Our Team
"First, we're intending to achieve a definitive genetic diagnosis for as many patients as possible. Most treatment strategies for neurologic disorders use genetic-based therapies requiring an exact genetic diagnosis. Our second goal is to create a team of clinicians, nurses, genetic counselors and clinical research staff that is devoted to clinical trials of novel gene and molecular therapies."
- Steven Scherer, MD, PhD
Director
-
Read More about Dr. Steven Scherer MD, PhDDr. Steven Scherer MD, PhD
Professor of Neurology, Inherited Neuropathies
Email Dr. Steven Scherer MD, PhD
215-349-8032
Dr. Steven Scherer MD, PhD
Professor of Neurology, Inherited Neuropathies
sscherer@pennmedicine.upenn.edu
215-349-8032
Finding the causes of neuropathy has been the focus of Dr. Scherer’s clinical and laboratory research for 40 years. This is a collaborative effort with patients as well as physicians and scientists from around the world. His current work includes defining the genetic basis and natural history of people with inherited neuropathies, preclinical investigations of animal models of inherited neuropathies, and helping launch clinical trials for inherited neuropathies. Leading the Penn Neurogenetics Therapy Center is the highlight of his work, and his 37 years at Penn.
Faculty
-
Read More about Defne Amado MD, PhDDefne Amado MD, PhD
Assistant Professor of Neurology, Motor Neuron Diseases & Neuropathy
Email Defne Amado MD, PhD
215-829-3053
Defne Amado MD, PhD
Assistant Professor of Neurology, Motor Neuron Diseases & Neuropathy
defne@pennmedicine.upenn.edu
215-829-3053
Defne Amado earned her MD and PhD at the University of Pennsylvania, completing her thesis work in retinal gene therapy with Dr. Jean Bennett. After Neurology residency, she completed a neuromuscular fellowship and two postdoctoral fellowships at Penn, the first with Dr. Alice Chen-Plotkin developing a gene replacement therapy for frontotemporal dementia, and the second with Dr. Beverly Davidson using gene knockdown approaches for gain-of-function neurodegenerative diseases. She currently sees patients with neuropathy with a particular focus on amyotrophic lateral sclerosis (ALS), and specializes in the development of gene therapy-based therapeutics for ALS, frontotemporal dementia, and spinocerebellar ataxia.
-
Read More about Samuel Carrell MD, PhDSamuel Carrell MD, PhD
Instructor of Neurology, Neuromuscular Dystrophy
Email Samuel Carrell MD, PhD
215-316-5151
Samuel Carrell MD, PhD
Instructor of Neurology, Neuromuscular Dystrophy
Samuel.Carrell@pennmedicine.upenn.edu
215-316-5151
Dr. Carrell is a physician-scientist with laboratory expertise in myotonic muscular dystrophy and experimental genetic therapeutics. He works on development and translation of novel viral-based genetic therapies and biomarkers.
-
Read More about Andres Deik MD, MSEd, FAANAndres Deik MD, MSEd, FAAN
Associate Professor of Clinical Neurology, Parkinson's Disease
Email Andres Deik MD, MSEd, FAAN
215-829-6500
Andres Deik MD, MSEd, FAAN
Associate Professor of Clinical Neurology, Parkinson's Disease
Andres.DeikAcostaMadiedo@pennmedicine.upenn.edu
215-829-6500
Dr. Andres Deik, MD, MSEd, FAAN completed his residency in Neurology and fellowship in Movement Disorders at Mount Sinai Beth Israel, in New York City. He is currently Associate Professor of Clinical Neurology and Program Director of the Movement Disorders fellowship program at the University of Pennsylvania. He is also Director of Experimental Therapeutics for Movement Disorders Center, and is both site and principal investigator for various clinical trials in movement disorders.
-
Read More about Colin Ellis MD
Colin Ellis MD
Assistant Professor of Neurology, Epilepsies
Colin.Ellis2@pennmedicine.upenn.edu
215-349-5166
Dr. Ellis's research is focused on the genetic basis of epilepsy. He is particularly interested in the discovery of genes that cause epilepsy; the heritability of epilepsy within families; and the use of genetics to improve the diagnosis and treatment of epilepsy. An additional research focus is the mining of electronic health records using natural language processing.
-
Read More about Lauren Elman MDLauren Elman MD
Professor of Neurology, Motor Neuron & Muscle Diseases
Email Lauren Elman MD
215-829-6708
Lauren Elman MD
Professor of Neurology, Motor Neuron & Muscle Diseases
Lauren.Elman@pennmedicine.upenn.edu
215-829-6708
Lauren Elman, MD is a Professor of Neurology at the Perelman School of Medicine. She graduated magna cum laude from Cornell University and received her medical degree from Cornell University Medical College. Neurology residency and neuromuscular fellowship were completed at the University of Pennsylvania. Her clinical practice is focused on the care of adults with neuromuscular disease, specifically those with amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA) and inherited disorders of muscle. She serves as the Director of the Muscular Dystrophy Association Center at Penn and Director of the Penn Comprehensive ALS Center. Research interests include clinical, pathological and genetic correlations as well as novel methods for disease quantification. Dr. Elman has co-authored more than 70 scientific papers and has been a coinvestigator on 16 neuromuscular clinical trials over the last ten years. She is most proud of the multiple teaching awards that she has received from medical students and residents at the University of Pennsylvania.
-
Read More about Ali Hamedani MD, MHSAli Hamedani MD, MHS
Assistant Professor of Neurology and Ophthalmology, Ataxias & Neuro-ophthalmology
Email Ali Hamedani MD, MHS
215-829-7775
Ali Hamedani MD, MHS
Assistant Professor of Neurology and Ophthalmology, Ataxias & Neuro-ophthalmology
Ali.Hamedani@pennmedicine.upenn.edu
215-829-7775
Dr. Hamedani is an Assistant Professor of Neurology and Ophthalmology at the University of Pennsylvania. As a neurologist trained in both neuro-ophthalmology and movement disorders, he directs the Penn Ataxia Center and also maintains a neuro-ophthalmology clinic that is focused on patients with visual symptoms due to neurodegenerative disease. He is the site principal investigator for several observational and interventional studies of symptomatic and disease-modifying treatment for spinocerebellar ataxia. He also holds a master's degree in epidemiology and conducts epidemiologic research related to visual impairment in aging and neurodegenerative disease.
-
Read More about David Irwin MDDavid Irwin MD
Assistant Professor of Neurology, Frontotemporal Dementia & Dementia with Lewy Bodies
Email David Irwin MD
215-573-6417
David Irwin MD
Assistant Professor of Neurology, Frontotemporal Dementia & Dementia with Lewy Bodies
dirwin@pennmedicine.upenn.edu
215-573-6417
Dr. David Irwin directs the Penn Frontotemporal Degeneration Center at the University of Pennsylvania Perelman School of Medicine and is the PI of the Penn Digital Neuropathology Lab. He has dual training in cognitive neurology and neuropathology and his lab focuses on integrating human brain histopathology and molecular techniques with imaging methods to discover therapeutic targets and develop tissue-sensitive biomarkers to facilitate clinical trials for emerging therapies for FTD, LBD, AD and related disorders.
-
Read More about Chafic Karam MDChafic Karam MD
Associate Professor of Clinical Neurology, Neuropathies
Email Chafic Karam MD
215-906-1939
Chafic Karam MD
Associate Professor of Clinical Neurology, Neuropathies
Chafic.Karam@Pennmedicine.upenn.edu
215-906-1939
Dr. Chafic Karam has expertise in the diagnosis and management of patients with peripheral neuropathy. He is currently focusing his research on hereditary neuropathy related to amyloidosis.
-
Read More about Aaron Lasker MDAaron Lasker MD
Assistant Professor of Clinical Neurology, Huntington’s Disease
Email Aaron Lasker MD
215-829-6500
Aaron Lasker MD
Assistant Professor of Clinical Neurology, Huntington’s Disease
Aaron.Lasker@Pennmedicine.upenn.edu
215-829-6500
Dr. Aaron Lasker is an assistant professor of Neurology at the University of Pennsylvania in the Parkinson’s Disease and Movement Disorders Center and director of the Penn Huntington’s disease Center of Excellence. He specializes in the treatment of Huntington’s disease, Parkinson’s disease and related disorders. He has a special interest in the non-motor symptoms of movement disorder and the incorporation of palliative care into the routine clinical care of patients living with neurologic disease. He is involved with multiple clinical trials for Huntington’s disease.
-
Read More about Paul McIntosh MDPaul McIntosh MD
Assistant Professor of Clinical Neurology, Neuromuscular
Email Paul McIntosh MD
215-662-3397
Paul McIntosh MD
Assistant Professor of Clinical Neurology, Neuromuscular
Paul.Mcintosh@Pennmedicine.upenn.edu
215-662-3397
Dr. Paul McIntosh completed his neurology residency training at Duke University Medical Center and a fellowship in neuromuscular neurology at Mass General Brigham. His focus within neurogenetics is on genetic myopathies.
-
Read More about Jennifer Orthmann-Murphy MD, PhDJennifer Orthmann-Murphy MD, PhD
Assistant Professor of Neurology, Adult-onset Leukodystrophies
Email Jennifer Orthmann-Murphy MD, PhD
215-662-3606
Jennifer Orthmann-Murphy MD, PhD
Assistant Professor of Neurology, Adult-onset Leukodystrophies
Jennifer.Orthmann-Murphy@pennmedicine.upenn.edu
215-662-3606
Dr. Orthmann-Murphy completed an MD-PhD program and neurology residency at Penn, and a combined postdoctoral and clinical neuroimmunology fellowship at Johns Hopkins University. She started her translational research program at Penn to study the role of glial cells in inherited and acquired myelin disorders. She leads an ‘Undiagnosed White Matter Disorders’ neurogenetics clinic and also cares for people with multiple sclerosis. She is co-director of the Age Span Fellowship in Multiple Sclerosis and Neuroinflammatory disorders.
-
Read More about Colin Quinn MDColin Quinn MD
Associate Professor of Clinical Neurology, Motor Neuron & Muscle Diseases
Email Colin Quinn MD
215-662-2625
Colin Quinn MD
Associate Professor of Clinical Neurology, Motor Neuron & Muscle Diseases
Colin.Quinn2@pennmedicine.upenn.edu
215-662-2625
Dr. Quinn is a neuromuscular neurologist with a research focus in clinical trials. Currently he is the director of the Philadelphia VA ALS multidisciplinary clinic, associate director of the University of Pennsylvania MDA clinic and the director of neuromuscular clinical trials for the University of Pennsylvania.
-
Read More about Thomas Tropea DO, MPH, MSTRThomas Tropea DO, MPH, MSTR
Professor of Neurology, Movement Disorders
Email Thomas Tropea DO, MPH, MSTR
215-829-6500
Thomas Tropea DO, MPH, MSTR
Professor of Neurology, Movement Disorders
Thomas.Tropea@pennmedicine.upenn.edu
215-829-6500
Dr. Thomas F Tropea is a neurologist and movement disorders specialist. He trained at NY Presbyterian Hospital-Weill Cornell Medical College, Memorial Sloan-Kettering, and the University of Pennsylvania. He studies biomarkers and genetics in Parkinson’s disease focusing on understanding common risks among neurodegenerative diseases and optimizing disclosure of genetic results.
Genetic Counselors
-
Read More about Meron Azage MS, CGC
Meron Azage MS, CGC
215-829-6500
Meron Azage, MS, CGC is the Associate Director of Genetic Counseling in the Department of Neurology. She provides genetic counseling services to patients with hereditary ataxia and Huntington’s disease. She is involved in various genetic counselor lead research projects through the Penn Neurogenetics Therapy Center. Meron received her Master’s in Medical Genetics from the University of Cincinnati in 2012 and was certified by the American Board of Genetic Counseling in 2013.
-
Read More about Aaron Baldwin MS, LCGC
Aaron Baldwin MS, LCGC
215-829-6500
Aaron Baldwin MS, LCGC is a staff genetic counselor in the Department of Neurology at The University of Pennsylvania, providing patient services in both the epilepsy and leukodystrophy clinics. Additionally, his role includes working towards research-based opportunities and studies with a focus on reducing healthcare disparities. Before starting this role, Aaron worked at GeneDx, a genetic diagnostic laboratory, as both a lab lead and later a genetic counseling assistant with the neurology team. He completed his genetic counseling training at both Augustana University in Sioux Falls, South Dakota and The University of California – San Diego in San Diego, California. His focus points include identification of genetic causes of different neurological disorders along as well as careful examination of the impact that racial and ethnic background can have on medical outcomes for underrepresented minority populations in the United States.
-
Read More about Laynie Dratch ScM, CGC
Laynie Dratch ScM, CGC
215-829-6500
Laynie Dratch, ScM, CGC is a genetic counselor in adult neurology at the University of Pennsylvania in Philadelphia, PA. Her clinical focus includes frontotemporal degeneration (FTD) spectrum disorders, amyotrophic lateral sclerosis (ALS), and other neurodegenerative conditions. Her research interests include the lived experiences of at-risk individuals, predictive genetic testing considerations, and genetic counseling access and service delivery. Laynie graduated summa cum laude from Colgate University with a BA in neuroscience and a minor in psychology, and completed her genetic counseling masters training at the Johns Hopkins University and the National Institutes of Health.
-
Read More about Kelsey Johnson MS, CGC
Kelsey Johnson MS, CGC
215-829-6500
Kelsey Johnson, MS, CGC, is a genetic counselor in the neurology department at the University of Pennsylvania. She sees patients with various neurologic indications including neuromuscular disorders (neuropathies, myopathies, muscular dystrophies) and neurogenerative disorders. She graduated from Mercyhurst University with a BS in general biology with a focus on public health and completed her master’s degree in human genetics at Sarah Lawrence College.
-
Read More about Rachel Paul MS, CGC
Rachel Paul MS, CGC
215-829-6500
Rachel A. Paul, MS, CGC is a board-certified genetic counselor working with research and clinical teams across Penn Neurology, including the Molecular Integration in Neurologic Diagnosis (MIND) Initiative, the Parkinson’s Disease and Movement Disorders Center, & the Neurogenetics Therapy Center. She provides genetic counseling to patients & research participants with a personal and/or family history of Parkinson’s disease, dystonia, other movement disorders, and other neurologic conditions. Her research interests include development of novel, scalable service delivery and education tools; return of negative results; genetic counseling for variants with incomplete penetrance; and incidental findings of variants associated with an increased risk for adult-onset neurologic disease. Rachel graduated from Temple University in Philadelphia, previously worked as the administrative assistant for Penn’s neurology genetic counselors, and completed her training with the Arcadia University (now University of Pennsylvania) Genetic Counseling Program.
Clinical Research Staff
-
Read More about Juliette Copeland
Juliette Copeland
Clinical Research Assistant
juliette.copeland@pennmedicine.upenn.edu
215-662-3158
Juliette graduated from the University of Richmond in May of 2022 with a B.S. in Biochemistry & Molecular Biology and a minor in Leadership Studies. During college, she worked with patients with intellectual disorders, movement disorders, and terminal illnesses while interning for Penn Medicine Hospice. She also has undergraduate research experience with related disorders, as she studied the uses of natural products to prevent neurodegeneration. At the Penn Neurogenetics Therapy Center, she assists the Clinical Research team with conducting gene therapy trials, and she also assists Dr. Colin Ellis with his research on familial epilepsy. She is on the pre-medical track, and someday hopes to become a physician with an emphasis on treating neurological conditions.
-
Read More about Debbra Grier BSN, RN, MBA, CCRPDebbra Grier BSN, RN, MBA, CCRP
Senior Clinical Research Nurse
Email Debbra Grier BSN, RN, MBA, CCRP
215-662-4079
Debbra Grier BSN, RN, MBA, CCRP
Senior Clinical Research Nurse
grier@pennmedicine.upenn.edu
215-662-4079
Debbie has been a registered nurse for almost 40 years with 16+ years in clinical research. She received her BSN from the Health Sciences Center at Downstate in Brooklyn, NY and her MBA at LaSalle University in Philadelphia, PA. She holds a certification as a certified clinical research professional from SOCRA. Her past clinical nursing experiences include pediatrics, med-surg., hematology-oncology, home care, home infusion, nursing instruction of ASN students, and social services. She has been working at UPenn since 2006 and joined the TCE group in March 2022 after 16 years in Nephrology. Her current studies include Parkinson’s Disease, ALS, and Spinocerebellar Ataxia.
-
Read More about Joelle Williamson
Joelle Williamson
Project Manager
Joelle.Williamson1@Pennmedicine.upenn.edu
215-614-0349
Joelle received her Bachelors of Science from Messiah University and is currently pursuing her Masters of Public Health. She has been involved in research since 2018, with her first research experience focused on cardiology. She joined the University of Pennsylvania research staff in 2020, leading studies in oncology, hematology, and infectious disease. As a project manager in Penn Neurogenetics, Joelle oversees early phase clinical trials for neurological disorders and works alongside principal investigators and medical companies.
Administration
-
Read More about Sara-Claude Michon PhD
Sara-Claude Michon PhD
Director of Operations
Sara-Claude.Michon@pennmedicine.upenn.edu
215-614-0027
Sara-Claude earned her PhD in Neuroscience in 2013 and has over 10 years of experience with clinical research for neurodegenerative disorders. Since joining Penn in 2018, she specialized in the operationalization and management of early phase clinical trials for neurological disorders. In her role, she collaborates with Penn investigators and biomedical companies, and leverages Penn resources to deliver early phase clinical trials of novel genetic-based therapies to patients with neurological disorders.
-
Read More about Edward Yuhasz
Edward Yuhasz
Finance and Administration Specialist
Edward.Yuhasz@Pennmedicine.upenn.edu
215-662-4084
Edward holds a B.S. in Business Administration from the University of Pittsburgh. He joined the Penn Neurogenetics Therapy Center in May of 2022 as the Finance and Administration Specialist for the center. Edward primarily assists with trial activation, procurement, and financial tracking for the center.