Board of Directors
The Beck-Fahrner Syndrome Foundation is completely led by the volunteer efforts of parents of children affected by Beck-Fahrner syndrome. Our Board members are unpaid volunteers that support our mission and vision. We are currently looking to expand our Board and welcome any interested candidates.
Jaime Middaugh, Founder
Jaime has a Bachelor of the Arts in Communication and Spanish from Rutgers University, as well as a Master of Education in Family Education from the University of Minnesota. She has dedicated the past 20 years teaching in an Early Childhood setting, with most recently teaching as a Parent Educator for a public school district outside of Minneapolis, Minnesota. Her daughter, Brielle, was diagnosed with Beck-Fahrner Syndrome in July of 2021. At the time of receiving her daughter’s diagnosis, Jaime was told that there were only twelve other reported cases of Beck-Fahrner Syndrome in existence. With no place to turn for information or support, Jaime decided to create a “space” for Beck-Fahrner syndrome using her daughter’s middle name as inspiration for our violet logo.
Ashley has an Associate degree in Medical Laboratory Technology from Ivy tech in Terre Haute, IN. She is currently pursuing her Bachelor degree in Medical Laboratory Science at the University of Arkansas for Medical Sciences. For the last 5 years, Ashley has worked at an academic health care facility as a Medical Laboratory Technician. Her son, Zack, in November of 2020, at the age of 20, was diagnosed with Beck-Fahrner Syndrome. Her son was her inspiration to pursue working in a lab. He was undiagnosed for 17 years, since the age of 3. He had gone through several genetic tests over the years with no answers. Ashley never gave up hope. In January of 2021, was when she came across the Beck-Fahrner Syndrome Foundation and found support from other families. Ashley has hopes in becoming an advocate for families.
Medical and Scientific Advisory Board
The Medical and Scientific Advisory Board assists the Beck-Fahrner Syndrome Foundation in understanding and interpreting clinical and scientific research related to Beck-Fahrner Syndrome.
Jill A. Fahrner, MD, PhD
Dr. Jill Fahrner is an Assistant Professor in the Departments of Genetic Medicine and Pediatrics at the Johns Hopkins University School of Medicine. She is a physician-scientist with a long-standing interest in epigenetic mechanisms of disease, and she directs the multidisciplinary Epigenetics and Chromatin Clinic at Johns Hopkins. Her focus is on caring for individuals with epigenetic and chromatin disorders, and she has seen hundreds of individuals with these conditions. The goal of her laboratory research is to understand disease mechanisms of and develop therapies for Mendelian disorders of the epigenetic machinery, like Beck-Fahrner syndrome. She earned her PhD in Cellular and Molecular Medicine from Johns Hopkins. Her work led to multiple publications in the field of cancer epigenetics and improved our understanding of the roles of DNA methylation and histone post-translational modifications in silencing genes in cancer. She earned her MD from the University of North Carolina and completed Pediatrics residency training at Duke University Medical Center. She completed Clinical Genetics residency training and served as Chief Resident in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins. She is a long-standing member of the American Society of Human Genetics (ASHG), having won an ASHG Reviewer’s Choice Abstract Award for her work on growth retardation in Kabuki syndrome 1. She has received a Johns Hopkins School of Medicine Clinician Scientist Award, a Musculoskeletal Pilot and Feasibility Award, a William and Ella Owens Medical Research Foundation Award, and the Margaret Ellen Nielsen Fellowship Award. In addition to the above, her research funding has included a prestigious Hartwell Foundation Individual Biomedical Research Award and a National Institutes of Health K08 Career Development Award for her work on Kabuki syndrome 2 and Weaver syndrome and a Maryland Stem Cell Research Foundation Launch Award and a Johns Hopkins Catalyst Award for her work on Beck-Fahrner Syndrome. Dr. Fahrner led the international collaboration to delineate Beck-Fahrner syndrome, which she previously referred to as TET3 deficiency, and identified a genome-wide DNA methylation profile to aid in diagnosis. Her ongoing research aims to better understand the clinical features and molecular mechanisms of Beck-Fahrner syndrome and ultimately to identify treatments.
Jacqueline Harris, MD, MS
Dr. Harris is currently the director of the Epigenetics Clinic at Kennedy Krieger Institute and a Neurology/Medical consultant to the Neurobehavioral Unit at Kennedy Krieger Institute. She also is an assistant professor in pediatrics, neurology and genetics at The Johns Hopkins University School of Medicine. She specializes in patients with epigenetic disorders with neurologic and/or cognitive manifestations including Kabuki syndrome, Rubinstein-Taybi syndrome, Wiedemann-Steiner syndrome, Angelman syndrome, Kleefstra syndrome, Sotos syndrome, Malan syndrome, and KAT6A disorder. Dr. Harris received her BA with Honors in English Language and Literature and Neurobiology from The University of Chicago. She earned an MD from Cleveland Clinic Lerner College of Medicine of Case Western Reserve University and an MS in Clinical Research Scholars Program from Case Western Reserve University. She completed a residency in pediatrics at the Children’s Medical Center at UT Southwestern. Dr. Harris is interested in genetic and epigenetic causes of neurodevelopmental disorders – particularly intellectual disability – and how specific genetic and epigenetic changes lead to specific neuroanatomic, neurophysiologic and cognitive phenotypes. She is also interested in developing specific cognitive profiles in genetic syndromes as potential outcome measures for trails and to help localize deficits.