Our Team

PNTC Director

James J. Dowling, MD, PhD Univeristy of Pennsylvania

Professor of Neurology and Genetics

Dr. Jim Dowling is a clinician-scientist focused on gene discovery and therapy development for neurogenetic and neuromuscular diseases across the lifespan. He is currently a Professor of Genetics and Neurology at the University of Pennsylvania and Director of the PNTC. He is also a staff clinician and scientist at the Children's Hospital of Philadelphia. He joins the PNTC from the University of Toronto and the Hospital for Sick Children, where he was a staff clinician, senior scientist, and Mogford Campbell Family Chair of Paediatric Neuroscience.

Dr. Dowling received his BSc and MSc from Yale University and his MD/PhD from the University of Chicago. He did his residency in child neurology at Children’s Hospital of Philadelphia and completed postdoctoral research at the University of Pennsylvania and the University of Michigan.

In addition to his clinical and research programs, he has held several leadership positions, with TREAT NMD, World Muscle Society, the Canadian Pediatric Neuromuscular Group, and the Ontario Provincial Genetics Program. He continues to serve on several advisory boards in academia, non-for-profit groups, and industry including the US Muscular Dystrophy Association and the RYR1 Foundation.

PNTC Leadership

Dr. Quinn is a neuromuscular neurologist focused on excellence in clinical care and clinical trials.

He is the Director of both the Penn Comprehensive ALS Center and the CMJC VA Interdisciplinary ALS Clinic. He is also the Director of Neuromuscular Clinical Trials at the University of Pennsylvania.

Colin Quinn, MD PNTC Clinical Research Lead Associate Professor of Clinical Neurology Division of Neuromuscular Disorders

Dr. Ellis studies the genetic basis of epilepsy, aiming to find causal genes, understand heritability, and improve diagnosis and treatment.

He also uses natural language processing to analyze electronic health records.

Colin Ellis, MD PNTC Education Lead Assistant Professor of Neurology Division of Epilepsy

Dr. Amado develops gene therapies for ALS, FTD, and ataxia. She trained at Penn in neurology and neuromuscular medicine and sees patients with neuropathy, focusing on ALS.

Her research includes gene replacement and knockdown approaches for neurodegenerative diseases.

Defne Amado, MD, PhD PNTC Translational Research Lead Assistant Professor of Neurology Division of Neuromuscular Disorders

Dr. Elman is a Professor of Neurology, specializing in SMA and inherited muscle disorders. She is the director of MDA Center and has been at the forefront of clinical trials in the adult inherited neuromuscular space.

Her interests are in early phase clinical trials and launching novel therapeutics.

Lauren Elman, MD PNTC Clinical Implementation Lead Professor of Neurology Division of Neuromuscular Disorders

PNTC Strategy & Operations

Kimberly recently joined the PNTC from the Hospital for Sick Children.

In her current role, she is supporting the development of the Precision Genetic Medicine strategy, leveraging her expertise in genetic counseling, therapeutic development, and program management.

Kimberly Amburgey, MS, CGC Director of Strategy

Sara-Claude has extensive experience implementing clinical trials for neurological diseases in academia.

She operationalizes early-phase trials of neurogenetic therapies and supports strategic advancement of PNTC initiatives.

Sara-Claude Michon, PhD Director of Operations

PNTC Administration & Marketing

Edward supports trial activation, procurement, and financial planning to help ensure smooth operations at the PNTC.

He joined the center in 2022 and has over 7 years of business management experience.

Edward Yuhasz, BS Business Manager

As the Admin and Marketing Coordinator at PNTC, Gunnarson supports daily operations and marketing initiatives, including social media, brand management, and content development.

He holds a B.A. in Communications from Shippensburg University and began his marketing career in the legal industry.

Gunnarson Miller, BA Administrative and Marketing Coordinator

PNTC Genetic Counselors

Aaron Baldwin is a genetic counselor at Penn Neurology, supporting epilepsy and leukodystrophy clinics. He focuses on genetic causes of neurological disorders and reducing healthcare disparities.

Previously, he worked at GeneDx and trained at Augustana University and UC San Diego.

Aaron Baldwin, MS, CGC Leukodystrophies, Epilepsies

Kelsey Johnson is a genetic counselor at Penn Neurology, treating patients with neuromuscular and neurodegenerative disorders.

She holds a BS in biology from Mercyhurst University and a master’s in human genetics from Sarah Lawrence College.

Kelsey Johnson, MS, CGC Neuromuscular Disorders

Laynie Dratch is a genetic counselor at Penn Neurology, specializing in FTD, ALS, and neurodegenerative disorders. Her research explores at-risk individuals’ experiences, and access to genetics care.

She holds a BA from Colgate University and completed her master’s training at Johns Hopkins and NIH.

Laynie Dratch, MS, CGC Amyotrophic Lateral Sclerosis, Frontotemporal Dementia

Rachel Paul is a genetic counselor specializing in neurologic movement disorders.

Her research focuses on telemedicine in genetic counseling, motivations for genetic testing, and genetic screening for clinical trials. She completed her education and training in the Philadelphia area.

Rachel Paul, MS, CGC Movement Disorders

PNTC Clinical Research Team

At the PNTC, Abigail manages early-phase clinical trials of neurogenetic therapies, drawing on experience that began in 2017 supporting childhood autism research and later expanded to trials for neurological disorders.

She is also pursuing a graduate degree in mental health counseling.

Abigail Browngoehl, MPH Clinical Research Project Manager

As a Research PM at PNTC, she is managing an LRRK2 PD platform trial.

Kamnaa holds an MS in Biomedical Engineering and has over ten years of experience in clinical research, medical device development, and regulatory affairs.

Kamnaa Arya, MS Clinical Research Project Manager

Kristin is a Project Manager within PNTC who supports clinical trials involving neurogenetic therapies.

Her previous research experience involved pediatric orthopedics, mitochondrial disease, and pediatric mental health

Kristin Brown, MS Clinical Research Project Manager

Alex supports clinical trials for neurodegenerative disorders at the PNTC and assists with the development of a precision medicine platform, building on his undergraduate research at Duke, where he created mathematical models to address biological questions.

Alex Diefes, BS, BA Clinical Research Coordinator

Amanda coordinates PNTC early-phase trials for neurological diseases, building on her passion for clinical research sparked while at Penn State and her early experience as a Research Specialist for the Immune Health Project during COVID-19.

Amanda Hicks, BS Clinical Research Coordinator

Ive coordinates first-in-human, early-phase trials for neurogenetic disorders at Penn.

He brings an investigative mindset, strong organizational skills, and program development experience shaped by bioethics research, clinical roles, and teaching assignments at Penn and University of Louisville.

Ive Muse, MA Clinical Research Coordinator

Kriya coordinates gene therapy trials for neurodegenerative disorders at the PNTC, building on her experience leading meta-analyses and shaping community health policies, including work with the EPA on environmental justice and geospatial epidemiology.

Kriya Shah, MPH Clinical Research Coordinator

Spriha coordinates early-phase trials of genetic therapies for neurological diseases, leveraging her prior experience in molecular biology and clinical research from Johns Hopkins, where she performed CRISPR experiments, managed complex data sets, and supported pediatric studies.

Spriha Thapa, MS Clinical Research Coordinator

As a Research Assistant at the PNTC Hannah supports clinical neurogenetics studies and gene-targeted therapy initiatives.

She earned a B.S. in Biology from UNC Chapel Hill and began working in human genetics through clinical epilepsy research, developing a strong interest in rare neurologic disease.

Hannah Shalaby, BS Clinical Research Assistant

Mahnoor earned a BS in Neuroscience and an MS in Biomedical Sciences.

As an undergraduate, she researched chronic stress mechanisms and gene regulation in rodent models of major depressive disorder. She now supports all clinical trials at PNTC.

Mahnoor Siddiqui, BS, MS Clinical Research Assistant

PNTC Investigators

Dr. Lasker is an Associate Professor of Neurology at Penn and directs the Huntington’s Disease Center of Excellence.

He specializes in Huntington’s and Parkinson’s disease, with a focus on non-motor symptoms, palliative care, and clinical trials for Huntington’s disease.

Aaron Lasker, MD Associate Professor of Clinical Neurology Division of Movement Disorders

Aaron Rothstein, MD, MS, is an Assistant Professor of Neurology at Penn and a vascular neurologist whose research focuses on stroke recovery, cerebrovascular disease, and clinical trials to improve outcomes after stroke.

Aaron Rothstein, MD, MS Assistant Professor of Neurology Division of Vascular Neurology

Dr. Hamedani is a neurologist at Penn specializing in neuro-ophthalmology and movement disorders.

He directs the Penn Ataxia Center and sees patients with spinocerebellar ataxia and inherited optic neuropathies. His research focuses on visual impairment in aging and neurodegenerative disease.

Ali Hamedani, MD, MHS Assistant Professor of Neurology, Neurology in Ophthalmology, and Epidemiology Division of Neuro-Ophthalmology

Dr. Deik is Associate Professor of Neurology and directs the Movement Disorders Fellowship at Penn.

He leads experimental therapeutics and serves as site and principal investigator for multiple clinical trials in movement disorders.

Andres Deik, MD, MSEd, FAAN Associate Professor of Clinical Neurology Division of Movement Disorders

Dr. Siderowf is Chief of Movement Disorders at Penn and Chair of the Parkinson Study Group.

Trained at Duke, Penn, and Rochester, he specializes in Parkinson’s diagnosis and management. His research focuses on clinical trial design and using biomarkers as outcome measures.

Andrew Siderowf, MD, MS Professor of Neurology Division of Movement Disorders

Dr. Karam is a Professor of Clinical Neurology and chief of the Neuromuscular Division with expertise in diagnosing and managing peripheral neuropathy.

He is currently focused on research into hereditary neuropathy caused by amyloidosis.

Chafic Karam, MD Professor of Clinical Neurology Division of Neuromuscular Disorders

Dr. Irwin directs the Penn FTD Center and Digital Neuropathology Lab.

His work combines brain pathology, molecular tools, and imaging to discover targets and biomarkers that support clinical trials for FTD, LBD, Alzheimer's, and related disorders.

David Irwin, MD Associate Professor of Neurology Division of Cognitive Neurology

Dr. Orthmann-Murphy completed an MD-PhD and neurology residency at Penn, and neuroimmunology fellowship at Hopkins.

She studies glial cells in myelin disorders, leads an Undiagnosed White Matter Disorders clinic, treats MS patients, and co-directs the Age Span MS Fellowship.

Jennifer Orthmann-Murphy MD, PhD Assistant Professor of Neurology Division of Multiple Sclerosis

Dr. Baer is a neuromuscular neurologist and Associate Director of the Penn ALS Center.

He treats a wide range of neuromuscular disorders and is involved in clinical trials focused on disease-modifying therapies for ALS.

Michael Baer, MD, BME Assistant Professor of Clinical Neurology Division of Neuromuscular Disorders

Michael Gelfand, MD, PhD completed residency in Neurology and fellowship in Epilepsy at the University of Pennsylvania. He is Associate Professor of Clinical Neurology and Director of Clinical Trials for the Penn Epilepsy Center.

Michael Gelfand, MD, PhD Associate Professor of Neurology Division of Epilepsy

Dr.Guo is a cognitive neurologist and geneticist here at Penn. His lab uses genetics to uncover disease mechanisms and identify therapeutic targets for Alzheimer’s disease.

Within the PNTC, he applies genetic and genomics methods to improve the diagnostic process for patients with rare neurologic di

Michael Guo, MD Assistant Professor of Neurology Division of Cognitive Neurology

Dr. McIntosh completed neurology residency at Duke and a neuromuscular fellowship at Mass General Brigham.

His neurogenetics research focuses on genetic myopathies, aiming to advance understanding, diagnosis, and treatment of inherited muscle diseases.

Paul McIntosh, MD Assistant Professor of Clinical Neurology Division of Neuromuscular Disorders

Dr. Scherer has spent 40 years researching neuropathy causes, collaborating globally with patients, physicians, and scientists.

His work includes studying the genetics and natural history of inherited neuropathies, animal models, and supporting clinical trials for these disorders.

Steve Scherer, MD, PhD Emeritus Professor of Neurology Division of Neuromuscular Disorders

CHOP Collaborators

Brianna Gross is a genetic counselor at the Children’s Hospital of Philadelphia specializing in nerve and muscle disorders.

She is passionate about clear, compassionate communication and empowering families through understanding. She also serves on the Executive Board of CureSMA.

Children's Hospital of Philadelphia

Brianna Gross, MS, CGC

Dr. Marsh earned his MD at NYU School of Medicine and PhD in physiology/neuroscience at NYU Sackler.

After pediatric and neurology training at NYU and CHOP, he joined Penn as Professor of Neurology and Pediatrics. His work focuses on developmental epilepsies, cortical malformations, and related gene