Meet Our Team

Erika Augustine, MD, MS

Kennedy Krieger Institute

Baltimore, MD

Principal Investigator

Expertise: Neuronal ceroid lipofuscinoses (NCLs), clinical trial design and operations

Elizabeth Berry-Kravis, MD, PhD

Rush University Medical Center

Chicago, IL

Principal Investigator

Expertise: Fragile X syndrome, Angelman syndrome, Rett syndrome, Phelan-McDermid syndrome, Niemann-Pick type C, Batten disease, clinical trials, neurodevelopmental disorders, N-of-1 trials

An N. Dang Do, MD, PhD

Eunice Kennedy Shriver National Institute of Child Health and Human Development

Bethesda, MD

Principal Investigator

Expertise: Cellular stress in development and diseases

Saima Kayani, MD

UT Southwestern Medical Center

Dallas, TX

Principal Investigator

Expertise: Clinical and basic molecular mechanisms of neurogenetic diseases

Christelle Moufawad El Achkar, MD

Boston Children's Hospital

Boston, MA

Principal Investigator

Expertise: Neurogenetics, precision medicine, epilepsy

Kourtney Santucci, MD

Children's Hospital Colorado

Aurora, CO

Principal Investigator

Expertise: Complex illnesses of childhood, primary immunodeficiencies

Yael Shiloh-Malawsky, MD

The University of North Carolina at Chapel Hill

Chapel Hill, NC

Principal Investigator

Expertise: Pediatric neurology, epilepsy, neurogenetics, gene-based therapeutics  

Christina Sloan-Heggen, MD, PhD

University of Michigan Health

Ann Arbor, MI

Principal Investigator

Expertise: Pediatric genetics, biochemical genetics, lysosomal storage disease

Liu Lin Thio, MD

Washington University St. Louis

St. Louis, MO

Principal Investigator

Expertise: Child neurology, pediatric epilepsy, EEG, ketogenic diet 

Jennifer Vermilion, MD

University of Rochester Medicine

Rochester, NY

Principal Investigator

Expertise: Batten diseases, Tourette syndrome

Raymond Wang, MD

Children's Hospital of Orange County

Orange, CA

Principal Investigator

Expertise: Mucopolysaccharidosis, lysosomal storage disorders, CLN2 / Batten disease

Jill Weimer, PhD

Sanford Health

Sioux Falls, SD

Principal Investigator

Expertise: Rare neuropediatric diseases and neurodevelopment

Michael Kareta, PhD

Sanford Research

Sioux Falls, SD

Bioinformatician

Expertise: Basic mechanisms that define cellular identity, functional genomics, bioinformatics 

Chun-Hung Chan, PhD

Sanford Health

Sioux Falls, SD

Biorepository Lead

Chris Beck, MA, PhD

University of Rochester

Rochester, NY

Biostatistician

Expertise: Biostatistics, clinical trials, ROC curves

Ryan Roemmich, MD

Kennedy Krieger Institute

Baltimore, MD

Motor Analytics Co-Lead

Expertise: Rehabilitation, artificial intelligence, precision medicine

Jan Stenum, PhD

Johns Hopkins Medicine

Baltimore, MD

Motor Analytics Co-Lead

Expertise: Movement analysis, biomechanics, walking

Heather Adams, PhD

University of Rochester Batten Center

Rochester, NY

Neuropsychology Co-Lead

Expertise: Neuropsychology, Batten disease, pediatric dementia, natural history, neurobehavioral phenotyping

Natasha Ludwig, PhD

Kennedy Krieger Institute

Baltimore, MD

Neuropsychology Co-Lead

Expertise: Rare genetic conditions intellectual disability epilepsy autism outcome measurement

Andrea Miele, PhD

Children's Hospital Colorado

Aurora, CO

Neuropsychology Co-Lead

Expertise: Neuropsychology, pediatric neurodegenerative disorders

Megan Abbott, MD

Children's Hospital Colorado

Aurora, CO

Observer Reported Outcomes Lead

Expertise: Epilepsy, clinician and caregiver reported outcomes

Nicolas Abreu, MD

NYU Langone Health

New York, NY

Expertise: Neurodevelopmental disabilities, lysosomal storage disorders

Emily de los Reyes, MD

Nationwide Children's Hospital

Columbus, OH

Expertise: Complex illnesses of childhood, primary immunodeficiencies