Medical Links

The following individuals and institutions are engaged in ongoing research into the peroxisomal disorders. Inquiries and requests for information may be made directly to them.


Dr. Hugo Moser, perhaps the foremost specialist on peroxisomal disorders.
Kennedy Krieger Institute, Johns Hopkins University School of Medicine
707 North Broadway
Baltimore, Maryland 21205  USA
Telephone: (410)550-9405
Fax:           (410)550-9839.

Dr. Gerald Raymond, colleague of Dr. Moser, director of  an FDA-funded
study of the treatment of peroxisome assembly disorders using the
compound docosahexaenoic acid with arachidonic acid
e-mail:  Gerald Raymond, M.D.  <raymond@kennedykrieger.org>
http://www.kennedydrieger.org/research/raymond.htm

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Women's and Children's Hospital, North Adelaide, South Australia 5006
Australasian Referral Laboratory for the diagnosis of Lysosomal,
Peroxisomal, and other Genetic Disorders
http://www.health.adelaide.edu.au/NRL/research.htm

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Gifu University School of Medicine, 40 Tsukasmachi, Gifu 500, Japan

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Prof. Dr Ronald J.A. Wanders, biochemist
Prof. Dr. Peter Barth, neuropediatrician
Prof. Dr. Hugo S.A. Heijmans, pediatrician
This laboratory has become one of the reference centers for the diagnosis of peroxisomal disorders, both postnatal and prenatal. In addition the clinic has a central function in the care and treatment of patients with various peroxisomal disorders including Infantile Refsum's Disease.
Emma Children's Hospital AMC, University of Amsterdam
Department  of Clinical Chemistry, Laboratory of Genetic Metabolic Disease.
P.O. Box 22700, 1100 DE Amsterdam, The Netherlands.
Telephone: +31 20 566 5958
Fax:           +31 20 696 2596

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Dr. Manuela Martinez, a physician who was the first researcher to report the deficiency of DHA in patients with IRD and other peroxisomal biogenesis disorders, and who offers a DHA supplementation therapy as a matter of established benefit.
Dr. Martinez is a proponent of the view that given very early in life, during the time when DHA accretion is maximal in the developing brain, DHA therapy is at its most effective.
Hospital Materno-Infantil Valle de Hebron
Plante 14, P. Valle de Hebron, 119-129 08035   Barcelona, Spain
Telephone: 34-93-489-4065 (direct)
                  34-93-489-4067 (secretary)
e-mail    [at the hospital]  <mmr@hg.vhebron.es>
             [at home]           <3572mmr@comb.es>
http://www.momtahan.com/mmartinez

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Centro de Investigaciones en Bioquimica (CIBI)
Universidad de los Andes
Carrera 1, No. 18, 10 Edificio M Piso 3
Santafe de Bogota, Columbia
Telephone: 2866289 or 2824066 ext. 2780
e-mail:      <jeuribe@uniandes.edu.co>    (Dr Alfredo Uribe, director)
This laboratory performs tests to aid in the diagnosis of various metabolic disorders, with specialization in the study of neurodegenerative diseases including IRD and other peroxisomal disorders.

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Dr. Robert Steiner, Ian's physician,  has kindly volunteered to help refer parents to knowldgeable specialists in their area of the world.
Dr Steiner is the director of the Metabolic Clinic of the
Child Development and Rehabilitation Center (CDRC),
Oregon Health Sciences University (OHSU)
http://www.ohsu.edu/cdrd
CDRC-F,  PO Box 574
707 SW Gaines Rd
Portland, Oregon   97207-0574  USA
Telephone: (503)494-7859
Fax:            (503)494-2781
e-mail:  Robert Steiner, M.D   <steinerr@ohsu.edu>
http://www.ohsu.edu/som-Pediatrics/faculty/steinerr.htm



Medical information, professional organizations and family support:

http://www.peroxisome.org
The Peroxisome Website
This site was created and is maintained by the laboratory of Stephen J Gould at the Johns Hopkins University School of Medicine, and provides information and references on the structure, assembly and function of the peroxisome, and the peroxisomal disorders. It also contains numerous links to the websites of other peroxisome researchers worldwide.

http://www.kennedykrieger.org/
The Kennedy Krieger Institute, Johns Hopkins University School of Medicine

http://www.pcnet.com/~orphan/
National Organization for Rare Disorders (NORD)
NORD is a federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases through programs of education, advocacy, research and service.

http://www.climb.org.uk
Climb (Support Services)
The Quadrangle, Crewe Hall, Weston Road
Crewe, Cheshire, England CW1 6UR
Telephone: 01270 250221
Fax:           01270 250244
Climb (Children Living with Inherited MetaBolic diseases) is a national umbrella organization in the UK working on behalf of children, young people, and families affected by metabolic disease, providing emotional and practical support, information and advice, and funding for research. Founded in 1981, and formerly known as the Research Trust for Metabolic Disease in Children.

http://mcrcr2.med.nyu.edu/murphp01/homenew.htm
Rare Genetic Diseases in Children: An Internet Resource Gateway
This website targets issues arising from rare genetic diseases affecting children. A source of information, contact and support for families and caregivers.

http://www.ssiem.org.uk/ssiemj.html
Society for the Study of Inborn Errors in Metabolism (SSIEM)
SSIEM exists to promote the exchange of ideas between professional workers in different disciplines who are interested in inherited metabolic disease and related topics

http://www3.ncbi.nlm.nih.gov/omim
Online Mendelian Inheritance in Man (OMIM)
This database is a catalog of human genes and genetic disorders authored and edited by Dr. Victor McKusick and his colleagues at Johns Hopkins and elsewhere. It contains textual information, illustrations, and reference information.

http://www.ncbi.nlm.nih.gov/entrez
MEDLINE/PubMed
Searchable database of references and abstracts from 4300 medical journals. United States Library of Medicine, NIH

http://www.ulf.org
United Leukodystrophy Foundation
The ULF is a nonprofit organization providing information about the leukodystrophies and identifying sources of medical care, social services, and genetic counseling.  It promotes and supports research into the causes and treatment of the leukodystrophies, which are a group of genetic disorders (including IRD and several other peroxisomal disorders) affecting the myelin.
 
http://www.our-kids.org
Our-Kids is a support group for parents, caregivers and others who are working with children with physical and/or mental disabilities and delays. The Our-Kids website supports the Our-Kids e-mail list - wonderful, busy, supportive and family-oriented.

http://just4u.com/iem/
Inborn Errors of Metabolism Family web site (IEM-FAMILY)
Another family-oriented website, with an associated mail-list

http://www.joejohnson.net/
The web page of a parent whose son is diagnosed with neonatal adrenoleukodystrophy (NALD). It is concerned with issues of all leukodystrophies, and hosts a long-running and active discussion board on the subject.

http://web.indstate.edu/thcme/mwking/inborn.html
Inborn Errors of Metabolism
http://web.indstate.edu/thcme/mwking/peroxisomedisorders.html
Disorders of Peroxisome Biogenesis (OMIM)

http://www.ohsu.edu/cliniweb/wwwvl/other_med.html
World Wide Web Virtual Library: Biosciences: Medicine
A comprehensive list of medical information resources, indices and directories. Maintained by the Biomedical Information Communication Center, OHSU

http://www.mblab.gla.ac.uk/dictionary/
On-line Dictionary of Cell Biology

http://www.chmeds.ac.nz/~mkennedy/gsflpex.htm
Gene Structure and Function Laboratory: Peroxisomes and Disease
Christchurch School of Medicine, New Zealand
 
http://web.indstate.edu/thcme/mwking/lipid-synthesis.html
Lipid Metabolism
An overview of the synthesis, structure and metabolism of lipids.
Indiana University School of Medicine, Terre Haute Center for Medical Education

http://www-biology.ucsd.edu/classes/bibc102.SP00/intro102.html
Introduction to Metabolic Biochemistry
Lukas K Buehler, University of California San Diego
Including sections on lipid metabolism (fatty acids, fats & oils, phospholipids, steroids & steroid hormones, and the fat-soluble vitamins); protein and DNA structure; membrane transport; energy metabolism; nitrogen metabolism.

http://mcrcr2.med.nyu.edu/murphp01/lysosome/hgd.htm
Human Genetic Disease: A Layman's Approach
Dr. Kelley Moremen, University of Georgia Complex Carbohydrate Research Center
Dr. Dag Malm, University of Tromso, Norway
A complete book on-line, written specifically to explain lysosomal storage diseases, however containing a great deal of general information on cell structure and biology; the synthesis and metabolism of proteins, lipids and carbohydrates; and the priciples of genetics and Mendelian inheritance.

http://www.geodata.soton.ac.uk/hm/ultra/text_a.htm
Human Morphology - Cell Ultrastructure
Dr Ian Stewart, University of Southamton, England
A series of text pages with supporting diagrams and micrographs covering all aspects of animal cell ultrastructure.
 
http://www.neuropat.dote.hu/document.htm
Neuroanatomy and Neurosciences on the Internet
A comprehensive and well-organized site with links to more than 300 academic and medical websites providing information on cell structure and biochemistry (both basic and as pertaining to neurology); cellular and large-scale anatomy and function of the brain, central nervous system, peripheral nervous system, and sensory organs; and neuropatholgy and disease. Via the Department of Neurology, University of Debrecen, Hungary. (in English)

http://www.chem.qmw.ac.uk/iupac/lipid
International Union of Pure and Applied Chemistry
IUPAC-IUB Commission on Biochemical Nomenclature
(G.P Moss, Department of Chemistry,
Queen Mary and Westfield College, London, England)
On the nomenclature of lipids - fatty acids & alcohols, sphingonine & derivatives, glycerol deriviatives, phospholipids, glycolipids, and neuraminic acids.
 
http://www.weihenstephan.de/~schlind/genglos.html 
Birgid Schlindwein's Hypermedia Glossary Of Genetic Terms

http://www.fondazioneagarini.org
Fondazione Agarini, an Italian organization in co-operation with Johns Hopkins, promoting research in neurosciences, genetics, and neuroregeneration. In Italian and English.

 



 
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Last updated 16 April 2003