Girl with deadly inherited condition is cured with gene therapy on NHS
Teddi Shaw, from Northumberland, first recipient on health service of Libmeldy, world ’s most expensive drugA girl born with a rare and deadly genetic condition is expected to live a long and normal life after becoming the first person to be cured on the NHS with the help of a revolutionary gene therapy.Teddi Shaw was diagnosed with metachromatic leukodystrophy (MLD), an inherited condition that causes catastrophic damage to the nervous system and organs. Those affected usually die young.Continue reading... (Source: Guardian Unlimited Science)
Source: Guardian Unlimited Science - February 15, 2023 Category: Science Authors: Andrew Gregory Health editor Tags: NHS Health Society Northumberland UK news Source Type: news
Baby suffering from rare condition is saved by the world’s most expensive drug
Teddi Shaw receives a gene therapy treatment for rare deadly genetic condition called metachromatic leukodystrophy . (Source: Daily Express - Health)
Source: Daily Express - Health - February 14, 2023 Category: Consumer Health News Source Type: news
2022 Health Care Heroes: Dr. Paul Orchard develops life-saving gene therapy treatment
Dr. Paul Orchard made history Sept. 27, 2021, when his pediatric patient became the first person in the United States to receive life-saving gene therapy treatment for metachromatic leukodystrophy, a rare, progressive and generally fatal genetic disease. (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - June 17, 2022 Category: Biotechnology Authors: Brigitt Martin Source Type: news
'Absolutely heartbreaking': Mother's agony as daughter battles deadly disease - symptoms
A MOTHER in desperation is hoping that potentially life-saving treatment will be developed in time to save her 13-year-old daughter Aggie, who suffers from a severe yet rare form of TUBB4a-related leukodystrophy - a genetic disease that affects the central nervous system. (Source: Daily Express - Health)
Source: Daily Express - Health - May 22, 2022 Category: Consumer Health News Source Type: news
Tens of thousands could have 'incurable' disorder 'similar' to cerebral palsy - symptoms
HEALTH experts have warned that thousands could unknowingly suffer from a rare life-threatening disease. Although leukodystrophy has long been considered a rarity, researchers believe the number of people affected may be significantly higher than previously thought. Experts have now shared the key warning signs of the condition. (Source: Daily Express - Health)
Source: Daily Express - Health - February 9, 2022 Category: Consumer Health News Source Type: news
Toddler with frequent falls and neuroregression: imaging clues! - Sharawat IK, Dawman L, Panda PK.
Late infantile metachromatic leukodystrophy is an autosomal recessive disorder caused by a deficiency in the enzyme activity of Aryl sulfatase-A. The classical presentation is characterized by gait disturbance, frequent fall, toe walking, impaired swallowi... (Source: SafetyLit)
Source: SafetyLit - February 6, 2021 Category: International Medicine & Public Health Tags: Age: Infants and Children Source Type: news
How the ketogenic diet helped 5-year-old control his seizures
When Rebecca and Stuart Galbreath brought their twin boys Jake and Brody home, they quickly realized something wasn't quite right.
"When we'd go to take the twins' picture, Brody would look at the camera, but Jake would be looking off," recalls Rebecca. At first, they thought he might be blind. But he was also crying more than other babies and never slept.
An MRI prescribed by his neurologist at Atrium Health Cabarrus pinpoi nted the issue: Jake was suffering from leukodystrophy, a rare type of… (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - September 1, 2019 Category: Pharmaceuticals Authors: Atrium Health Source Type: news
How the ketogenic diet helped 5-year-old control his seizures
When Rebecca and Stuart Galbreath brought their twin boys Jake and Brody home, they quickly realized something wasn't quite right.
"When we'd go to take the twins' picture, Brody would look at the camera, but Jake would be looking off," recalls Rebecca. At first, they thought he might be blind. But he was also crying more than other babies and never slept.
An MRI prescribed by his neurologist at Atrium Health Cabarrus pinpoi nted the issue: Jake was suffering from leukodystrophy, a rare type of… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - September 1, 2019 Category: Biotechnology Authors: Atrium Health Source Type: news
What Causes Macrocephaly?
Discussion
“Macrocephaly is defined as [an occipitofrontal circumference or head circumference, OFC ] of > 2 standard deviations above the mean or above the 97th percentage for a given age, and gender, or when serial measurement shows progressive enlargement, crossing of one or more major percentiles, or when there is an increase in OFC > 2 cm/month in the first 6 months of life.” Megalencephaly is enlargement of the brain parenchyma. The OFC should be measured using a non-elastic tape which surrounds the head along the line of the glabella and posterior occipital protrusion.
There are ethnic differences...
Source: PediatricEducation.org - May 20, 2019 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news
Federal funding supports UB research on Krabbe Disease
The Hunter James Kelly Research Institute at the University at Buffalo has received $2.1 million in federal funding.
The five-year grant from the National Institutes of Health is geared toward research of Krabbe leukodystrophy, known as Krabbe Disease.
Krabbe Disease is a rare neurodegenerative disorder that typically manifests in the first few months of life and is often fatal. The Hunter James Kelly Research Institute, founded in 2004, is an initiative that was spearheaded by UB and the Hunter’s… (Source: bizjournals.com Health Care:Physician Practices headlines)
Source: bizjournals.com Health Care:Physician Practices headlines - March 26, 2019 Category: American Health Authors: Tracey Drury Source Type: news
IDIBELL researchers identify a new leukodystrophy in children and its potential cure
(IDIBELL-Bellvitge Biomedical Research Institute) The Neurometabolic Diseases research team at IDIBELL and CIBERER, led by Aurora Pujol, has uncovered a novel disease of children affecting the brain white matter -- the myelin sheath --, leading to severe incapacity and death in some cases. These defects were corrected by a treatment with fingolimod, a drug in use for multiple sclerosis which interferes with this pathway. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - January 10, 2019 Category: International Medicine & Public Health Source Type: news
Research in yeast leads to serendipitous finding about a central nervous system disorder
(Salk Institute) Researchers from the Salk Institute found that an important quality control mechanism in baker's yeast is closely connected to hypomyelinating leukodystrophy, a debilitating disease found in children. The findings could indicate a therapeutic approach for this rare disease, as well as for multiple sclerosis and other neurodegenerative diseases. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - September 14, 2018 Category: International Medicine & Public Health Source Type: news
Paul Tesar receives 2017 New York Stem Cell Foundation -- Robertson Stem Cell Prize
(New York Stem Cell Foundation) The New York Stem Cell Foundation (NYSCF) announced today that Paul Tesar, DPhil, is the 2017 recipient of the NYSCF -- Robertson Stem Cell Prize for his pioneering discovery of pluripotent epiblast stem cells and technologies to utilize pluripotent stem cells for discovery of new therapeutics for neurological disorders such as multiple sclerosis and pediatric leukodystrophies. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - October 24, 2017 Category: International Medicine & Public Health Source Type: news
Gene Therapy May Be Breakthrough for Boys with'Lorenzo's Oil' Disease
In study, treatment put brakes on the deadly neurological illness in most patients for 2 years Source: HealthDay Related MedlinePlus Pages: Genes and Gene Therapy, Leukodystrophies (Source: MedlinePlus Health News)
Source: MedlinePlus Health News - October 5, 2017 Category: Consumer Health News Source Type: news
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 its initials.
“Li...
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
