Scientific Advisory Board

RARE Hope relies on the deep and diverse experience of our close partners on the Scientific Advisory Board.

Al George, Jr. MD

Al George, MD is the Chair of the Department of Pharmacology and Director of the Center for Pharmacogenomics, and the Alfred Newton Richards Professor of Pharmacology at Northwestern University.

Dr. George has more than 30 years of experience in the field of channelopathies. His work focuses on genetic disorders caused by voltage-gated ion channel mutations that are responsible for disorders of membrane excitability including diseases affecting muscle, heart and brain that result in abnormal muscle contraction, cardiac arrhythmias, sudden death, epilepsy and related neurodevelopmental disorders.

Dr. George's laboratory has investigated the pathophysiology of AHC for the past several years.

Cat Lutz, Ph.D., M.B.A.

Cat Lutz, Ph.D., MBA, is Vice President of the Rare Disease Translational Center (RDTC) at The Jackson Laboratory.

With 25 years of experience in mouse genetics, Dr. Lutz leads numerous preclinical research projects using mouse models of human neurodegenerative diseases, with a focus on best practices in research and IND-enabling preclinical drug testing.

She serves as the Principal Investigator for multiple NIH-sponsored programs, including the Center for Precision Genetics, the Somatic Cell Genome Editing Center, and the Mouse Mutant Research and Resource Center.

A neuroscientist by training, Dr. Lutz has worked extensively with various models of the central nervous system.

Natalia Morsci, Ph.D.

Natalia Morsci, Ph.D., is an independent consultant with a background in molecular genetics and hands-on experience in genetic, transgenic, and imaging-based investigations into mechanisms of neurological dysfunction. Dr. Morsci has nearly ten years of experience advising patient organizations on their research-focused initiatives.

She has served as a scientific advisor for RARE Hope and Hope for Annabel since 2017, playing an active role in all projects within RARE Hope’s portfolio. She has also served on the board of Cure AHC, a patient organization for AHC, since 2020.

Hendrik Rosewich, MD

Hendrik Rosewich, MD, is the Medical Director of the Clinic for Pediatrics and Adolescent Medicine at the University of Tübingen in Germany. His clinical focus and expertise are in neuropediatrics, movement disorders, peroxisomal diseases, and inflammatory CNS diseases.

Dr. Rosewich has nearly 20 years of expertise in Alternating Hemiplegia of Childhood (AHC) and ATP1A3-related diseases. In addition to his clinical work with patients, his AHC research includes developing and characterizing cellular and organoid models of AHC.

Dr. Rosewich was elected Chairman of the Board of the Centre for Rare Diseases at Eberhard Karls University in Tübingen, Germany’s oldest rare disease center. He is also a member of the European Reference Network for Rare Neurological Diseases (ERN-RND).

Kathleen Sweadner, Ph.D.

Kathleen Sweadner, Ph.D., is an Associate Neurobiologist at Massachusetts General Hospital and an Associate Professor of Cellular and Molecular Physiology in the Department of Neurosurgery at Harvard Medical School.

Dr. Sweadner and her team use molecular, cellular, biochemical, genetic, and imaging approaches to study the structure, function, and transport of ion-transporting ATPases that control sodium, potassium, and calcium ion movements in and out of the cell.

Dr. Sweadner’s research is now focused on how a single-gene mutation in one allele can exert dominant effects.

Kathryn J. Swoboda, MD

Kathryn Swoboda, MD, is a neurologist and geneticist who recently retired from clinical practice. She is the former and inaugural Katherine B. Sims, MD, Endowed Chair in Neurogenetics at Massachusetts General Hospital, where she continues to collaborate closely with colleagues at the MGH Center for Genomic Medicine and Harvard Medical School, the American College of Medical Genetics and Genomics (ACMG)-sponsored Newborn Screening Translational Research Network, and the Chan Zuckerberg Initiative for Patient-Partnered Collaborations in Neurodegeneration.

Dr. Swoboda has more than 180 peer-reviewed publications, with over 15,000 citations. Her clinical expertise in Alternating Hemiplegia of Childhood (AHC) is unmatched. She has extensive experience leading clinical trials for neurological conditions involving both pharmacologic and genetic therapies.

Arn M.J.M. van den Maagdenberg, Ph.D.

Arn van den Maagdenberg, Ph.D., is Professor of Molecular and Functional Neurogenetics in the Departments of Human Genetics and Neurology at Leiden University Medical Center (LUMC) in the Netherlands.

Dr. van den Maagdenberg is a board member of the LUMC research team and the Consortium of Cluster Headache Genetics, vice-chair of the International Headache Genetics Consortium, and an honorary professor at Stichting Epilepsie Instellingen Nederland (SEIN).

Dr. van den Maagdenberg investigates the molecular and functional mechanisms of various paroxysmal brain disorders, focusing on migraine, epilepsy, and monogenic disorders such as RVCL-S and AHC. He is a leading expert in cortical spreading depolarization and conducts research using mouse models of multiple channelopathies.

Sho Yano, MD, Ph.D.

Sho Yano, MD PhD, is a physician-scientist working as an Assistant Professor in the Section of Neurology, Department of Pediatrics, University of Chicago. He is board-certified in child neurology, medical genetics, and pediatrics.

Dr. Yano’s clinical practice focuses on rare genetic diseases, particularly those that cause movement disorders or epilepsy. In the laboratory, he studies the genetic and molecular mechanisms of these neurogenetic diseases, with special focus on sodium-potassium ATPase genes.