Neural stem cells derived from people with Batten disease can be used as a “disease model” to evaluate new treatment options for patients, according to researchers. Infantile neuronal ceroid lipofucinosis (INCL or CLN1) and late infantile NCL (LINCL or CLN2), all types of neuronal ceroid lipofuscinoses (NCLs, or Batten…
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Chinese researchers used an advanced genetic sequencing technique to identify two new pathogenic variants of the CLN8 gene in a boy with suspected neuronal ceroid lipofuscinosis (NCL), or Batten disease. Molecular diagnosis was delivered within three weeks, demonstrating the advantages of using genome sequencing for providing fast and…
A little-known government entity within the National Institutes of Health (NIH) is helping to lead U.S. efforts to speed up the development of therapies for some 7,000 rare diseases. The Office of Rare Diseases Research (ORDR), headquartered in Bethesda, Maryland, was established in 1993 within the NIH Office of the…
Gene therapy directly targeting a specific type of neuron in the retina of the eye was able to prevent vision loss in late infantile Batten disease caused by rare CLN6 genetic mutations in mouse models of the disease. The study, “…
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Loss of CLN7 Protein Contributes to Development, Progression of Batten Disease, Mouse Study Finds
Loss of a protein called CLN7 causes levels of multiple soluble lysosomal proteins to drop, contributing to the development and progression of Batten disease, a mouse model shows. The study, “Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation,” was published in the journal…
A 24-month campaign to raise $6 million toward curing juvenile Batten disease got a $70,000 pop in February, the Beyond Batten Disease Foundation announced in its March newsletter. The Be Project fund-raising effort, which started in 2016, is about $3.7 million, or two-thirds of the way, toward its goal, according to…
The inaugural issue of the the CRISPR Journal published an article focusing on the potentials of CRISPR gene therapy in Batten disease. In the study “CRISPR-Cas9-Mediated Correction of the 1.02 kb Common Deletion in CLN3 in Induced Pluripotent Stem Cells from Patients with Batten Disease,” researchers from the…
The U.S. Food and Drug Administration (FDA) has granted a rare pediatric disease designation to Abeona Therapeutics’ investigational ABO-202 program being developed for Batten disease caused by mutations in the CLN1 gene, also known as infantile neuronal ceroid lipofuscinosis. ABO-202 is an adeno-associated virus (AAV)-based gene therapy (AAV-CLN1) where weakened…
Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…
A genetically modified mouse with increased levels of a specific enzyme in the brain, along with a new genetic tool, may help researchers further their understanding of late infantile neuronal ceroid lipofuscinosis (CLN2) and aid in developing future therapies. The study, “Inducible transgenic expression of tripeptidyl peptidase 1…
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