Scientific Team

Our Scientific Team is made up of dedicated individuals constantly collaborating to find a therapeutic for PACS1 Syndrome

CURRENTLY FUNDED RESEARCHERS

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.


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Dr. Angela Gronenborn, Ph.D. (website)


Dr. Angela Gronenborn heads the Department of Structural Biology at the University of Pittsburgh School of Medicine and holds the UPMC Rosalind Franklin Chair.

Dr. Gronenborn was trained as a chemist and received both her undergraduate and PhD degrees from the University of Cologne, Germany. Her interest in NMR spectroscopy originated in her graduate work that focused on quantum mechanical calculations of NMR parameters.

Throughout her career, Dr. Gronenborn was involved in developing NMR methodology for structure determination of biological macromolecules. Dr. Gronenborn is an elected Fellow of the Royal Society of Chemistry, U.K., the American Association for the Advancement of Science and the International Society of Magnetic Resonance. She is a member of the Washington and New York Academies of Sciences and was elected to the National Academy of Sciences, the Norwegian Academy of Arts and Letters, the German National Academy of Sciences (Leopoldina) and the American Academy of Arts & Sciences.

Dr. Gronenborn has published extensively on structural studies of proteins, nucleic acids and their complexes with other macromolecules or small ligands. A substantial number of publications concern methodological contributions to NMR technology and integrated structural biology approaches and provide insight into how best to apply NMR to elucidate important problems in the biosciences. In recent years, Dr. Gronenborn has focused on extending the application of NMR to the study of larger systems. In the area of HIV research, Dr. Gronenborn directs the Pittsburgh Center for HIV Protein Interactions (PCHPI).


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Dr. Alicia Guemez-Gamboa, Ph.D. (website)


Dr. Alicia Guemez-Gamboa earned her BS in Biology and her PhD in Biomedical Sciences from the Universidad Nacional Autonoma de Mexico. She then completed postdoctoral training at the University of California, San Diego and at The Rockefeller University. Her research aimed to understand how neural circuits assemble during development and disease by uncovering fundamental means of neural differentiation, synaptic formation, cell death and their functional interaction. Dr. Guemez-Gamboa is currently an Assistant Professor at the Department of Physiology at the Feinberg School of Medicine in Northwestern University.

Dr. Guemez-Gamboa’s laboratory is focused on investigating how neural circuit dysfunction leads to neurodevelopmental disorders including ASD and epilepsy, by coupling human genetics, next generation sequencing, and disease modeling using animal and stem cells. Particularly, the Guemez-Gamboa group uses induced pluripotent stem cells (iPSCs) from patients as well as CRISPR edited iPSC to generate neural progenitors, neurons, and forebrain organoids predisposed to neurological disorders. Characterization of these models helps elucidating the mechanisms of disease of a variety of brain connectivity defects and laying the groundwork for the development of new therapeutic approaches and personalized medicine.


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Dr. Stacey Rizzo, Ph.D. (website)


Dr. Stacey Sukoff Rizzo is a behavior pharmacologist by training and holds a BS in Animal Sciences from Rutgers University and a PhD in Neuroscience from University College London. Dr. Rizzo is currently an Associate Professor at The University of Pittsburgh School of Medicine and also serves as Director of The University of Pittsburgh’s Preclinical Phenotyping Core Facility for rodents and marmosets. She is an internationally recognized expert in behavioral phenotyping of animal models.

Dr. Rizzo recently held the position of Director of Neurobehavioral Phenotyping for The Jackson Laboratory (JAX) and Associate Director for Jax’s Center for Biometric Analysis where she established the core behavioral phenotyping facility and testing platforms for investigating genotype-phenotype relationships in mouse models of Neurodegenerative disorders (Alzheimer’s, Parkinson’s, and Huntington’s Diseases), Neuropsychiatric disorders (depression, anxiety, schizophrenia), Neurodevelopmental and Autism Spectrum Disorders, Addiction, Cognition, and Aging. Prior to joining JAX, Dr. Rizzo held positions in the pharmaceutical industry in Neuroscience Drug Discovery departments supporting and leading large-scale drug discovery projects from early exploratory biology through IND-enabling stages at Wyeth Ayerst Research, Merck Research Laboratories, Aventis Pharmaceuticals, and Pfizer. During her tenure with Pfizer, Dr. Rizzo served as Principal Scientist and Interim Head of Pfizer’s Autism In Vivo Group, and Group Leader of Pfizer’s Neurobehavioral Core where she was responsible for designing and executing the preclinical screening strategies encompassing pharmacokinetics, pharmacodynamics, and behavioral pharmacology approaches.

Dr. Rizzo’s laboratory is focused on maximizing genetics and systems biology data from clinical datasets in patient populations, which can be used to inform selection and generation of new animal models and targets, and comprehensively characterizing these models to identify robust and reliable translational phenotypes that can be used to study the trajectory of disease progression and as model systems for evaluating the potential of novel therapeutic agents.


PACS1 NEUROLOGY, EPILEPSY AND NATURAL HISTORY STUDIES

Dr. Anne berg, Ph.D.(website)


Anne T. Berg, PhD is a Research Professor at Northwestern Feinberg School of Medicine and a member of the Epilepsy Center at Ann&Robert H Lurie Children’s Hospital of Chicago.

Dr. Berg’s research has focused on the “natural” history and outcomes of pediatric seizures and epilepsy with a specific emphasis on seizure outcomes, developmental and cognitive consequences of epilepsies and the impact all of these have on quality of life of patients and families. In 2007, she played a key role in focusing NINDS research priorities on the cognitive, developmental, and behavioral co-morbidities of epilepsy and organized sessions at the American Epilepsy Society meeting to investigate these areas and identify research opportunities for improving patients’ outcomes. In 2013, she co-Chaired the NINDS-sponsored Curing Epilepsies conference and also organized and led the workshop, “Priorities in Pediatric Epilepsy Research: Improving Children’s Futures Today.”

She was one of the initial founders of the Pediatric Epilepsy Research Consortium (PERC) which has grown to over 40 centers in the US and is laying the foundation and creating the infrastructure for practice-changing clinical research to improve the diagnosis, treatment, and outcomes of children with early life epilepsies and associated developmental brain disorders.


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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.


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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.


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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.


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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.


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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).


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Dr. Wendy Chung, M.D., Ph.D. , Dr. Nicolas Katsanis, Ph.D. , Dr Jannekke Schuurs-Hoeijmakers Ph.D.