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The CLN3 protein — the defective form of which underlies juvenile Batten disease — regulates several degradation and recycling processes within cells, mainly associated with a protein called Rab7A, a study found. The findings shed light on CNL3 functions and may help identify new therapeutic targets for…
Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…
Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those  looking to begin the complex process in its Feb. 20 webinar. William Whitman…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
Two new mutations in the DNA sequences of children with late infantile Batten disease, a type of neuronal ceroid lipofuscinoses (NCL), have been found by researchers in Saudi Arabia. The study with that finding, “Neuronal ceroid lipofuscinoses type 8: Expanding genotype/ phenotype diversity-first report from Saudi…
The U.S. Food and Drug Administration (FDA), a vast government bureaucracy, employs about 17,500 people and had a budget of $5.7 billion in 2019. Yet even with its enormous resources, the FDA these days relies more and more on patients to…
The gleaming new Dutch headquarters of the European Medicines Agency (EMA), fronting Domenico Scarlattilaan in Amsterdam’s suburban Zuidas business district, finally opened for business last month — just over two years after the European Union decided to relocate the EMA to the Netherlands in the wake of Brexit.
A previously unidentified variant of a gene associated with adult-onset Batten disease (ANCL) was found in an affected family after initial genetic tests failed, highlighting the difficulties in diagnosing this condition despite advances in DNA sequencing technology, a new study shows. The…
The stability of lysosomal proteins when tested in a laboratory setting is not equivalent to that observed in live cells, a study has found. This information should be considered when designing new protein versions to improve the effectiveness of enzyme replacement therapy for Batten disease. Results of…
Children with rapid and progressive vision loss — regardless of cognitive or behavioral problems — should be tested for CLN3 disease, the juvenile form of Batten disease, a study suggests. The researchers pointed out that blood film microscopy (where a blood drop is analyzed under microscope) is a fast, accessible,…
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