying serotonin and melatonin in autism, and characterizing animal models of autism and PMS. He is an active member of the PMSF Scientific Advisory Committee, and he is passionate about supporting every aspect of the ASD/PMS journey, including diagnosis, treatment, support systems, and resiliency. Website: https://research.pasteur.fr/en/member/thomas-bourgeron/
Judith Coucouvanis, MA, PMHCNS-BC
Judy is a psychiatric nurse practitioner at the University of Michigan Department of Psychiatry, Division of Child and Adolescent Psychiatry. She has been a clinician for over 40 years, specializing in the treatment of children with developmental disabilities, severe behavior challenges, autism spectrum disorders and co-occurring conditions. She is a national speaker on topics of behavior management, social skills training, psychopharmacology, educational strategies, and toilet training.
Julia Dallman, PhD (Associate Professor of Biology, University of Miami)
Dr. Dallman has extensive experience studying zoology and neurobiology. She is now an Associate Professor at the University of Miami and is Director of the University of Miami Zebrafish Facility. Her research is focused on how genes impact behavior, especially in the context of neurological disorders. She is particularly interested in how alterations to distinct genes often converge on similar symptoms. Her work leverages the power of zebrafish models to gain large amounts of information quickly. In Phelan-McDermid syndrome, Dr. Dallman has published important work in gastrointestinal motility in a zebrafish model of the syndrome and is actively working to study motility in humans with PMS. Website: https://people.miami.edu/profile/j.dallman@miami.edu#panelAbout
Guoping Feng, PhD (Poitras Professor of Neuroscience, McGovern Institute for Brain Research; Director of Model Aystems and Neurobiology, Stanley Center for Psychiatric Research at the Broad Institute; Institute Member, Broad Institute of MIT and Harvard)
Dr. Feng is a Professor of Neuroscience in the McGovern Institute for Brain Research at the Massachusetts Institute of Technology (MIT). He also directs model systems and neurobiology in psychiatric research at the Broad Institute of MIT and Harvard. Dr. Feng’s research is devoted to understanding the development and function of synapses in the brain (the place where neurons communicate). He also studies the dysfunction of synapses in disease, with a special focus on psychiatric disorders. Dr. Feng has done foundational work studying SHANK3 – an important synapse gene which is highly connected with PMS and autism. He has generated animal models which harbor genetic alterations to SHANK3 and allow models of PMS to be widely studied in laboratories. He is also involved in developing technology and overseeing projects surrounding SHANK3 gene therapy. https://fenglaboratory.org/
Jimmy Holder, MD, PhD (Child Neurology; Texas Children’s Hospital)
Dr. Holder is an Assistant Professor of Pediatrics in the Division of Neurology and Developmental Neuroscience at Baylor College of Medicine. He received his undergraduate education at The Johns Hopkins University followed by MD and PhD in Human Genetics at the University of Texas Southwestern Medical Center in Dallas, Texas. He then completed his clinical training in Pediatrics and Child Neurology at Baylor College of Medicine. Dr. Holder has established a Synaptopathy clinic at Texas Children’s Hospital to care for children with neurological disorders due to mutations in genes critical for synapse function. In his laboratory, he studies how mutations in these same genes result in molecular, neuronal and circuit abnormalities. He is further investigating genetic modifiers of these genes as potential therapeutic entry points for neurodevelopmental disorders.
Teresa M. Kohlenberg, MD (Assistant Professor, University of Massachusetts Medical School; Member, PMS Neuropsychiatric Consultation Group (ECHO))
Dr. Kohlenberg (“Tesi”) is a board-certified pediatrician who also completed training in Developmental Pediatrics and in Child and Adolescent Psychiatry. For the past two decades she has worked in child psychiatry, and is an Assistant Professor in Psychiatry at the University of Massachusetts Medical School. Most of her work is in consultation to community service programs and in private practice.
Dr. Kohlenberg is also the mother of a 22 year old daughter who was diagnosed with a SHANK3 variant at age 16, two years after she developed complex neuropsychiatric illness.
Dr. Kohlenberg has published research on psychiatric illness and regression in people with PMS, and played a leadership role in the development of the PMS Neuropsychiatric Consultation Group, which provides consultation to doctors around the world caring for people with PMS with puzzling psychiatric illness. She is highly motivated to understand what triggers neuropsychiatric episodes and regression in PMS patients, and what interventions might prevent or relieve those episodes.
Alex Kolevzon, MD (Child Psychiatry; Mount Sinai)
Dr. Kolevzon is child and adolescent psychiatrist and Professor of Psychiatry and Pediatrics at Icahn School of Medicine at Mount Sinai. He has been the Clinical Director of the Seaver Autism Center since 2007 and the Director of Child and Adolescent Psychiatry for the Mount Sinai Health System since 2014. His clinical expertise revolves around autism and related neurodevelopmental disorders and his research is focused on developing biomarkers, novel outcome measures, and disease-modifying pharmacological interventions. Most recently, his group has focused on studying monogenic forms of autism, including Phelan-McDermid syndrome, in order to better understand the phenotype, explore possible targets for pharmacological intervention, and validate new outcome measures for use in clinical trials. He has participated in many multi-centered clinical trials, including IGF-1 in PMS and is currently the principal investigator on the PMS project for the Rare Disease Clinical Research Network entitled Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations.
Curtis Rogers, MD (Senior Clinical Geneticist, Greenwood Genetic Center, Founder and past Chairman, Phelan-McDermid Syndrome Foundation)
Dr. Rogers is a clinical geneticist with extensive experience evaluating individuals with intellectual disabilities, neurodevelopmental disorders, muscular issues, and birth defects. He is board certified in clinical genetics and pediatrics. He was actively involved in originally identifying and describing the 22q13 deletion syndrome alongside Dr. Phelan and Dr. McDermid. He has clinically examined many children with PMS and served as a Founder, Chairman, and Advisor of the Phelan-McDermid Syndrome Foundation. Dr. Rogers is an active member of the PMSF Medical Advisory Committee and advises many PMS families on genetic testing and clinical concerns.
Siddharth Srivastava, MD (Child Neurology; Boston Children’s Hospital):
Dr. Srivastava is a pediatric neurologist at Boston Children’s Hospital (BCH) specializing in neurogenetics. His research involves studying different genetic causes of neurodevelopmental presentations — such as autism, intellectual disability, cerebral palsy, and developmental regression — using the multimodal approach of gene discovery, cognitive/behavioral phenotyping, and biomarker identification. This approach not only pinpoints possible mechanisms of disease but also delineates appropriate targets for therapy in future clinical trials aimed at improving neurodevelopmental outcomes in these disorders. At Boston Children’s Hospital, he provides care to children in a variety of neurodevelopmental and neurogenetics clinics. He takes part in the Developmental Neurogenetics Program, which specializes in the diagnosis and management of genetic disorders associated with neurodevelopmental disabilities. Within this program, he sees patients in the Boston Children’s Hospital Phelan-McDermid Syndrome Clinic and PTEN Clinic, whose goals include optimizing long-term neurodevelopmental outcomes and coordinating specialty care across multiple disciplines. He received his B.A. degree in biochemistry from Columbia University and his M.D. degree from Johns Hopkins University School of Medicine. He finished a combined residency in pediatrics and neurodevelopmental disabilities at Johns Hopkins Hospital and the Kennedy Krieger Institute. He completed a fellowship in neurogenetics at Boston Children’s Hospital.
Audrey Thurm, PhD (Clinical Psychology; NIMH):
Dr. Thurm is a child clinical psychologist and Director of the Neurodevelopmental and Behavioral Phenotyping Service, and a staff scientist in the Office of the Clinical Director of the Intramural Research Program of the National Institute of Mental Health. Her research is clinical in nature, and focuses on behavioral phenotyping within and between clinical populations, specifically individuals with neurodevelopmental disorders. Her training and expertise includes evaluating and improving upon diagnostic and cognitive assessment instrumentation through longitudinal studies. She has worked extensively with infants, toddlers and children of various ages in clinical studies. She has contributed to novel investigations of cognitive, behavioral and medical aspects of Autism Spectrum Disorder (ASD), as well as to phenotypic explorations of genetic disorders associated with Intellectual Disability and ASD.
Family Sessions
Nick Assendelft (Communications Manager for the Michigan Unemployment Insurance Agency)
Nick Assendelft is Past Vice President of the Phelan-McDermid Syndrome Foundation, serving from 2002-2020 and currently is a member of the PMSF Emeritus Board, along with three other Founders of the PMS Foundation. He was instrumental in the evolution of the Foundation by working with volunteers, raising funds, planning conferences, communicating internally and externally, advocating for families and the Foundation, and expanding the Foundation’s global outreach. Nick also led the Communications Committee and was the editor of the PMSF UPDATE monthly newsletter since it was established in 1998.
He and his wife, Ruth, have a son, Jacob, who was one of the 25 original cases of Phelan-McDermid Syndrome to be diagnosed. Jacob has an older sister, Rachel, who also volunteers with the Foundation. The family has attended every Support Group conference since the inaugural gathering in Greenville, South Carolina, in 1998.
Nick is the Communications Manager for the Michigan Unemployment Insurance Agency. Prior to that he was a Spokesman for the Michigan Department of Environment, Great Lakes, and Energy, the Michigan Public Service Commission, and the Michigan Agency for Energy. Prior to that, he worked at newspapers in Detroit, New Orleans, Pittsburgh, Utica, N.Y., and other cities. He has a degree in journalism and political science from Central Michigan University. Nick also is a member of the Board of Directors of the Old Newsboys’ Goodfellows Fund of Detroit, which provides Christmas gifts to underprivileged children in the Detroit area.
Susan Lomas (Past President, Founder)
Sue is the wife of Rich Lomas and the mother of Sam. She graduated from Boston College, with a BA in English/Education and taught Special Education in Vermont. After her teaching career, Sue worked 7 years for a software company, the last 3 years as Project Manager of various software installations in Europe; Vienna, Milan, Zurich, London. Since the birth of her child, she retired from the public sector and began her new career as a volunteer. These activies include: Co-chair of the School Advisory/Management Team of Oak Park School, Sarasota; member of Sarasota County School Board Legislative Committee; member of Sarasota County’s Exceptional Student Advisory Board; Partners in Policy graduate, State of Florida; President Naples Horseback Riding Therapy group. The Lomas’ are also one of the original 25 families identified as having children affected by Phelan McDermid Syndrome Foundation (PMSF). Their son, Sam, was the first person diagnosed with 22q13 deletion in utero. Sue was elected President of PMSF in 2002 and helped establish its non-profit status in 2003. Sue served as board president from 2002-2020, also held interim executive director position two different times. Sue is a founder along with her husband of Sammy’s Run, a non profit organization promoting the awareness of people with disabilities.
Cat Valcourt-Pearce, MS (Coordinator of Publications and Managing Editor, Gallaudet University’s Laurent Clerc National Deaf Education Center)
Cat Valcourt-Pearce has been at the Gallaudet University’s Laurent Clerc National Deaf Education Center, in Washington, D.C., for almost 27 years. She is currently the coordinator of publications and managing editor of the Clerc Center’s Odyssey: New Directions in Deaf Education magazine. She also currently serves on the Phelan- McDermid Syndrome Foundation’s Board of Directors. Valcourt-Pearce and her husband, Larry, are the proud Deaf parents of four young sons—one hearing, one hard of hearing with multiple disabilities (including Phelan-McDermid Syndrome/ring chromosome 22 and neurofibromatosis 2), and hard of hearing fraternal twin