Our Scientific Team is made up of dedicated individuals constantly collaborating to find a therapeutic for PACS1 Syndrome
Dr. Gary Thomas, Ph.D. (website)
Dr. Gary Thomas earned his Ph.D. in Biochemistry from the University of Basel in 1984. He was awarded a postdoctoral fellowship from the Damon Runyon-Walter Winchell Cancer to study molecular neurobiology at the University of Oregon. In 1987, he joined the faculty of the Vollum Institute at the Oregon & Health Science University.
His lab uncovered an essential family of intracellular proteases that generate bioactive peptides and proteins ranging from insulin to neurotrophins. He leveraged these studies to discover PACS1 and other members of the PACS gene family. With continuous support from NIH, Dr. Thomas’ team was the first to report the multi-functional roles of the PACS proteins in homeostasis and disease by integrating cytoplasmic protein traffic and interorganellar communication with the control of nuclear gene expression.
Dr. Thomas has consulted for biotech startups and major pharmaceutical companies, has chaired national and international conferences, has served on review panels for numerous granting agencies and scientific journals, and has testified before the U.S. Congress. Dr. Thomas is currently Professor at the University of Pittsburgh School of Medicine where he investigates the roles of the PACS proteins in the DNA damage response, metabolism and PACS1 Syndrome.
Dr. Nicholas Katsanis, Ph.D. (website)
Dr. Katsanis obtained his first degree in Genetics from UCL in London in 1993 and his doctorate from Imperial College, University of London in 1997. He then joined the laboratory of Dr. Lupski at Baylor College of Medicine, where he initiated his studies on Bardet-Biedl syndrome. In 2002, he relocated to the Institute of Genetic Medicine, Johns Hopkins University where he led studies that unified several allied conditions under the ciliopathy umbrella. In 2009, he moved to Duke University to establish the Center for Human Disease Modeling, where he is the Director; this new structure aims to facilitate collaboration across disciplines and to develop physiologically relevant tools to study variation found in human patient genomes.
As part of that effort, Dr. Katsanis leads the Taskforce for Neonatal Genomics. This multidisciplinary group of physicians and basic scientists strives to synthesize genomic and biological data for the faster diagnosis, improved/focused clinical care, and potential therapeutic paradigms, for infants and neotates with genetic conditions. In parallel, the Katsanis lab pursues questions centered on the signaling roles of vertebrate cilia, the translation of signaling pathway defects on the causality and possible treatment of ciliary disorders, and the dissection of second-site modification phenomena as a consequence of genetic load in a functional system.
In recognition of his work, Dr. Katsanis was awarded the Young Investigator Award from the American Society of Nephrology in 2009, the E. Mead Johnson Award from the Society for Pediatric Research in 2012, the Curt Stern Award form the American Society of Human Genetics and has delivered several Distinguished lectures. Dr Katsanis is a Professor in the Departments of Cell Biology and Pediatrics and holds the Brumley Distinguished Professorship. In 2015, he also founded Rescindo Therapeutics, a target and drug discovery company with a primary focus on rare genetic disorders, where he also serves as its Chief Scientific Officer. He has published over 270 research papers, reviews, and book chapters, serves on several advisory, editorial, and organizational boards and has delivered over 150 lectures in 22 countries.
PACS1 NEUROLOGY, EPILEPSY AND NATURAL HISTORY STUDIES
Dr. Tobias Loddenkemper, M.D.(website)
Dr. Tobias Loddenkemper is a pediatric neurologist and epileptologist at the Epilepsy Center at Boston Children’s Hospital, directs the Clinical Epilepsy Research and Neurology Quality Improvement Programs at Boston Children’s Hospital, and serves as an Associate Professor at Harvard Medical School. He trained in adult neurology, pediatric neurology, epilepsy and clinical neurophysiology at Westfälische Wilhelms-Universität Münster and at Cleveland Clinic.Dr. Loddenkemper received several awards, including the Early Career Physician Scientist Award by the American Epilepsy Society, and the Dreifuss-Penry Epilepsy Award by the American Academy of Neurology, published over 200 original manuscripts, co-edits Seizure, and Wyllie’s Treatment of Epilepsy 6th and 7th editions, and currently serves as President of the American Clinical Neurophysiology Society.
In an attempt to discover a relationship to biomarkers and ultimately novel processes that set the stage for epilepsy in the developing brain, Dr. Loddenkemper’s work intends to provide novel approaches to rational monitoring and treatment for patients with difficult to treat seizures, status epilepticus and related variants, such as electrical status epilepticus in sleep.
SCIENTIFIC ADVISORY BOARD
Reviews funding proposals and makes recommendations on direction of research
Dr. Joseph Gleeson, M.D. (website)
Dr. Gleeson received an M.D. from the University of Chicago, residency in pediatrics and neurology at Harvard Medical School and Children’s Hospital Boston and then postdoctoral training in neurobiology and genetics at Harvard Medical School. He is the Rady Professor in Pediatrics and Neuroscience at the University of California San Diego, and in the Rady Children’s Institute for Genomic Medicine.
He has served as the Hess Professor at the Rockefeller University and Director of Mendelian Sequencing at the New York Genome Center. He is an Investigator with the Howard Hughes Medical Institute and a member of the US National Academy of Science Institute of Medicine. During his training in Child Neurology, Gleeson realized that the way forward for the specialty was to improve molecular characterization of the many individual genetic contributions towards his patients. During his postdoctoral fellowship with Christopher Walsh he identified the cause for lissencephaly, and after establishing his lab, developed a molecular classification for Joubert syndrome.
This work led to the Middle East, where the burden of consanguinity (cousin marriages) greatly increased the burden of disease. He eventually built a collaborative network of hundreds of physicians. Coupled with advanced molecular tools and the tremendous power of gene mapping, his lab has identified the causes for dozens of previously unknown unique molecular and clinical conditions, helping to usher in the era of ‘precision medicine’ in child neurology.
Dr. Arthur L Horwich, MD.(website)
Dr. Horwich is Sterling Professor of Genetics and Pediatrics at Yale School of Medicine and Investigator of the Howard Hughes Medical Institute. He received undergraduate and MD degrees from Brown University, trained in Pediatric Medicine at Yale, then was a postdoctoral fellow in the Tumor Virology Lab at the Salk Institute and in Genetics at Yale, where he subsequently joined the Genetics Faculty and has remained. His independent work identified a mutant affecting the proper folding of imported mitochondrial proteins, which proved to be a double ring assembly, Hsp60, a chaperonin. He focused on structure and mechanism of action of the related bacterial chaperonin, GroEL and its cooperating “lid” component, GroES.
His most recent work focuses on ALS mice transgenic for a mutant superoxide dismutase 1. He has been recognized by membership in the National Academy of Sciences and Institute of Medicine, and has received a number of international awards including: Gairdner International Award, Wiley Prize in Biomedical Sciences, Rosenstiel Award in Basic Medical Science, Louisa Gross Horwitz Prize, Shaw Prize in Life Science and Medicine, and Lasker Award for Basic Medical Research.
Dr. Sidney Strickland, Ph.D.(website)
Sidney Strickland received a BS in chemistry from Rhodes College and a PhD in Biochemistry from the University of Michigan. He was a postdoc at The Rockefeller University in New York City, and stayed at Rockefeller as an Assistant and Associate Professor. He became a Distinguished Professor at the State University of New York at Stony Brook, and returned to Rockefeller to his current position as Professor and Head, Patricia and John Rosenwald Laboratory of Neurobiology and Genetics, and Dean of The David Rockefeller Graduate Program and Vice-President for Educational Affairs.
Dr. Strickland’s lab works on the relationships between cognitive dysfunction and the circulatory system. Specifically, they have shown that the Aβ peptide can both promote the formation and also inhibit the dissolution of blood clots. The increased and persistent clots that result could contribute to Alzheimer’s disease and other dementias by causing insufficient blood flow to critical cells and by inducing chronic inflammation.
Dr. Strickland has received a National Science Foundation Graduate Fellowship; a Jane Coffin Childs Postdoctoral Fellowship; an American Heart Association Established Investigator award; the William Catacosinos Professorship at Stony Brook; a John Simon Guggenheim Fellowship; an Honorary Professorship from Fudan University; an International Society for Fibrinolysis and Proteolysis Prize; a Doctor of Science, Honoris causa, from Rhodes College; an Innovative Research Award, Alzheimer’s Drug Discovery Foundation & Elan Pharmaceuticals; and a Zenith Award from the Alzheimer’s Association.
Dr. Jean-Dominique Vassalli, M.D., Ph.D. (website)
Dr. Vassalli is the former president and current chairman of the Scientific board of the Brocher Foundation, which encourages multidisciplinary research in the ethical, legal and social implications of the development of medical research and biotechnologies.
He was the Rector of the University of Geneva from 2007 to 2015. He has a diploma in Medicine from the University of Geneva (1972), a PhD from Rockefeller University, NYC (1977) and a Doctorate in Medicine from University of Geneva (1984). In 1986 he was appointed professor of developmental biology in the Faculty of medicine, University of Geneva.
His laboratory was involved in studies on extracellular proteolysis in mammalian embryogenesis, inflammation and neuronal function, and translational control of gene expression in gametogenesis. He is the recipient of the Cloetta Prize(1988), and the International Society of Fibrinolysis Prize and Thrombolysis Prize (1994). He is an ad personam member of the Swiss academy of Medical Sciences (2001).
PACS1 CLINICAL GENETICISTS
Dr. Wendy Chung, M.D.,Ph.D. (website)
Wendy Chung is a board certified clinical geneticist with a PhD in molecular genetics. She received her MD from Cornell University and her PhD from The Rockefeller University. She is director of the clinical genetics program at Columbia University and heads a research laboratory investigating the genetic bases for a variety of Mendelian and complex traits. She is also the Director of Clinical Research at SFARI in the Simons Foundation's. She is a human geneticist whose current NIH funded research activities include efforts to identify genes and their relevant allelic variants related to the development of autism, neurodevelopmental disorders, congenital diaphragmatic hernia, congenital heart disease, and several other rare genetic conditions. She strives to integrate genomics into medicine in a cost effective, efficient, and ethical manner to improve patient outcomes. She is the author of over 300 peer-reviewed articles and 50 chapters.
Chung was named one of New York Magazine's "best doctors" and one of America's "top doctors" by Castle Connolly Medical Ltd. She received the American Academy of Pediatrics Young Investigator Award, the Medical Achievement Award from Bonei Olam, and a career development award from Doris Duke.
Dr. Janneke Schuurs-Hoeijmakers Ph.D (website)
Johanna (Janneke) Hendrica Maria Schuurs-Hoeijmakers was born on March 26, 1982 in Zevenhuizen, the Netherlands, as the second child in a family of five. In 2000 she passed her secondary education (with a cum laude degree) at the Coenecoop College in Waddinxveen. In the same year she started studying Medicine at Leiden University. Next to her studies she developed a passion for the rowing sports and was part of the women racing team of the A.L.S.R.V. Asopos de Vliet for two years after which she exchanged her position in the boat for a position as coach for the women racing teams for several years. She got fascinated by genetics and heritable human disorders during an internship at the Clinical Genetics Department at the Leiden University Medical Centre. She obtained her medical degree in February 2008.
From June 2008 till May 2012 she worked as a Ph.D. student at the department of Human Genetics at the Radboud University Nijmegen Medical Centre (Promotoren: Prof. H.G. Brunner and Prof. H. van Bokhoven and co-promotoren: Dr.B.B.A. de Vries and Dr. A.P.M. de Brouwer). Her Ph.D. project was part of the research project “Genes and Mental Retardation” which was funded by ZonMW (ViDi to Dr. B.B.A. de Vries, M.D.). The aim of her research was to identify mutations in individuals with intellectual disability in whom the routine diagnostic work-up does not provide a molecular basis for their disorder. There was a special focus on non-consanguineous families with multiple affected siblings. Results were presented during several international meetings, including the 12th International Congress of Human Genetics in Montréal, Canada, 2011, where Janneke received an Young Investigator Travel Award for her presentation “Massive parallel sequencing of all human protein-coding genes identifies PACS1 as a new gene for a new intellectual disability syndrome”. Her thesis was entitled “Gene identification in intellectual disabilty” (December 2012, cum laude). In May 2012 Janneke started her training in Clinical Genetics (Department of Human Genetics, Radboud university medical center). She is looking forward to finishing the training in June 2018 and continuing her work as a geneticist. Since the identification of the PACS1 gene as cause for a rare syndromal form of intellectual disability, she has a special interest in these individuals and their families. She also has a special interest in genetic immune disorders. She is married to Klaas Jan Schuurs and has four children.