2020 LBSL Conference: “Connection, Collaboration, Cures”


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Jose Abdenur, MD
Medical Director, Pediatric Metabolic Disorders
Children’s Hospital of Orange County
Dr. Abdenur is Division Chief of Metabolic Disorders and Director of the Metabolic Laboratory at CHOC Children’s in Orange, California, USA. He is Associate Clinical Professor of Pediatrics at the University of California, Irvine and Program/ Training Director for Medical Biochemical / Clinical Biochemical Genetics for the UCLA Intercampus Medical Genetics Training Program. He is past president of the Latin American Society for Inborn Errors of Metabolism and Newborn Screening (SLEIMPN).

Dr. Abdenur received his medical degree at the Universidad de Buenos Aires, Argentina. He trained in pediatrics at Hospital Pedro de Elizalde in Argentina; in pediatric endocrinology at North Shore Hospital, Cornell University, NY; in Biochemical Genetics at the University of Colorado, Denver and in Clinical Genetics at Mount Sinai School of Medicine, NY.

His areas of interest are Diagnosis and Treatment of Inborn Errors of Metabolism with special interest in small molecules and mitochondrial diseases.
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Julie Cohen, ScM
Genetic Counselor
Kennedy Krieger Institute
Julie is a senior genetic counselor at the Kennedy Krieger Institute and holds a faculty appointment as Assistant Professor of Neurology at Johns Hopkins University School of Medicine. She has over 10 years’ experience and specializes in neurogenetics, developmental disabilities, and clinical genomics. Julie is the genetic counselor for the Moser Center for Leukodystrophies at Kennedy Krieger. She is passionate about caring for patients and families affected by genetic white matter diseases.
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Florian Eichler, MD
Director, Center for Rare Neurological Diseases
Massachusetts General Hospital
Florian Eichler received his medical degree from the University of Vienna Medical School. After graduating from medical school in 1997, he entered residency in pediatrics and pursued studies on cerebral blood flow and metabolism at the University of Vienna. In 1999 he won a scholarship to study in vivo MR spectroscopy in pediatric patients with metabolic and neurometabolic conditions at Johns Hopkins (Stipendium Metabolicum 1999) and joined the laboratory of Dr. Hugo Moser dedicated to peroxisomal disorders at the Kennedy Krieger Institute. Following his research fellowship at Johns Hopkins School of Medicine he underwent residency training in child neurology at the Massachusetts General Hospital (MGH). After completing residency in 2005 he joined the staff at MGH.

Now an associate professor of neurology at Harvard Medical School, he is extending his research into animal models of neurodegenerative disorders. His research focus is on the genetics of peroxisomal disorders, lipid metabolism and spatial aspects of nuclear magnetic resonance spectroscopy. As director of the leukodystrophy clinic at the Massachusetts General Hospital, he sees patients with a variety of white matter disorders. He currently holds several NIH awards funding studies to analyze metabolic changes seen in the brain by MR measures and to determine the neurotoxicity of newly discovered atypical sphingolipids.
Ali Fatemi, MD, MBA
Director, Moser Center for Leukodystrophies
Kennedy Krieger Institute
S. Ali Fatemi, MD, is the Chief Medical Officer at Kennedy Krieger Institute, a pediatric neurologist and the director of the Division of Neurogenetics and the Moser Center for Leukodystrophies, and an investigator at the Hugo W. Moser Research Institute at Kennedy Krieger Institute. Dr. Fatemi is also an associate professor of neurology and pediatrics at Johns Hopkins University.

Dr. Fatemi received his medical degree from the Medical University of Vienna, Austria in 1999. After graduation, he served as a researcher and lecturer at the Institute for Medical Chemistry in Vienna and completed an internship in pediatrics at the Vienna General Hospital. He was recruited by Dr. Hugo W. Moser as a post-doctoral fellow in neurogenetics and neuroimaging research at Kennedy Krieger Institute in 2001. During this initial period at Kennedy Krieger Institute, Dr. Fatemi collaborated with a team of scientists to develop new imaging methods in patients with leukodystrophies, a group of rare genetic diseases that affect the brain's white matter and coordinated an internet-2 based imaging network for these diseases. He left Kennedy Krieger Institute to train in general pediatrics and completed a child neurology residency at the Massachusetts General Hospital, an affiliate of Harvard Medical School. Dr. Fatemi returned to the Kennedy Krieger Institute in 2008 as a faculty member and founded the Moser Center for Leukodystrophies in 2013.

He is a member of the Child Neurology Society, the International Child Neurology Association, the Society for Neuroscience, the American Academy of Neurology and the American Society of Neurochemistry. He has served as an ad hoc reviewer for numerous scientific journals and grant study sections. He also serves as a member of the Scientific Advisory Board of the United Leukodystrophy Foundation, the Board of Directors of ALDConnect, a non-profit international consortium, and as a member of Drug Safety and Monitoring Board (DSMB) of several clinical trials.

At the Kennedy Krieger outpatient center, Dr. Fatemi evaluates children with a variety of neurologic problems. His greatest interest is in genetic and acquired conditions that affect the brain's white matter and in genetic causes of neurodevelopmental disabilities.
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Amena Smith Fine, MD, MBA
Assistant Professor, Neurology and Developmental Medicine, Moser Center for Leukodystrophies
Kennedy Krieger Institute
I pursued neurodevelopmental disabilities because this field combines all of my academic interests including developmental pediatrics, neurology and behavioral psychology. I also love that I’ll have the flexibility during training to continue translational research in neuroscience and neurodevelopment. I have always enjoyed working with children and families and collaborating with providers on a multi-disciplinary team to create holistic care plans for my patients. I chose NDD over pediatric neurology because overall I hope to serve in a primary care and advocacy role for children with disabilities rather than serve as an expert focusing only on the neurologic aspect of care.
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Stephen Fried, PhD
Assistant Professor, Department of Chemistry
Johns Hopkins University
Stephen Fried is a native of Kansas City. He received two bachelor of science degrees from MIT in chemistry and physics in 2009 and completed his doctoral training at Stanford under the mentorship of Prof. S. G. Boxer in 2014. As a graduate student, Stephen's research focused on understanding the physical principles underpinning enzymes’ great catalytic power. From 2014 to 2018, Stephen was a Junior Research Fellow of King’s College and conducted research at the MRC Laboratory of Molecular Biology in Cambridge, United Kingdom. In Cambridge, Stephen’s research focus shifted to chemical and synthetic biology. His post-doctoral work led to the co-invention of the stapled ribosome, the discovery of many new orthogonal tRNA-synthetase pairs for genetic code expansion, and the first systematic investigation of tRNA decoding patterns in vivo. Stephen joined the Department of Chemistry in 2018 as an assistant professor at Johns Hopkins University.
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Chris Joseph, MS, PT
Director of Physical Therapy
Kennedy Krieger Institute
Chris is manages the physical therapy pediatric rehabilitation team for inpatient, outpatient and day treatment with early intervention and school-based services.
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Leslie Marsiglia
Director of Individual Giving, Office of Philanthropy
Kennedy Krieger Institute
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Beth Frigola McGinn
Co-Founder, Executive Director
"A Cure for Ellie"
Since 2013, Beth has served as executive director of "A Cure for Ellie," a non-profit organization named for her 12-year old daughter who was diagnosed with LBSL at age three. The foundation also helps newly-diagnosed families by providing information about the disease, access to resources and emotional support.

McGinn has more than 15 years of communications, public affairs and legislative policy experience. Prior to starting "A Cure for Ellie," with her husband, she worked on Capitol Hill as a communications director and spokesperson for several members of the U.S. House of Representatives and the House Judiciary Committee. She served four years as director of public affairs at the American Road and Transportation Builders Association in Washington, DC and later provided media and communications strategy to College Steps, a nonprofit that offers customized support for students with learning and social challenges such as autism and executive functioning deficits. A resident of Arlington, Va., McGinn has a bachelor's degree in political science from Rollins College, Fla.
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Michael McGinn
"A Cure for Ellie"
Michael is a co-founder and director of "A Cure for Ellie", a non-profit dedicated to supporting families with rare brain conditions, and supporting research in leukodystrophies, specifically LBSL. He leads most of the financial efforts for the foundation and assists his wife, Beth, with patient family support.

Michael is a strategy consultant in Booz Allen's Strategic Innovation Group where he is currently helping to launch and grow their products business. He has spent most of his career in consulting, supporting federal financial and security agencies in fulfilling their missions.

He is a graduate of Michigan State University and lives with Beth and their two daughters in Arlington, VA.
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Christina Nemeth Mertz, PhD
Research Associate, Moser Center for Leukodystrophies
Kennedy Krieger Institute
Dr. Christina Nemeth Mertz received her bachelor of arts in Neuroscience from Hamilton College in 2006 and her PhD in Neuroscience from Emory University in 2014. Dr. Nemeth Mertz completed her postdoctoral training here the Kennedy Krieger Institute and Johns Hopkins University in 2018 and remained as part of the team at the Moser Center for Leukodystrophies investigating mechanisms and therapies for genetic white matter disorders. Specifically, she focuses on animal and cell models of genetic and acquired leukodystrophies and works closely with the Johns Hopkins Center for Nanomedicine studying the application and efficacy of novel nanotherapeutics.
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Valerie Paasch, PhD
Psychologist, Pediatric Psychology Clinic
Kennedy Krieger Institute
Dr. Valerie Paasch is a licensed psychologist with the Pediatric Psychology Program in the Department of Behavioral Psychology, the director of Postdoctoral Fellowship Training in the Department of Behavioral Psychology and the director of Behavioral Sleep Services in the Sleep Disorder Clinic at Kennedy Krieger Institute. Dr. Paasch is also an assistant professor in the Department of Psychiatry and Behavioral Sciences at the Johns Hopkins University School of Medicine.

Dr. Paasch received her doctorate in clinical psychology with specialization in child clinical psychology from Louisiana State University. She completed her internship and two years of post-doctoral fellowship in pediatric psychology at Kennedy Krieger Institute and the Johns Hopkins University School of Medicine. Dr. Paasch is a licensed psychologist in the state of Maryland, and provides training and supervision to pre-doctoral interns and post-doctoral fellows in pediatric psychology. She is a professional member of the Society for Pediatric Psychology and the American Psychological Association (APA) Division of Rehabilitation Psychology.
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Hilary Vernon, MD, PhD
Director of the Metabolism Clinic and Barth Syndrome Clinic
Kennedy Krieger Institute
Hilary Vernon, MD, PhD is a biochemical geneticist and an associate professor of Genetic Medicine at Johns Hopkins Hospital. She is the director of the Barth Syndrome Interdisciplinary Clinic at the Kennedy Krieger Institute and directs the Mitochondrial Medicine Center at Johns Hopkins Hospital and Kennedy Krieger Institute. Her research is focused on understanding mitochondrial metabolism in cellular models of mitochondrial disorders.
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Laura Hatcher
Little Lobbyists
Laura is Simon’s mom and the Director of Communications for Little Lobbyists.
Laura believes that, regardless of health or ability, all people have the right to life, liberty, and the pursuit of happiness. She also believes that every person has gifts to share, celebrate, and use to make our world more beautiful.

Laura is a graphic designer, small business owner, and adjunct professor. She believes in the power of great design for great organizations and specializes in communication for education, health care, and the arts. She loves being in the classroom helping creative people turn their passion into their profession.

When she isn’t creating or teaching design, Laura works toward making the world a more beautiful place by volunteering on various board committees that support arts in education and the inclusion and celebration of people with disabilities. She loves being a mom to both her amazing kids, does a lot of yoga, bakes impressive cakes, and really appreciates a nice manicure.