Dr. Scott Demarest is an assistant professor in the Department of Pediatrics, Division of Neurology and the Adult & Child Consortium for Health Outcomes Research and Delivery Science. He is board certified in Neurology with special qualification in Child Neurology as well as Epilepsy. His clinical practice and research focus on the evaluation and treatment of early-life genetic epilepsies. This includes clinical trials for novel therapies for epilepsy, conduct of natural history studies and the development of better outcome measures for early life epilepsies. He received a Bachelor of Science in biology from the University of Texas at Austin before going on to medical school at the University of Texas Health Science Center in San Antonio. He completed his residency in Pediatrics and child neurology at Children’s National Health System in Washington, DC and his Epilepsy fellowship at Children’s Hospital Colorado.
Katherine Helbig, MS, LCGC, is a genetic counselor in the Division of Neurology at Children’s Hospital of Philadelphia and Co-Director of the Epilepsy Neurogenetics Initiative. She provides genetic counseling to families in the Epilepsy Neurogenetics Clinic. Ms. Helbig has a research interest in identifying new genetic causes of infantile and childhood onset epilepsies and understanding how genetic variation leads to seizure disorders. She has led gene-discovery efforts in the epilepsies and related neurological disorders and has particular expertise in genomic analysis and variant interpretation in the epilepsies. An additional area of clinical and research interest is improving access to genetic services for people with epilepsy and understanding how genetics can improve health outcomes. She is an active member of the epilepsy genetics research community, including the Epi25 Collaborative and the EuroEPINOMICS Consortium, and is a founding member and co-chair of EpiGC, the consortium of epilepsy genetic counselors.’
Ariana P. Mullin, PhD, is the current Executive Director of the Huntington’s Disease Regulatory Science Consortium (HD-RSC) at Critical Path Institute, a Tucson, Arizona-based non-profit (501(c)(3)). In this role, Mullin leads a global collaboration of drug developers, Huntington’s disease experts, non-profit science research and patient advocacy representatives, and global regulators, with the aim of creating new tools and methods to advance efficient clinical development and to inform regulatory needs for approval of HD therapeutics.
Dr. Mullin joined C-Path in 2017, prior to which she worked at Acorda Therapeutics (Ardsley, NY) where she was a pre-clinical scientist working to evaluate and develop animal models of neurodegenerative diseases, with a focus on multiple sclerosis and remyelinating therapies. Mullin is passionate about developing much-needed therapies across the neurological diseases and is honored to serve HD families in her current role by helping to shape regulatory strategy and accelerating HD drug development through collaboration. Mullin brings over 10 years of expertise in animal models of rare, genetic, neurological disorders as well as her experience in drug development in the neurology space and a deep understanding of the regulatory landscape and challenges. A neuroscientist and electrophysiologist by training, Mullin earned a B.S. in Neuroscience from Trinity College (Hartford, CT) and a Ph.D. from Emory University (Atlanta, GA), where her work focused on understanding the influence of rare genetic variations on synaptic vesicle trafficking dynamics and neurodevelopment.
Dr. Mazur enjoys all aspects of general pediatrics, and has a special interest and experience in the care of medically complex children.
She moved here with her husband, Erik, and three young children from Texas, and feels fortunate to live in such a beautiful and welcoming community. Aside from her full time job as a mom, she enjoys working in the garden, cooking, reading and muddling through various DIY home improvement projects.
Dr. Lal is a biomedical data scientists, who is specialized on the human genetics of epilepsy. His primary affiliation is with the Cleveland Clinic Genomic Medicine Institute and the Epilepsy Center, Cleveland, US. In addition, Dr. Lal is also affiliated with the Broad Institute of MIT and Harvard, Cambridge, US as well as the Cologne Center of Genomics in Germany. His team uses genetic data from in-house and globally collected patient cohorts to discover genes related to epilepsy syndromes, to develop novel methods for interpreting missense variants and to characterize patient disease trajectories. Through his research, Dr. Lal hopes to increase our understanding of how alterations in the genome contribute to neurodevelopmental disorders and, ultimately, to improve patient outcomes.
Amy Rojas, PharmD, is a pediatric clinical pharmacist. Originally from Tuscaloosa, Alabama, Dr. Rojas completed her Bachelor of Science in biology at the University of Alabama and graduated with her Doctor of Pharmacy from the Auburn University Harrison School of Pharmacy. After graduation, she moved to Atlanta, Georgia where she completed an ASHP-accredited pharmacy practice residency at DeKalb Medical/Emory Healthcare. Dr. Rojas practiced as a pediatric clinical pharmacist for over nine years at Children’s Healthcare of Atlanta where she provided comprehensive pharmaceutical care for pediatric patients with rare disease. Dr. Rojas brings a passion for advancing rare disease research and improving the lives of patients with these conditions. Her areas of interest are in rare disease, gene therapy, neurology, hematology, oncology, immunology, and infectious disease.
Ivan G. Bassets, Ph.D., is R&D Director at Universal Sequencing Technology (UST, Carlsbad, CA), a company specialized in next-generation sequencing (NGS) technologies and the mission to lead the next wave of DNA-sequencing innovations. Ivan brings over 15 years of experience in genomics and functional genomics with publications in some of the most impactful scientific journals, including Nature, Cell, Nature Genetics, Neuron, and Cell Reports Medicine. As Adjunct Associate Professor/Associate Research Scientist at the University of California, San Diego (UCSD), Ivan has worked with iPSC-derived models in 2D and 3D formats (cerebral organoids), genome and epigenome editing (CRISPR), multi-omics approaches, short- and long-read NGS, machine learning, and single-cell NGS methods. He is an expert in postnatal molecular mechanisms of human brain maturation. Ivan received a Bachelor of Science in Biochemistry from the Universitat Autonoma of Barcelona before graduating with a Ph.D. in Biochemistry and Molecular Biology. He completed his postdoctoral training at UCSD in the laboratory of Howard Hugues Medical Investigator Dr. Geoff Rosenfeld.
Dr. Eyo is a glial researcher. The brain is made up of neurons and non-neurons called glia. Dr. Eyo has been studying one of these glia, the microglia, for almost 15 years. In the research proposal now supported by Uplifting Athletes to study microglial reactivity in SLC6A1 disease, the EyoLab has two broad goals. First, we would like to examine any effects that an SLC6A1 gene mutation has on central microglial features and functions in mice. Second, we will examine the possibility that replenishing microglia in mice with an SLC6A1 gene mutation would improve the outcome of the condition such as increased anxiety and seizure occurrence in mice. Together, these studies will open up pre-clinical studies that we hope can inform new possibilities to use microglia as a candidate to improve the lives of children with SLC6A1 disease.