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Neurogenetics and Lysosomal Storage Disease Center

The Neurogenetics and Lysosomal Storage Disease Center at St. Joseph’s Children’s Hospital provides diagnostic, evaluation, management, and treatment services for patients with neurogenetic and lysosomal storage diseases. The program participates in clinical research aimed at better understanding these conditions as well as the development and evaluation of therapies.

The program offers a comprehensive team approach to care that is broad based across many medical specialties. Our team includes multiple physicians and support staff who work closely together within a comprehensive network of pediatric and adult specialists. Our cohesive group of healthcare providers work together with the shared goal of providing outstanding personalized care for our patients.

The Neurogenetics and Lysosomal Storage Disease Center is devoted to remaining on the cutting edge of research and treatment, providing comprehensive and compassionate care for all of our patients affected by neurogenetic diseases. As one of the largest programs in New Jersey, the Neurogenetics and Lysosomal Storage Disease Center combines advanced clinical care with opportunities for participation in clinical research and patient registries.

Our multidisciplinary team has extensive experience in the care of pediatric and adult neurogenetics disease. The clinic coordinates care for children and adults with these rare and complex disorders, including but not limited to:

  • Leukodytrophies
  • Niemann-Pick disease
  • Mucolipidoses
  • Gaucher disease
  • Fabry disease
  • MPSI Type I (also known as Hurler, Hurler-Scheie, or Scheie syndrome)
  • MPSII (also known as Hunter syndrome)
  • MPSIV (also known as Morquio syndrome)
  • MPSVI (also known as Maroteaux-Lamy)
  • Pompe disease
  • Hereditary spastic paraplegia
  • Familial dystonia, paroxysmal dystonia
  • Familial ataxias
  • Familial Alzheimer's disease
  • Charcot Marie Tooth disease
  • Wilson’s disease
  • Mitochondrial encephalomyopathies
  • Genetic Epilepsy Syndromes

We are currently involved in enzyme replacement therapy for patients with Gaucher disease, Fabry disease, Pompe disease, Hurler syndrome, Hunter syndrome, Morquio syndrome and Maroteaux-Lamy syndrome.

  • Contact Us

For further information about the Neurogenetics and Lysosomal Storage Disease Center at St. Joseph’s Children’s Hospital, please call 973.754.2727.