SCIENTIFIC ADVISORY BOARD
We are honored to have the following men and women contribute their energy to Project CASK on our scientific advisory board. We value their leadership on our roadmap to a cure, recommendations on research grants to support, guidance on course correction and new avenues of inquiry as needed to drive forward effective treatment options for CASK gene disorders.
Kimberly Aldinger, PhD
Dr. Kimberly Aldinger is an assistant professor of Pediatrics in the Division of Genetic Medicine and an adjunct assistant professor of Neurology at the University of Washington. She is also a principal investigator in the Center for Integrative Brain Research at Seattle Children’s Research Institute. Dr. Aldinger completed her Bachelor’s degree in Biology at Brandeis University, her Master’s degree in Psychology at Harvard University, and her PhD in Neurobiology at the University of Chicago. Following her graduate work, Kimberly trained as a post-doctoral fellow in developmental neuroscience at the University of Southern California in Los Angeles, before accepting a position at Seattle Children’s Research Institute. The Aldinger laboratory studies the genetics and development of pediatric neurological disorders. The aim of this work is to understand how genetic and cellular changes lead to specific clinical symptoms, with the hope that a better understanding of disease pathways will lead to more effective and targeted therapies for pediatric neurogenetic disorders.
Xilma Ortiz-Gonzalez, MD, PhD
Dr. Ortiz-Gonzalez is a physician-scientist specializing in pediatric neurogenetics. Her clinical work focuses on finding a unifying genetic diagnosis for children with rare neurodevelopmental disorders. Her research is informed by her patients and focuses on understanding how genetic changes, in particular those affecting mitochondrial function, cause disease so we can develop better treatments for these children in the future. Dr. Ortiz-Gonzalez is also one of the physicians with the most experience treating children with CASK related disorders. Dr. Ortiz-Gonzalez developed an interest in mitochondrial disease and learned from the families she saw in clinic the long and difficult journey that many have endured just to obtain a genetic diagnosis. She focuses her clinical efforts in neurogenetics and continues to pursue additional research in mitochondrial biology. Specifically, her research focuses on developing patient-derived stem cells to better understand why neurons and heart cells seem particularly affected by mitochondrial disease. Dr. Ortiz-Gonzalez is also interested in how mitochondrial dysfunction may lead to neurodegeneration in children affected with rare disorders. Her clinical work led to the co-discovery of the syndrome caused by mutations in the gene TBCK. She continues to work in trying to understand why patients with changes in this gene have neurologic symptoms, in particular why children with the Boricua mutation seem to have a neurodegenerative course. Her long-term goal is to develop new disease models that inform the cause of these rare genetic disorders, with the hope that better therapies can ultimately be developed for the affected children. Dr. Ortiz-Gonzalez’s notable accomplishments include: Collaborating to identify TBCK as a novel disease gene, and characterizing the systemic and neuromuscular symptoms in patients with the Boricua TBCK mutation Identifying the new clinical syndromes due to gene mutations that usually present with epilepsy, intellectual disability and/or neuromuscular weakness in children. Some of the new disease genes identified from patients in the neurogenetics clinic: TBCK, SPTBN4, RHOBT2, MED13, GRIN2D, CHD3, SPATA5. Some of these discoveries have been translated into personalized treatments for patients Working in human stem cell models of heart disease due to genetic defects affecting mitochondrial function (ANT1 cardiomyopathy) Establishing that adult bone marrow cells were cabable of generating other tissues in the body (pluripotency), including neurons, at a time when this was a challenge to scientific dogma
ChangHui Pak, PhD
Focus: How synaptic cell adhesion and signaling guide synaptic function and connectivity in the developing human brain and their contributions to neuropsychiatric disorders Background and Training PhD: Emory University School of Medicine Postdoc: Stanford University School of Medicine The Pak lab is interested in human brain development especially in the context of synapses, which are the functional and mature units of neuronal communication in the brain. We use innovative tools in stem cell biology and state-of-the-art neurobiology techniques to understand the molecular and cellular mechanisms governing synapse formation and function during normal development. We are also actively investigating how these processes are misregulated in the formation and manifestation of neuropsychiatric diseases, such as intellectual disability, autism spectrum disorders, and schizophrenia, which are considered synaptic disorders. Nerve cells in the brain communicate through specialized junctions called synapses. Synaptic connections need to be properly formed, specified and maintained during development and throughout life. Aberrations in this process lead to various neuropsychiatric diseases such as intellectual disability, autism spectrum disorders, and schizophrenia. Therefore, understanding the fundamental roles of proteins important for synaptic development and function is crucial to enhance our understanding and treatment of these disorders. To this end, we are currently interested in two major areas: 1. Developing novel tools to better model human synaptic development. 2. Understanding the normal functions of synaptic cell adhesion molecules and their signaling partners and how are they misregulated in disease states. To do this, we take a multidisciplinary approach including, human pluripotent stem cell derived neural cells, genome engineering, patient derived iPSCs, synaptic biology, cell and molecular biology.
Florence Porte-Thomé, PharmD
Florence Porte-Thomé is a Founder and the R&D Director of EspeRare, a nonprofit organization that works hand-in-hand with patients to rescue and reposition therapies in rare diseases, thus accelerating the development of accessible treatments for these underserved patients. Florence brings 15 years’ experience in R&D and a background in immunology and oncology. After graduating as a doctor in pharmacy in Lyon and a first degree in clinical pharmacology, she joined Merck in 1997 in the field of clinical pharmacology and pharmacokinetics, leading translational research and managing early clinical studies. Still with Merck, she became a programme leader and successfully led several R&D programmes in various therapeutic areas. Recently after a return to academia in the field of immunology and oncology, she worked as a clinical project leader, driving paediatric studies in a Cancer Research Centre in Lyon. Growing up with a cousin affected with Duchenne muscular dystrophy and seeing him gradually decline, Florence has an unconditional motivation to drive forward treatment for rare diseases.
Edward Romasko, PhD, MBA
Dr. Edward Romasko is the Director of Clinical and Research Business for the Department of Pathology & Laboratory Medicine at Children's Hospital of Philadelphia (CHOP). Diagnosed with Type 1 Diabetes at CHOP as a teen, he experienced firsthand the transformative power of medical breakthroughs when he discovered that his insulin was a product of recombinant DNA technology. His desire to pursue a career at the intersection of biomedical research and healthcare was due to the inspiration and world-class care he received during his time as a patient. Dr. Romasko completed his Bachelor's degree in Bioinformatics at the University of the Sciences in Philadelphia and earned his Ph.D. in Molecular Biology & Genetics in the Fels Institute for Cancer Research, Temple University School of Medicine. After graduate school, he returned to CHOP to help establish best practices for genomic sequencing in pediatric patients in the PediSeq Project as part of the multi-center Clinical Sequencing Exploratory Research Consortium. He spent the next several years analyzing clinical genomic tests, writing reports, and contributing to related research & development projects within CHOP's Division of Genomic Diagnostics. Moving from the lab, Dr. Romasko completed an MBA and transitioned to administrative leadership roles within the Department of Pathology & Laboratory Medicine, blending his scientific expertise with his knowledge of complex academic department business operations. Dr. Romasko lives in South Jersey with his wife Erica and their three children, Eddie, Anna, and Olive. He is the proud uncle of a boy thriving with a CASK gene disorder. He is eager and grateful to be part of a team whose mission is to accelerate breakthroughs in research to develop treatments and ultimately a cure.
Asim Shahid, MD
Dr. Asim Shahid is an associate professor of clinical pediatrics in the Department of Pediatrics at Weill Cornell Medicine and an Attending Pediatric Neurologist/Epileptologist at New York-Presbyterian Brooklyn Methodist Hospital. He also serves as the division chief of pediatric neurology and epilepsy at NYP Brooklyn Methodist Hospital with the task of expanding the services provided by the division. Before joining the Brooklyn faculty, Asim served as division chief of pediatric neurology and epilepsy at Rainbow Babies and Children's Hospital in Cleveland Ohio. Asim obtained his medical degree from Universidad Iberoamericana in Dominican Republic and completed his pediatric residency in Morristown, NJ before pursuing his pediatric neurology fellowship at Rainbow babies and Children's Hospital in Cleveland, OH. He then completed his epilepsy training at University Hospitals of Cleveland. Asim has worked as a pediatric epileptologist since 2009 treating patients with medically refractory epilepsies with special interest in patients with epileptic encephalopathies, tuberous sclerosis complex and those with surgically remediable epilepsies. Asim also has an interest in clinical trials for patients with medically refractory epilepsy. Asim believes in providing timely, high-quality care to all his patients and focuses on family centered model. Given his interest in education and aligning with the academic mission of the institution, he strongly believes in evidence-based medicine and staying up to date with the latest research.
Sarika Srivastava, PhD
Dr. Sarika Srivastava is a Research Assistant Professor at the Fralin Biomedical Research Institute at Virginia Tech and Assistant Professor, Internal Medicine, at the Virginia Tech Carilion School of Medicine. Dr. Srivastava received her doctorate in Molecular Cell and Developmental Biology from the University of Miami School of Medicine and undertook Postdoctoral Fellowships in Cell Biology at the University of Miami and Harvard University School of Medicine. Her research is focused on understanding how mammalian sirtuins impact mitochondrial bioenergetics, function and metabolism in healthy and disease states by employing a multi-disciplinary approach that involves biochemical, cell biological and mouse modeling experiments. The long-term goal of her research is to understand and identify novel signaling pathways that can improve mitochondrial dysfunction during disease and aging. Dr. Srivastava is undertaking a five-year study to investigate the mechanisms of CASK loss-of-function mutation associated epileptic encephalopathy, funded by a $2 million grant from the National Institute of Neurological Disorders and Stroke, a part of the National Institutes of Health. She hypothesizes that one of CASK’s roles is to control the function of mitochondria and will conduct the key parts of the study in her laboratory, in collaboration with grant partners, Howard Goodkin Professor of Neurology, Harald Sontheimer, Professor and Chair of Neuroscience and Dr. Konark Mukherjee, Assistant Professor at VTC who researches the effects of CASK mutations.