Accomplishments of the Association


  • Developed and designated Pediatric Neurotransmitter Disease as an umbrella term for genetic disorders that affect the synthesis, metabolism and catabolism of neurotransmitters in children.
  • PND Association established as first disease organization representing children with diseases of neurotransmitter metabolism.


  • Completed national/international mailing to child neurologists included "how to recognize and test for PND's."
  • Presented/Exhibited; World Congress on Disabilities, Child Neurology Society.
  • Launched PND Website.
  • Exceptional Parent Magazine article highlighted PND Organization.


  • Developed family/professional registry and support for PND clinical databases.
  • Launched PND online support group.


  • Presented/ Exhibited; Child Neurology Society, American Society Human Genetics.


  • Co-sponsored with National Institute of Health Office of Rare Disease and National Institute of Neurological Diseases and Stroke the First International Symposium on Pediatric Neurotransmitter Diseases, May 2002, Washington DC.
  • Keith Hyland awarded $6000 towards purchase of Bio-Rad Decode System for rapid DNA screening for earlier detection of PND's.
  • Mike Gibson awarded $6000 towards GHB Research Fund.


  • Annals of Neurology released July 2003 supplement on Pediatric Neurotransmitter Diseases distributed to 7000 worldwide.
  • 2003 Medical & Scientific Advisory Board reports that PND testing increased 150% over last two years.
  • First Family Conference, July 2003, Washington DC


  • Keith Hyland PhD, awarded $22,000 towards purchase of HPLC autosampler and HPLC fluorescence detector for PND enzyme assays.
  • Phillip L. Pearl MD awarded $30,000 SSADH research fellowship.
  • Presented/Exhibited; First International Symposium on Pediatric Movement Disorders, American Society for Experimental Neurotherapeutics, American College of Medical Genetics
  • Simon Heales, PhD awarded $10,000 towards purchase of equipment to expedite PND testing in the UK.


  • Launched New PND Website.
  • PND Research Grant Program established.


  • $245,000 Awarded to Research On Behalf of Pediatric Neurotransmitter Diseases
  • PND members meet with Genzyme to introduce PND's and discuss AADC gene therapy trial
  • PND's are now being listed in child neurology text books with entire chapters devoted to the diseases that we represent.


  • PND members lobby on capital hill with Parkinson's Action Network on behalf of children with neurotransmitter diseases


  • The National Institute of Neurological Disease and Stroke,The Office of Rare Diseases, The Johns Hopkins School of Medicine and The PND Association Present: The Medical Management of Pediatric Neurotransmitter Disease: A Multidisciplinary Approach
  • Exceptional Parent - Editor Rick Rader - article on PND Association-Double Vision


  • PND research grant program awards $164,0000 to research on behalf of PND's


  • PND members attend AADC International conference.


  • New website launched
  • PND meets with MJ Fox Foundation - PND's introduced on foundation site
  • $12,500 to development of AADC mouse model
  • PND collaborates on AADC gene therapy clinical trial
  • Krystof Bankiewicz awarded $40,000 for development of AADC gene therapy clinical trial