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Myelin Research Identifies PMD Subgroups - Make it stand out Whatever it is, the way you tell your story online can make all the difference. https://www.pmdfoundation.org/blog/lightupforrare-on-rare-disease-day-for-pmd-and-pmld monthly 0.5 2023-02-01 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/329c6d66-3576-4c31-a407-6d691e4df62f/PMD_RareDiseaseDay2.jpg Blog - #LightUpForRare on Rare Disease Day for PMD and PMLD - Make it stand out Whatever it is, the way you tell your story online can make all the difference. https://www.pmdfoundation.org/blog/the-harutoshi-family-story monthly 0.5 2022-12-15 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/c4b915c3-2daf-4361-85d8-001c7f9a0795/PMD_HarutoshiFamilyStory.jpg Blog - The Tanaka Family Story - Make it stand out Whatever it is, the way you tell your story online can make all the difference. https://www.pmdfoundation.org/blog/the-jones-family-story monthly 0.5 2022-11-10 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/2bc53520-bc1e-4666-8f68-af3ae6ad4ab5/PMD_JonesFamilyStory2.jpg Blog - 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CHILDREN AND FAMILIES Most PMD children face severe motor impairment along with a number of related physical and intellectual development issues. This creates a varied set of challenges for both the child and the family. Specifically, quality of life becomes a greater concern as the children grow. Parents need help with providing for basic needs. Specialized equipment, such as wheelchairs, walkers, etc., is expensive and often not covered under the families’ health care plans as is sometimes the case with therapies and treatment. From an intellectual standpoint, the severe motor impairment often creates a communication barrier that is more often than not, the greatest hurdle towards further development. Providing access to available technologies can go a long way in enabling these children to get more in touch with the world around them as well as provide them with the opportunity for further development. https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/1557404765080-JR7FE3W9IDRGSRH8NZIA/IMG_0421.jpg Mission - THE GENERAL PUBLIC Although the clinical basis of the disease was described more than 100 years ago, widespread awareness of PMD among the general public is still a significant issue. With symptoms similar to severe Cerebral Palsy, PMD is still misdiagnosed to a large extent. Further, as screening tests have been developed to identify the mutation in suspected carrier mothers, the implications are that increased awareness and medical counseling can go a long way towards reducing the occurrences of the disease. https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/1557405091599-T7M4IST2Q6E4XDK0NQVY/IMG-0809.JPG Mission - RESEARCHERS AND CLINICIANS As PMD is a rare disease, with only thousands of known cases in the world; researchers are faced with a limited pool of data with which to work. This condition directly limits their ability to attract needed funds, as access to clinical data is usually a prerequisite to available grant money. This also increases the need for greater collaboration and coordination between researchers in order to be successful in the shortest amount of time possible. The impetus for forming the foundation was partly inspired by the state of the current research for leukodystrophies and genetic disorders in general. There are many exciting things that are currently happening. Much of what we know about PMD and other leukodystrophies is starting to come together. Currently, researchers working on all types of leukodystrophies are now at the point where several potential means to re-myelinating the central nervous system (CNS) have been identified. At this point, an increased PMD focus is very timely and extremely beneficial to the overall effort to re-myelinate the CNS for two reasons. First, researchers have been successful in working with PMD animal models for myelin research for many years. With these successes, an increased focus on PMD presents the opportunity for direct scale-up to human models. Unlike many other diseases, PMD animal models very closely resemble human models. This is because the PLP gene (where PMD mutations occur) is nearly identical in all animals, including humans. Second, from the standpoint of the myelin researcher, PMD provides an extremely attractive human model to work with. This is because PMD patients typically reach a developmental plateau where their condition remains relatively stable, unlike individuals affected with other leukodystrophies. PMD is not a progressive, demyelinating disease. Human PMD studies can provide researchers with a longer timeframe to study specific patients. PMD research can potentially shorten the timeline towards a cure for all diseases of myelin, including Multiple Sclerosis. At this juncture, it seems possible that, by fostering communication and collaboration between researchers, improving their access to data, and providing direction to their efforts, we now have the opportunity to accelerate the pace towards our ultimate goal of finding a cure for PMD and other leukodystrophies. https://www.pmdfoundation.org/newsletters daily 0.75 2019-04-05 https://www.pmdfoundation.org/newsletters/nd4gjjtr2akmcklehd6n7aakg4wtjz monthly 0.5 2019-04-05 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/1554478446045-ZD6IBINMU7LTU9VSDCXQ/Fall2017Newsletter-Revised-Draft-2-1.jpg Newletter - Fall 2017 https://www.pmdfoundation.org/newsletters/ycrzyfz8kb92ywed3bnyen77c5kx56 monthly 0.5 2019-04-05 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/1554477286109-4LNQNHP4VXJXHSP9XADC/Summer2017Newsletter-rev4-1.jpg Newletter - Summer 2017 https://www.pmdfoundation.org/newsletters/n9nz2r8kma36wel8lckx5rxc4k374r monthly 0.5 2019-04-05 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/1554477656510-22RFN4YOYYZDH68R9PU2/Dec2016Newsletter-rev3-1.jpg Newletter - Holiday 2016 https://www.pmdfoundation.org/newsletters/dtfshpg8p32dlcfn98lt2k8yx8tdy6 monthly 0.5 2019-04-05 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/1554477803709-KP01FOPX3AP2CI8MKEQG/Fall2016Newsletter-rev1-1.jpg Newletter - Fall 2016 https://www.pmdfoundation.org/newsletters/8l5eya8ez3nxkfax8hzkcrpgdr9s5k monthly 0.5 2019-04-05 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/1554478006869-94170YQH0V7PCSWYXOO5/Summer2016Newsletter-1.jpg Newletter - Summer 2016 https://www.pmdfoundation.org/newsletters/hynsjyss2ztzstbc6rtx33sx3bfc2x monthly 0.5 2019-04-05 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/1554478163920-GS0OLYF2QWERCEEHZI8C/Spring2016Newsletter-Rev2-1-1.jpg Newletter - Spring 2016 https://www.pmdfoundation.org/newsletters/category/Newsletter monthly 0.5 https://www.pmdfoundation.org/newsletters/tag/Spring+2016 monthly 0.5 https://www.pmdfoundation.org/newsletters/tag/Summer+2016 monthly 0.5 https://www.pmdfoundation.org/newsletters/tag/Fall+2017 monthly 0.5 https://www.pmdfoundation.org/newsletters/tag/Summer+2017 monthly 0.5 https://www.pmdfoundation.org/newsletters/tag/Fall+2016 monthly 0.5 https://www.pmdfoundation.org/newsletters/tag/Holiday+2016 monthly 0.5 https://www.pmdfoundation.org/doctors-researchers daily 0.75 2019-06-06 https://www.pmdfoundation.org/doctors-researchers/kleopas-kleopa monthly 0.5 2025-06-09 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/39c0690d-50d4-4b81-b7cc-2bb9cfe0039f/Kleopas+photo.jpg Doctors & Researchers - Dr. Kleopas Kleopa, MD, PhD, FAAN, FEAN https://www.pmdfoundation.org/doctors-researchers/tesar-paul monthly 0.5 2025-06-09 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/1582635838211-K72XEMPW1O5CN9EGAWRM/Tesar-Paul-headshot-SQ.jpg Doctors & Researchers - Dr. Paul Tesar, DPhil https://www.pmdfoundation.org/doctors-researchers/fatemi-ali monthly 0.5 2021-07-21 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/1555943043381-J4XKQK8ET5M10N563YT1/ali-fatemi.jpeg Doctors & Researchers - S. Ali Fatemi, MD https://www.pmdfoundation.org/doctors-researchers/eichler-florian monthly 0.5 2019-04-22 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/1555942497873-NOOK7DY1UY0A82EA1LX4/Eichler-Headshot.jpg Doctors & Researchers - Dr. Florian S. Eichler, MD https://www.pmdfoundation.org/doctors-researchers/bernard-genevieve monthly 0.5 2021-08-23 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/1555939288263-RNW5EVQLES88RW3CRZGS/193856_web.jpg Doctors & Researchers - Dr. Geneviève Bernard, MD, MSc, FRCPc https://www.pmdfoundation.org/doctors-researchers/hobson-grace monthly 0.5 2021-06-29 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/1624999611186-IL1CECR6Q0V9AH711ZE5/G+Hobson.jpg Doctors & Researchers - Dr. Grace Hobson, Ph.D. - Make it stand out Whatever it is, the way you tell your story online can make all the difference. https://www.pmdfoundation.org/doctors-researchers/category/Scientific+Advisory monthly 0.5 https://www.pmdfoundation.org/doctors-researchers/tag/Scientific+Advisory+Board monthly 0.5 https://www.pmdfoundation.org/doctors-researchers/tag/Scientific+Advisory+Committee+Board+Chair monthly 0.5 https://www.pmdfoundation.org/staff daily 0.75 2019-06-06 https://www.pmdfoundation.org/staff/category/Support+Staff monthly 0.5 https://www.pmdfoundation.org/what-is-pmld daily 0.75 2024-01-03 https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/1669822368263-9M0T4GCAU85UKT6361M6/shutterstock_1970912966-MOD.jpg What is PMLD? https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/4bda7e8c-2e75-4e27-a0a4-5accdb1d6959/PMLDLogo.png What is PMLD? - Make it stand out Whatever it is, the way you tell your story online can make all the difference. https://images.squarespace-cdn.com/content/v1/5c65847bab1a625acb418894/9436d813-e5b7-4e3d-817d-039a79a17033/PMLDLogo.png What is PMLD? - Make it stand out Whatever it is, the way you tell your story online can make all the difference.