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The space between heartache and happiness: Two sons with adrenoleukodystrophy
The Rojas family at a recent visit to Boston Children’s. When Paul and Liliana Rojas talk about their life, they describe it in one of two ways — the way it was before their sons, 10-year-old Brandon and 7-year-old Brian, were diagnosed with ALD, and the way it is after. Their story is one of heartbreak — but also hope, in the form of a new clinical trial. Learn more about the results of the clinical trial, recently published in the New England Journal of Medicine, that halted the progression of Brian’s ALD. ALD is short for adrenoleukodystrophy, a debilitating brain disease that simply goes by...
Source: Thrive, Children's Hospital Boston - October 4, 2017 Category: Pediatrics Authors: Emily Williams Tags: Diseases & Conditions Our Patients’ Stories Research and Innovation adrenoleukodystrophy ALD clinical trial Dana-Farber/Boston Children's Cancer and Blood Disorders Center David Williams MD gene therapy Lorenzo's Oil New England Jour Source Type: news

What Causes Microcephaly?
Patient Presentation A 5-month-old male came to clinic for his health supervision visit and followup from his neonatal intensive care stay. He was born prematurely at 28 weeks gestation and his stay was complicated by a right sided Grade III intraventricular hemorrhage, a left-sided Grade IV intraventricular hemorrhage, neonatal seizures, respiratory distress and bronchopulmonary dysplasia, retinopathy of prematurity, acute kidney injury that had resolved, possible necrotizing enterocolitis incidents x 2, and herpes simplex encephalitis. He was on home oxygen, a nasogastric feeding tube because of aspiration risk and mult...
Source: PediatricEducation.org - September 25, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

$1.9 million NIH grant to Wayne State to research genetic disease that causes blindness
(Wayne State University - Office of the Vice President for Research) A team of Wayne State University researchers recently received a $1.9 million grant from the National Eye Institute of the National Institutes of Health to better understand leukodystrophies (LD) and genetic Leukoencephalopathies (gLE), rare genetic disorders affecting the white matter -- myelin -- in the central nervous system. Patients diagnosed with a leukodystrophy experience a gradual decline in development, including a progressive loss in gait, body tone, vision, hearing, swallowing and/or ability to eat. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - July 21, 2017 Category: Biology Source Type: news

Guest Post: A Cure for Ellie on Leukodystrophy-LBSL
Conversations and healthy debate about issues facing our industry and the health care system are critical to addressing some of today ’s challenges and opportunities. The Catalyst welcomes guest contributors, including patients, stakeholders, innovators and others, to share their perspectives and point of view. Views represented here may not be those of PhRMA, though they are no less key to a healthy dialogue on issues in health care today.We are pleased to host a Q&A with Beth McGinn, operator of “A Cure for Ellie,” a non-profit foundation named for her eight-year old daughter. A Cure for Ellie ...
Source: The Catalyst - March 2, 2017 Category: Pharmaceuticals Authors: Guest Contributor Tags: Rare Diseases Source Type: news

Genetics Home Reference: autosomal dominant leukodystrophy with autonomic disease
https://ghr.nlm.nih.gov/condition/autosomal-dominant-leukodystrophy-with-autonomic-disease (Source: NLM General Announcements)
Source: NLM General Announcements - September 13, 2016 Category: Databases & Libraries Source Type: news

Researchers track critical development in the young brain
A recent study combined two related but different imaging techniques to non-invasively track the rate at which nerve fibers in children's brains become wrapped in myelin. The work could lead to new findings about diseases like multiple sclerosis and leukodystrophies, in which the myelin sheath is damaged. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - May 6, 2016 Category: Science Source Type: news

An Ashkenazi-Jewish Founder Mutation in the Hikeshi GeneAn Ashkenazi-Jewish Founder Mutation in the Hikeshi Gene
This study of infants with a mutation of the Hikeshi gene suggests a link between leukodystrophy and abnormal heat-shock stress response. Journal of Medical Genetics (Source: Medscape Today Headlines)
Source: Medscape Today Headlines - March 21, 2016 Category: Consumer Health News Tags: Pathology & Lab Medicine Journal Article Source Type: news

February 29th is Rare Disease Day: 4 Reasons You Should Care
Before my daughter passed away from a rare disease I had never heard of "Rare Disease Day" and knew next to nothing about the impact rare disorders have on society. Over the past few years I have learned that rare diseases play a larger role in public health than most people realize and deserve consideration from the medical community, policy makers, and the general public. A rare disease is defined by the National Institute of Health (NIH) as any disease that affects less than 200,000 people at a given time. The last day in February is an internationally recognized day set aside to raise awareness of the impact...
Source: Science - The Huffington Post - February 26, 2016 Category: Science Source Type: news

Scott family's 3 children have Metachromatic Leukodystrophy
Leah and Shaun Scott, 27 and 30, of Norwich, were devastated to be told their children all have Metachromatic Leukodystrophy, a rare brain disorder that kills children within five years. (Source: the Mail online | Health)
Source: the Mail online | Health - December 16, 2015 Category: Consumer Health News Source Type: news

US-based CHOP launches a leukodystrophy centre for children
US-based Children's Hospital of Philadelphia (CHOP) has launched a Leukodystrophy Centre of Excellence for children with degenerative inherited white matter diseases. (Source: Hospital Management)
Source: Hospital Management - May 19, 2015 Category: Hospital Management Source Type: news

Breakthrough in understanding Canavan disease
Investigators have settled a long-standing controversy surrounding the molecular basis of an inherited disorder that historically affected Ashkenazi Jews from Eastern Europe but now also arises in other populations of Semitic descent, particularly families from Saudi Arabia. Canavan disease is a type of leukodystrophy that is an incurable and progressively fatal neurological condition. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - April 27, 2015 Category: Science Source Type: news

Meet Fireman Sam, swim in the sea and find a cure for my rare disease: Heartbreaking bucket list of terminally ill toddler who will gradually lose the ability to walk, talk, see or hear
Twenty-month-old Zach Parnaby from County Durham was diagnosed with the terminal disease Krabbe Leukodystrophy, which will gradually cause him to lose the ability to walk, talk, see or hear. (Source: the Mail online | Health)
Source: the Mail online | Health - March 5, 2015 Category: Consumer Health News Source Type: news

Metachromatic Leukodystrophy Therapeutics Clinical Trials Market...
This report provides elemental information and data relating to the...(PRWeb July 27, 2014)Read the full story at http://www.prweb.com/releases/2014-global-metachromatic/leukodystrophy-review/prweb12047502.htm (Source: PRWeb: Medical Pharmaceuticals)
Source: PRWeb: Medical Pharmaceuticals - July 27, 2014 Category: Pharmaceuticals Source Type: news

New advances in study of megalencephalic leukoencephalopathy
Several forms of leukodystrophies, genetic degenerative disorders that affect the myelin, are associated with vacuolization of myelin sheaths that enwrap axons of central neurons. Megalencephalic leukoencephalopathy (MLC), caused by mutations in MLC1 and GlialCAM, is a rare disease that entails this type of vacuoles. To date, there is not any treatment for patients. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - March 25, 2014 Category: Science Source Type: news

Tactics Can Cut Infection in Leukodystrophies
AUSTIN, Texas (MedPage Today) -- It may be possible to reduce care-related infections in children with leukodystrophies using standardized prevention efforts in the hospital setting, researchers reported here. (Source: MedPage Today Infectious Disease)
Source: MedPage Today Infectious Disease - November 4, 2013 Category: Infectious Diseases Source Type: news

HIV Virus Used As Vector To Get Gene Therapy Into Six Children
The HIV Virus can be used to treat two severe genetic diseases, according to two studies published in the journal Science. Researchers from the San Raffaele Telethon Institute for Gene Therapy (TIGET) in Milan, Italy, have revealed that the HIV virus can be used to treat metachromatic leukodystrophy, a disease impairing the fatty covering that acts as an insulator around nerve fibers and Wiskott-Aldrich Syndrome, an immune system deficiency reducing the ability to form blood clots... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - July 16, 2013 Category: Consumer Health News Tags: HIV / AIDS Source Type: news

Gene therapy using HIV helps children with fatal diseases, study says
Gene therapy researchers say they used a safe version of HIV to prevent metachromatic leukodystrophy and halt Wiskott-Aldrich syndrome in children.Italian researchers have used a defanged version of HIV to replace faulty genes — and eliminate devastating symptoms — in children suffering two rare and fatal genetic diseases. (Source: Los Angeles Times - Science)
Source: Los Angeles Times - Science - July 11, 2013 Category: Science Source Type: news

Genetics Home Reference: Pol III-related leukodystrophy
(Source: NLM General Announcements)
Source: NLM General Announcements - June 18, 2013 Category: Databases & Libraries Source Type: news

New Approach To Improving Treatment For Multiple Sclerosis And Other Conditions
Working with lab mice models of multiple sclerosis (MS), UC Davis scientists have detected a novel molecular target for the design of drugs that could be safer and more effective than current FDA-approved medications against MS. The findings of the research study, published online in the journal EMBO Molecular Medicine could have therapeutic applications for MS as well as cerebral palsy and leukodystrophies, all disorders associated with loss of white matter, which is the brain tissue that carries information between nerve cells in the brain and the spinal cord... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - May 21, 2013 Category: Consumer Health News Tags: Multiple Sclerosis Source Type: news

How Turning Down Synthesis Of A Protein Improves Nerve, Muscle Function In Common Neuropathy
A potential new treatment strategy for patients with Charcot-Marie-Tooth disease is on the horizon, thanks to research by neuroscientists now at the University at Buffalo's Hunter James Kelly Research Institute and their colleagues in Italy and England. The institute is the research arm of the Hunter's Hope Foundation, established in 1997 by Jim Kelly, Buffalo Bills Hall of Fame quarterback, and his wife, Jill, after their infant son Hunter was diagnosed with Krabbe Leukodystrophy, an inherited fatal disorder of the nervous system. Hunter died in 2005 at the age of eight... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - April 30, 2013 Category: Consumer Health News Tags: Neurology / Neuroscience Source Type: news

Skin Cells Turned Directly Into The Cells That Insulate Neurons In Mouse Model
Researchers at the Stanford University School of Medicine have succeeded in transforming skin cells directly into oligodendrocyte precursor cells, the cells that wrap nerve cells in the insulating myelin sheaths that help nerve signals propagate. The current research was done in mice and rats. If the approach also works with human cells, it could eventually lead to cell therapies for diseases like inherited leukodystrophies - disorders of the brain's white matter - and multiple sclerosis, as well as spinal cord injuries. The study was published online in Nature Biotechnology... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - April 17, 2013 Category: Consumer Health News Tags: Stem Cell Research Source Type: news

Study Using Cells Forged From Human Skin Shows Promise In Treating MS, Myelin Disorders
A study out today in the journal Cell Stem Cell shows that human brain cells created by reprogramming skin cells are highly effective in treating myelin disorders, a family of diseases that includes multiple sclerosis and rare childhood disorders called pediatric leukodystrophies. The study is the first successful attempt to employ human induced pluripotent stem cells (hiPSC) to produce a population of cells that are critical to neural signaling in the brain. In this instance, the researchers utilized cells crafted from human skin and transplanted them into animal models of myelin disease... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - February 11, 2013 Category: Consumer Health News Tags: Multiple Sclerosis Source Type: news

Cells forged from human skin show promise in treating multiple sclerosis, myelin disorders
Human brain cells created by reprogramming skin cells are highly effective in treating myelin disorders, a family of diseases that includes multiple sclerosis and rare childhood disorders called pediatric leukodystrophies. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - February 7, 2013 Category: Science Source Type: news

Cells forged from human skin show promise in treating MS, myelin disorders
(University of Rochester Medical Center) A study out today in the journal Cell Stem Cell shows that human brain cells created by reprogramming skin cells are highly effective in treating myelin disorders, a family of diseases that includes multiple sclerosis and rare childhood disorders called pediatric leukodystrophies. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - February 7, 2013 Category: Global & Universal Source Type: news