Care Resources
The GFPD has compiled the resources below for families impacted by peroxisomal disorders, grouped in categories for easy navigation. If you know of a resource that may be helpful to our families, please email contactus@thegfpd.org
GeneReviews® and OMIM®
GeneReviews®, is an international point-of-care resource for busy clinicians, provides clinically relevant and medically actionable information for inherited conditions in a standardized journal-style format, covering diagnosis, management, and genetic counseling for patients and their families.
Each chapter in GeneReviews® is written by one or more experts on the specific condition or disease and goes through a rigorous editing and peer review process before being published online.
OMIM®, or the Online Mendelian Inheritance in Man®is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.
The full-text, referenced overviews in OMIM® contain information on all known mendelian disorders and over 15,000 genes. OMIM® focuses on the relationship between phenotype and genotype. It is updated daily, and the entries contain copious links to other genetics resources.
GeneReviews® and OMIM® Database for other Peroxisomal Disorders
GeneReviews® for Peroxisomal Acyl-CoA Oxidase Deficiency
OMIM® entry on Acyl-CoA Oxidase Deficiency
GeneReviews® for D-Bifunctional Protein Deficiency-
OMIM® entry on D-Bifunctional Protein Deficiency
GeneReviews® for X-Linked Adrenoleukodystrophy
OMIM® entry on X-Linked Adrenoleukodystrophy
GeneReviews® on Rhizomelic Chondrodysplasia Punctata
OMIM® entry on Rhizomelic Chondrodysplasia Punctata
Patient Genetic and Family Carrier Testing- NEW RESOURCES!
NEW! Prevention Genetics Next Generation Sequencing for 13 PEX Genes
Myriad Women’s Health (Formerly Counsyl)
Research Resources
Sterol & Isoprenoid Research Consortium (STAIR)
Wangler Lab at Baylor College of Medicine
See also our page on Clinical Trials
Foundations and Support Groups
United Leukodystrophy Foundation- Support for all leukodystrophies
Australian Leukodystrophy Support Group- Support for families facing leukodystrophy in Australia
European Leukodystrophy Foundation- Support for families facing leukodystrophy in Europe
Axel Foundation- Foundation centered around support for families facing Zellweger Spectrum Disorder in the Netherlands
Axel's Metabolic Disorder (educational comic book created by Axel Foundation)
Zellweger UK- Foundation in the United Kingdom focused on Zellweger Spectrum Disorder
PBD Canada- Support group in Canada for families facing PBD-ZSD and the related peroxisomal disorders
Fundacion Lautarote Necesita- Foundation supporting leukodystrophy research in Argentina
Bereaved Parents of PBD Kids Support Group- This group is hosted by a mother who has lost a child to a peroxisomal disorder.
Make-A-Wish Foundation- Provides wishes for children with terminal illnesses
Lily's List - Lily's List is an organization that supplies boxes of organizational supplies to families with medically fragile children.
Deaf-blind and Educational Resources
National Center on Deaf-Blindness
National Family Association for Deaf-Blind (NFADB)
Helen Keller National Center (HKNC)
Texas School for the Blind and Visually Impaired (TSBVI)
Pyramid of Learning (Typical Learner vs Deafblind Learner)
A Family’s Guide to Interveners (Download Booklet)
Open Hands, Open Access Deafblind Intervener Modules
Central Michigan University - Deafblind Intervener Online Courses
Utah State University - Deafblind Intervener Online Courses
National Intervener Certification E-Portfolio (NICE) For Interveners
Rare Disease Advocacy and Education
GeneReviews® and OMIM® Database for Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder (formerly known as Zellweger Syndrome, Neonatal Adrenoleukodystrophy, Infantile Refsum Disease, and Heimler Syndrome):
GeneReviews® for Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder https://www.ncbi.nlm.nih.gov/books/NBK1448/
OMIM® entry on Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder https://omim.org/entry/214100?search=zellweger&highlight=zellweger