Department of Human Genetics

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.