MEDICAL AND SCIENTIFIC ADVISORY BOARD

The Medical and Scientific Advisory Board assists the Foundation in understanding and interpreting clinical and scientific research related to Malan syndrome. An additional role of the Advisory Board will be to review research proposals. As part of our mission, the Malan Syndrome Foundation is committed to supporting research investigating the underlying causes of Malan syndrome and treatment for this disorder. In the future, we hope to accomplish this by awarding research grants from our charitable fundraising efforts. 

Click on the names below to be directed to their professional web pages.

Dr. Fahrner is an Assistant Professor of Pediatrics and Genetics at the Johns Hopkins University School of Medicine. She is a physician-scientist with a long-standing interest in epigenetic and related disorders. Within her multidisciplinary Epigenetics and Chromatin Clinic at Johns Hopkins, her focus is on caring for individuals with epigenetic and related disorders involving developmental delay/intellectual disability and abnormal growth. These include overgrowth disorders like Sotos Syndrome, Malan Syndrome, and Weaver Syndrome, among others. Her laboratory research is focused on understanding molecular 

mechanisms and developing therapies for abnormal growth associated with Mendelian disorders of the epigenetic machinery and related disorders. She has been the recipient of and has ongoing research funding from private foundations and the National Institutes of Health.

She received her PhD in Cellular and Molecular Medicine from the Johns Hopkins University School of Medicine after completing her research in the laboratory of Dr. Stephen Baylin. Her work culminated in multiple publications in the field of cancer epigenetics and led to a better 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 her Clinical Genetics residency training in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins. After staying on as chief resident, she joined the faculty as Assistant Professor in the Department of Pediatrics within the McKusick-Nathans Institute of Genetic Medicine.  She is a long-standing member of the American Society of Human Genetics and received an ASHG Reviewer’s Choice Abstract Award. She has received a Johns Hopkins School of Medicine Clinician Scientist Award, a Johns Hopkins School of Medicine Musculoskeletal Pilot and Feasibility Award, and the Margaret Ellen Nielsen Fellowship Award while at Johns Hopkins. She is the recipient of a prestigious Hartwell Foundation Individual Biomedical Research Award.

Dr. Gronostajski is a Professor of Biochemistry at the University at Buffalo (UB), Founder and Head of the Developmental Genomics Group at the New York State Center of Excellence in Bioinformatics and Life Sciences and Director of both the Western New York Stem Cell Culture and Analysis Center and the Genetics, Genomics and Bioinformatics Graduate Program at UB.  He also holds an adjunct faculty position in the department of Molecular and Cellular Biology at Roswell Park Cancer Institute.  Dr. Gronostajski received his B.Sc. and M.Sc. in Biochemistry from Virginia Polytechnic Institute and State University and his Ph.D. in Physiology from Harvard University.

 

 

His doctoral studies investigated the role of intracellular proteolysis on cell cycle regulation and his postdoctoral work at the Albert Einstein College of Medicine and the University of Toronto addressed mechanisms of adenovirus and cellular DNA replication and mechanisms of FLP-mediated site-specific recombination, respectively.

 

Prior to joining UB in 2001, he held academic positions in the Ontario Cancer Institute and University of Toronto Department of Medical Biophysics (1985-92) and in the Cleveland Clinic Foundation Lerner Research Institute Department of Cancer Biology and Case Western Reserve University Department of Biochemistry (1992-2001).  He is a member of AAAS, the ISSCR and the Society for Developmental Biology and has performed reviews for various journals, the NIH and the Wellcome Trust.  He has authored over 100 peer-reviewed articles, most on the role of the Nuclear Factor I (NFI) transcription factors in animal development.  His laboratory uses mouse Embryonal Stem Cells to generate mutant mice for studying development and is currently investigating the role of NFIX in adult neural stem cell homeostasis and how it relates to Malan and Marshall-Smith syndromes.

Dr. Jacqueline Harris is an Assistant Professor of Pediatrics, Neurology, and Genetics at Kennedy Krieger Institute and Johns Hopkins Hospital. Dr. Harris has a long standing clinical and research interest in genetic and epigenetic causes of intellectual disability which includes Malan syndrome. Her clinical work focuses on the neurologic and neurodevelopmental aspects of these disorders and her research is on neurocognitive and neurophysiologic characterization of and designing outcome measures for potentially treatable genetic intellectual disability syndromes. 

Dr. Harris obtained her MD from Cleveland Clinic Lerner College of Medicine and her Masters degree in Clinical Research from Case Western Reserve University in 2010. She went on to Pediatrics residency at UT Southwestern Medical Center in Dallas, TX and did her Neurodevelopmental Disabilities fellowship at Kennedy Krieger Institute/Johns Hopkins Hospital. She then joined the faculty as Assistant Professor. She is a recipient of the Neurobiology of Disease in Children Young Investigator Award and has research funding looking at pre-clinical trial studies in several epigenetic disorders.

Dr. Menke is a pediatrician at Emma Children’s Hospital at the Amsterdam University Medical Centers. Since receiving her medical degree, she has worked at the crossroads between Pediatrics and Clinical Genetics, both in clinical care and in research. She finished her Pediatric training in 2016 and is now further sub-specializing in ‘Hereditary and Congenital Disorders’. Additionally, Dr. Menke is Co-founder and Coordinator of the Amsterdam Expert Center for Orphan Disorders (AECO), a  center which provides clinical care for children and adults with Malan, Marshall-Smith, Rubinstein-Taybi, Cornelia de Lange, and Pitt-Hopkins syndromes.

She earned her MD from the University of Amsterdam and completed Pediatrics residency training from Juliana Children's Hospital, Leiden University Medical Center.  She completed her PhD with the Dutch Growth Research Foundation at Erasmus Medical Center, Leiden University Medical Center. Her doctoral studies focused on Turner syndrome in children and adults. 

Dr. Piper is an Associate Professor in the School of Biomedical Sciences at the University of Queensland, Australia. The overarching goal of his research is to understand brain development, and how abnormalities in this process culminate in disease. Specifically, Dr. Piper’s work focuses on a fundamental aspect of neural development, namely how neural stem cells produce neurons and glia, and how these neurons subsequently form the connections critical for brain function. His group has developed a suite of tools to enable the cellular and molecular dissection of the genes that regulate these processes, and systems enabling them to probe functional deficits arising from abnormal neural development. A major focus of Dr.

Piper's laboratory is understanding the function of the gene, NFIX, during brain development. By defining the role for NFIX in brain development, the Piper lab aims to provide a deeper understanding of how Malan syndrome develops.  

Dr. Priolo is a Medical Geneticist at Azienda Ospedaliera Bianchi-Melacrino-Morelli in Reggio Calabria, Italy.

DISCLAIMER

The information provided on this website is not intended to be a substitute for professional medical advice. No images on this site may be used without the written consent of the Malan Syndrome Foundation.

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