Our Team

Donna L. Bernstein is a board certified genetic counselor with extensive experience in sponsored genetic testing programs, newborn sequencing, research collaborations, rare disease registries, patient advocacy, industry and clinical genetics laboratory partnerships and patient and HCP rare disease genetics education. Active research areas include population screening, genetic disease prevalence and allele frequency studies and genotype/phenotype analyses with the goal of fostering increased access to genetic testing, genetic counseling and improved rare genetic disease diagnoses. She brings over two decades of experience, as former Director of the Lysosomal Storage Conditions Program at North Shore University Hospital in New York (now Northwell), previously at Memorial Sloan Kettering Cancer Center in clinical cancer genetics research and publications and with several biopharmaceutical companies developing therapeutics for rare genetic diseases.

Research initiatives include contributing data to the rapidly progressive, infantile LALD natural history study, which facilitated the original sebelipase alfa (Kanuma) clinical trial, serving as an historical control, overseeing a sebelipase alfa enzyme replacement therapy clinical trial site for rapidly progressive infantile lysosomal acid lipase deficiency (LALD) and for childhood and adult LALD, as well as enzyme replacement therapy and small molecule clinical trials for numerous additional lysosomal storage conditions and rare diseases. Publications include original research in several peer-reviewed journals, abstracts and textbook chapters on lysosomal acid lipase deficiency and other rare genetic conditions. Donna has served on the LALD Aware Board of Directors since 2015, and remains dedicated to LALD research, education, facilitating diagnoses to improve patient care.

Christa Smith is a parent to Ella, who was diagnosed with LAL-D in 2019. She is a speech therapist in a public school and resides in Amherst, Massachusetts. Christa’s mission is to unite families affected by LAL-D worldwide so that patients can support each other and have the best possible outcomes. Please contact me at smithac1973@gmail.com for any inquiries or questions.

Dr. Grabowski received his M.D. from the University of Minnesota where he also completed his Pediatric residency and fellowship training in Human Genetics. After 13 years at Mount Sinai School of Medicine in New York, where he established the MSSM Lysosomal Disease Center, he moved to Cincinnati, where he was the A. Graeme Mitchell Chair of Human Genetics and Director of the Division of Human Genetics within the Children’s Hospital Research Foundation (CHRF).

He is Professor Emeritus in the Departments of Pediatrics and Molecular Genetics, Biochemistry, and Microbiology at the University of Cincinnati College of Medicine. He has published over 355 scholarly works on the basic and clinical science of lysosomal diseases, including Gaucher disease, Fabry disease, Pompe disease, mucopolysaccharidoses, and lysosomal acid lipase deficiencies. His was the founding Chair of the American Expert Medical Committee of the Project Hope/Genzyme-Sanofi Gaucher Initiative, a philanthropic program to treat Gaucher disease in Egypt and other countries. He has served on this committee for over 30 years. He was the Chief Scientific Officer (CSO) at Synageva from January 2014 to June 2015 and was in charge of developing many programs and platforms before Alexion purchased the company. He became the CSO at Kiniksa Pharmaceuticals until June 2019. Currently, he is an independent consultant to several companies and foundations developing therapies for the unmet needs of those with rare diseases.

Paul T. Martin, PhD, is a Principal Investigator in the Center for Gene Therapy at The Research Institute at Nationwide Children’s Hospital. He is a Professor of Pediatrics and Professor, of Physiology, and Cell Biology at The Ohio State University College of Medicine. He is also Associate Director of the NIH Center of Research Translation in Muscular Dystrophy Therapeutic Develpment at Nationwide Children’s Hospital.

Dr. Martin’s NIH-funded research program focuses on defining functional roles for cell surface carbohydrates in neuromuscular development and disease. Dr. Martin’s lab has identified particular carbohydrates that, when overexpressed in muscle cells, can prevent muscular dystrophy from occurring in several forms of the disease. Current work is focused on translating these findings into therapies that patients with these disorders can use. Additional work focuses on developing novel protein and gene therapies for congenital forms of muscular dystrophy.

Maggie Smith is a dedicated high school student and active volunteer with LAL-D Aware. Her sister, Ella, was diagnosed with LAL-D when she was eight years old. Passionate about helping others, she contributes to fundraising events by assisting with event planning, social media outreach, and community engagement. Her experiences supporting rare disease awareness have inspired her to pursue a career in healthcare. Maggie is currently applying to nursing school for Fall 2026, where she hopes to continue making a difference through compassionate, hands-on care and patient advocacy.