Our team is dedicated to help those with LAL-D
Donna has over two decades of experience in rare, genetic disease diagnostics, management and clinical research, clinical trials and rare disease registries, in clinical genetics, as Director of the Lysosomal Storage Conditions Program at North Shore University Hospital in New York (now Northwell). Previously, Donna also worked in clinical cancer genetics on research publications at Memorial Sloan Kettering Cancer Center,
Donna contributed data to the first natural history study for rapidly progressive, infantile LAL-D to facilitate the original sebelipase alfa (Kanuma) clinical trial without a placebo group. Subsequently, she oversaw two sebelipase alfa enzyme replacement therapy clinical trials for rapidly progressive infantile lysosomal acid lipase deficiency (LAL-D) and for childhood and adult LAL-D, as well as enzyme replacement therapy and small molecule clinical trials for many other lysosomal storage conditions. Donna L. Bernstein has published numerous peer-reviewed journal articles, abstracts and textbook chapters, on lysosomal acid lipase deficiency and other rare genetic conditions. Donna serves on the Board of Directors for LAL-D Aware, the lysosomal acid lipase deficiency patient support organization, and is dedicated to LAL-D research, education and facilitating LAL-D diagnosis to improve patient care.
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.
Anthony is interested in nutrition, especially in the care of children with difficulty gaining weight, feeding issues, and celiac disease.
He co-authors the Pediatrician's Guide to Feeding Babies and Toddlers. He writes web-based education materials as a member of the Public Education committee of the North American Society of Pediatric Gastroenterology, Hepatology, and Nutrition and for the American Academy of Pediatrics Healthy Children website.
He graduated from Columbia University with a Bachelor of Arts in Neuroscience and Behavior and attended medical school at Tufts University School of Medicine where he also received his master of public health. He completed his pediatric residency at the Children’s Hospital at Montefiore Medical Center and his pediatric gastroenterology fellowship at the Morgan Stanley Children’s Hospital of New York at Columbia University.
Driven by a desire to specialize in endocrinology, Dr. Ebrahimi dedicated her efforts to completing a fellowship at the University of Arizona in Tucson. This intensive training equipped her with the expertise needed to address a range of endocrine disorders, from diabetes and bone-related conditions to hyperlipidemia and congenital liver diseases.
Now, Dr. Ebrahimi is on the brink of realizing her dream as she prepares to launch her practice in endocrinology at Northwest Medical Center in Tucson. With a focus on providing comprehensive care, she specializes in managing a spectrum of conditions, including thyroid disorders, pituitary issues, and hypogonadism, ensuring patients receive the specialized attention and treatment they deserve. Through her dedication and expertise, Dr. Ebrahimi is poised to make a significant impact in the field of endocrinology, improving the lives of countless individuals in the Tucson community and beyond.
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.