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  • GFPD
    Contact Become a member of GFPD to receive our quarterly newsletter Join our support group and be connected with other families Make a donation to help support our cause Every little bit helps MISSION The mission of The Global Foundation for Peroxisomal Disorders is to help children and families faced with a diagnosis of a Peroxisomal Biogenesis Disorder in the Zellweger Spectrum of Disorders and to assist family members and professionals through educational programs research and support services The Global Foundation for Peroxisomal Disorders is a 501 c 3 public charity committed to funding research to develop a greater understanding of Peroxisomal Biogenesis Disorders PBDs Additionally GFPD organizes family support and informational conferences connects families through an online support group and provides an equipment exchange program GFPD also shares objective and credible information to families and caregivers of patients with PBDs and is a voice in the public arena for children affected by the disorders The Global Foundation for Peroxisomal Disorders is a resource for families who have received a diagnosis of Zellweger Syndrome Neonatal Adrenoleukodystrophy NALD Infantile Refsum Disease IRD and D Bifunctional Protein Deficiency through connections to medical scientific professionals and family support networks Video Faces of Peroxisomal

    Original URL path: http://www.thegfpd.org/ (2015-03-27)
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  • Global Foundation for Peroxisomal Disorders About Us | Global Foundation For Peroxisomal Disorders
    Peroxisomal Disorders GFPD is committed to assisting families faced with PBDs and providing funds for research We accomplish this mission by organizing family conferences providing an online family support group facilitating an equipment exchange program and providing educational resources for families and professionals Join our fight to make a better world for children with PBDs by becoming a member of GFPD As a member of GFPD you will receive our quarterly newsletter with updates on research and GFPD activities Name Address Street Address Address Line 2 City State Province Region ZIP Postal Code Afghanistan Albania Algeria American Samoa Andorra Angola Antigua and Barbuda Argentina Armenia Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia Bosnia and Herzegovina Botswana Brazil Brunei Bulgaria Burkina Faso Burundi Cambodia Cameroon Canada Cape Verde Cayman Islands Central African Republic Chad Chile China Colombia Comoros Congo Democratic Republic of the Congo Republic of the Costa Rica Côte d Ivoire Croatia Cuba Cyprus Czech Republic Denmark Djibouti Dominica Dominican Republic East Timor Ecuador Egypt El Salvador Equatorial Guinea Eritrea Estonia Ethiopia Fiji Finland France French Polynesia Gabon Gambia Georgia Germany Ghana Greece Greenland Grenada Guam Guatemala Guinea Guinea Bissau Guyana Haiti Honduras Hong Kong Hungary Iceland India Indonesia Iran Iraq Ireland Israel Italy Jamaica Japan Jordan Kazakhstan Kenya Kiribati North Korea South Korea Kosovo Kuwait Kyrgyzstan Laos Latvia Lebanon Lesotho Liberia Libya Liechtenstein Lithuania Luxembourg Macedonia Madagascar Malawi Malaysia Maldives Mali Malta Marshall Islands Mauritania Mauritius Mexico Micronesia Moldova Monaco Mongolia Montenegro Morocco Mozambique Myanmar Namibia Nauru Nepal Netherlands New Zealand Nicaragua Niger Nigeria Norway Northern Mariana Islands Oman Pakistan Palau Palestine Panama Papua New Guinea Paraguay Peru Philippines Poland Portugal Puerto Rico Qatar Romania Russia Rwanda Saint Kitts and Nevis Saint Lucia Saint Vincent and the Grenadines Samoa San Marino Sao

    Original URL path: http://www.thegfpd.org/about-us (2015-03-27)
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  • Medical Scientific Advisory Board | Global Foundation For Peroxisomal Disorders
    other families Make a donation to help support our cause Every little bit helps Medical Scientific Advisory Board Dr Gerald Raymond M D University of Minnesota gvraymon umn edu Dr Nancy Braverman M D McGill University nancy braverman mcgill ca Dr William Rizzo M D University of Nebraska Medical Center wrizzo unmc edu Dr Joe Hacia Ph D University of Southern California hacia usc edu Dr Steve Steinberg Ph D

    Original URL path: http://www.thegfpd.org/for-doctors/medical-scientific-advisory-board (2015-03-27)
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  • For Physicians and Scientists | Global Foundation For Peroxisomal Disorders
    many of the following characteristics are present in all of the disorders with a variation in severity Global developmental delay is a hallmark of the Zellweger Spectrum and the cause seems to be the incomplete migration of neuroblasts during development This is often accompanied by severe craniofacial abnormalities including a high forehead a flat occiput the bone forming the rear and rear bottom of the skull a large fontanelle the child s soft spot a broad nasal bridge shallow orbital ridges the ridge beneath the eyebrow and a high arched palate Another typical feature of the Zellweger Spectrum involves abnormalities of the eye such as Brushfield spots speckled iris although this can occur in normal children cataracts and glaucoma Hepatomegaly enlargement of the liver renal cysts impaired adrenocortical function and hypotonia poor muscle tone or floppiness are also common features Biochemical Phenotypes of the Zellweger Spectrum The biochemical phenotype of these disorders is reflective of the defect in peroxisome biogenesis Very long chain fatty acid VLCFA levels are increased compared to normal phytanic acid levels are increased and plasmalogen levels are reduced There are also high levels of the bile acid intermediates THCA and DHCA as well as increased levels of the lysine metabolite pipecolic acid Diseases of the Zellweger Spectrum result from defects in peroxisome biogenesis Patient cell lines have been divided into 12 complementation groups demonstrating there are at least 12 genes involved in human peroxisome biogenesis The molecular basis of disease for 11 of these complementation groups has been elucidated Complementation group 11 is not part of the Zellweger Spectrum but rather has the distinct phenotype of RCDP explained below 50 of the patients of the Zellweger Spectrum below to complementation group 1 which is caused by mutations in PEX1 Within this complementation group there are two

    Original URL path: http://www.thegfpd.org/for-doctors/for-doctors (2015-03-27)
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  • For Educators | Global Foundation For Peroxisomal Disorders
    of clinical characteristics is highly variable In general many of the major systems are affected including the eye many vision difficulties the ear hearing impaired the liver enlarged the kidney the cartilage the heart malformation of the cardiovascular system and the muscles GFPD is committed to supporting individuals and families impacted by the devastating effects of PBDs by providing information educational tools conferences and links to medical professionals Additionally GFPD has medical and scientific advisors who have committed their life s work to researching Peroxisomal Biogenesis Disorders and providing care to affected individuals Individuals with Peroxisomal Biogenesis Disorders can vary from mild to severe in their clinical presentation Past documentation and medical research suggested three separate conditions including Infantile Refsum Disease IRD Neonatal Adrenoleukodystrophy NALD and Zellweger Syndrome ZS The difference between these disorders is one of severity Patients with ZS rarely survive the first year patients with NALD can live into childhood while patients with IRD can survive even longer sometimes into adulthood Scientists estimate that a PBD affects between one in 25 000 to one in 100 000 live births Children with PBDs should have access to resources available to children who are deaf blind Support can be

    Original URL path: http://www.thegfpd.org/for-doctors/for-educators (2015-03-27)
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  • For Therapists | Global Foundation For Peroxisomal Disorders
    services are necessary and prescribed for a child with a Peroxisome Biogenesis Disorder PBDs throughout his her lifetime Studies have shown slowing of decline can be achieved by providing an increase of services It has been clearly shown that strengthening slows the rate of deterioration in adrenoleukodystrophy Additionally ongoing assessments should be made to maintain physical safety of the child Children with PBDs often require additional supports such as foot

    Original URL path: http://www.thegfpd.org/for-doctors/for-therapists (2015-03-27)
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  • Current Research | Global Foundation For Peroxisomal Disorders
    the test and will need to be cooperative and fixate on the light The child typically needs to be at least 4 years old The face is stabilized with a positioning device during the test A special camera takes pictures of the inner eye The OCT image is captured by directing beams of light into the eye for a few seconds These beams of light are reflected out of the eye and are processed to give very detailed cross sectional images of the different structures of the eye The test should also include Fundus Autofluorescence FAF imaging This additional imaging test determines whether retinal cells that are present are also functionally active FAF has been useful in determining the underlying mechanisms that cause retinal disease Families interested in pursuing this procedure for their child ren can find more information and a list of facilities in North America that perform OCT scans at http www thegfpd org for families medical educationalinformation July 2013 Research is beginning on the following projects as the Global Foundation for Peroxisomal Disorders awards its first ever research grants Dr Nancy Braverman of McGill University in Montreal Canada was awarded 10 875 00 for the Canadian arm of a project entitled A Pilot Multi Center Open Label Trial Assessing the Safety and Efficacy of Betaine in Children with Peroxisome Biogenesis Disorders Dr William Rizzo of the University of Nebraska Medical Center was awarded 25 000 for the U S arm of the project entitled A Pilot Open Label Trial Assessing the Safety and Efficacy of Betaine in Children with Peroxisome Biogenesis Disorders Dr Joseph Hacia of the University of Southern California was awarded 50 000 for his project entitled Neural Cell Resources for PBD ZSD Drug Testing Dr Steven Steinberg of Kennedy Krieger Institute in Maryland was

    Original URL path: http://www.thegfpd.org/for-doctors/current-research (2015-03-27)
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  • Grants | Global Foundation For Peroxisomal Disorders
    of small grants Grants are designed to assist investigators in obtaining preliminary findings testing proof of concept or conducting other research activities designed to prepare and support competitive full scale grant applications related to Peroxisomal Biogenesis Disorder Zellweger Spectrum Disorder PBD ZSD Clinicians and researchers qualified in any aspect of PBD ZSD may apply The application should contain aims that are specific to PBD ZSD The period of the award will be up to 2 years in length starting September 1st of the year that the application was submitted Awards will be made up to 25 000 annually for direct costs All applications will be critiqued and scored by an independent grant review board comprised of GFPD board members and independent medical and scientific personnel Application deadline is June 14th 2013 Download the 2013 Grant Application and 2013 Grant Application Instructions Format Word Doc Receipt Date Friday June 14 2013 is the due date for all applications Submissions by mail must be postmarked no later than June 14 2013 Emailed applications must be received by 9 00 p m EST on June 14 2013 Applications may be submitted electronically as a Word document or PDF to grants thegfpd org Please

    Original URL path: http://www.thegfpd.org/for-doctors/grants (2015-03-27)
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