Skip to main content
Department of Human Genetics

Emory Lysosomal and Peroxisomal Storage Disease Center section navigation

History of Emory's LSDC

When Emory's Lysosomal and Peroxisomal Storage Disease Center was founded in 1993, Type I Gaucher disease was the first and only genetic disorder that could be treated effectively with enzyme replacement therapy (ERT).

Since then, treatment has become available clinically for:

  • Cystinosis
  • Fabry disease
  • Gaucher disease
  • Lysosomal Acid Lipase deficiency (also known as LAL-D, Wolman disease, or LAL deficiency)
  • Mucopolysaccharidosis Type I (also known as Hurler, Hurler-Scheie, or Scheie syndrome)
  • Mucopolysaccharidosis Type II (also known as Hunter syndrome)
  • Mucopolysaccharidosis Type IVA (also known as Morquio syndrome type A)
  • Mucopolysaccharidosis Type VI (also known as Maroteaux-Lamy)
  • Mucopolysaccharidosis Type VII (also known as Sly syndrome)
  • Late infantile neuronal ceroid lipofuscinosis type 2 (also known as Batten disease or Jansky-Bielschowsky disease)
  • Pompe disease (also known as acid maltase deficiency or glycogen storage disease type II)
  • Zellweger spectrum disorders (liver disease symptoms)

A variety of treatment regimes including chaperone therapies, enzyme replacement therapy, and substrate inhibition therapy are currently under development for many LSDs.

Patient Meetings

Everybody! (Cross LSDs meetings)

  • Behind the Scenes:  The Inside Scoop on Clinical Research in the LSDs

Fabry Disease

  • Fabry Disease Family Meeting
  • Fabulous Fabry Female Meeting
  • Fabry Male Meeting

Gaucher Disease

  • Gaucher Disease Family Meeting
  • Gaucher Disease Pediatric Meeting
  • Gaucher Supper Club


  • Annual Mucopolysaccharidosis and Mucolipidosis Family Meeting

Questions about Meetings? Contact Us.

Please call the Emory Lysosomal Storage Disease Center at 404-778-8565 or 800-200-1524 for further information on dates and locations of future meetings.