Brain Bank - Information on donating your MLD family member's brain for further MLD research.


Clinical Descriptions of MLD

• NIH/GeneReviews - Metachromatic Leukodystrophy, ARSA Deficiency A comprehensive, fairly easy to read , and comprehensive overview written by Dr. Arvhan Fluharty of UCLA in 2006.


• eMedicine An excellent, easy to read MLD overview covering the clinical, diagnosis, treatment, progression, medication (none) & follow-up care for MLD family members. Written by Doctors Ikeda & Moore from UCLA and Dr. Steiner of Oregon Health & Science University. September 2008


• NCBI - National Center for Biotechnology Information from the National Institute of Health, National Library of Medicine. A comprehensive source of information - mostly very technical.
  


• Comprehensive & Detailed MLD Summary An Italian source ... ~1995
  
  

Other non-MLD Clinical Descriptions of Interest

• University of Vermont - DISEASES OF THE MYELIN SHEATH
  
  
  

Frequently Requested Medical Contacts (listed alphabetically)

These are not the only medical resources for MLD nor are they necessarily "all knowing" or able to accept every patient that asks for their help or consultation. You need to have a local care team in place for your family member - one that works with you , and responds to your requests and concerns. Many have found that their Neurologist is the key care team member.

• Dr. Lawrence Charnas - University of Minnesota - clinical neuroscience
  University of Minnesota, 516 Delaware Street SE, 4th floor, Minneapolis, MN 55455
  612-626-6777
  
  
• Dr. Florian Eichler - Massachusetts General Hospital/Harvard, Boston, MA
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  • Dr. Maria Escolar - FPG Child Development Institute, University of North Carolina, Chapel Hill, NC
    +1 919-966-4810, Maria.Escolar@CDL.UNC.EDU
    
    
  • Dr. Julie Hauer - University of Minnesota - Pediatric Palliative & Pain Care Specialist.
    University of Minnesota, 717 Delaware Street SE, Minneapolis, MN 55414
    651-229-3818, hauer006@umn.edu
    
    Dr. Mark Hughes - Genesis Genetics Institute - pioneers in Preimplantation Genetic Diagnosis (PGD) inclding laboratory services for vitro fertilization (IVF). 313-579-9650
    
    
  • Dr. Edwin H. Kolodny - Chairman, Department of Neurology (Genetics), University of New York
    
    
• Dr. Joanne Kurtzberg - Duke University, North Carolina - Pediatric Bone Marrow and Stem Cell Transplant Program
  
  Dr. Paul Orchard - University of Minnesota - Inherited Metabolic and Storage Disease Bone Marrow Transplantation Program
  
  Dr. Michel Philippart - Orthopedic Hospital, Los Angeles, CA
  
  

• Dr. David A. Wenger - Lysosomal Diseases Testing Laboratory, Jefferson Medical College, Pennsylvania. See lab info here.
  Also see MLD testing information here
  
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Medical Centers

• Fairview-University Blood and Marrow Transplant (BMT) Program - University of Minnesota
  
  
• Bone Marrow and Stem Cell Transplant Program - Duke University, North Carolina
  
  
• Hematopoietic Stem Cell Transplant Therapy - Children's Mercy Hospital, Kansas City, MO
  
  
• Google Search - no experience or endorsements implied.
  
  

Medical Definitions & Additional Information

• Online Mendelian Inheritance in Man - very comprehensive and technical from the National Center for Biotechnology Information
  
  
• MEDLINEplus - National Inst Health, National Library of Medicine
  
  
• National Organization for Rare Disorders (NORD)
  
  
• Human Gene Mutation database - very technical
  
  
• Pediatrics Journal - search for Metachromatic Leukodystrophy
  
  
• National Institute of Health - Office of Rare Disease clinical trial listing - search for Metachromatic Leukodystrophy
  
  
• Centerwatch clinical research overview and and clinical trials database - search for Metachromatic Leukodystrophy
  
  
• National Institute of Neurological Disorders and Stroke
  
  
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MLD Diagnostic Labs

• David Wenger's lab at Thomas Jefferson University - The recommended lab for all US MLD tests.
  
  MLD Diagnostic Labs - A list of US and International labs testing for MLD including Australia, Germany, India, Switzerland, Canada, Israel, and Austria labs.
  
  
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• Bethany's Hope - Canadian Foundation supporting gene therapy based MLD research - sponsoring a lab in London, Ontario, Canada
  
  
• The Myelin Project - focused on accelerating the research on repair of the myelin damaged by the genetic diseases such as the leukodystrophies, and by acquired diseases such as multiple sclerosis.

  
  San Raffaele-Telethon Institute of Gene Therapy of Genetic Diseases (Italy) - gene therapy research

  
  Myelin Repair Foundation (California) - a unique approch to seeking myelin repair

  
  

• Bone Marrow & Stem Cell Transplantation