Batten Disease News and Research

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Batten disease (also known as Spielmeyer-Vogt-Sjögren-Batten disease) is a rare, fatal autosomal recessive neurodegenerative disorder that begins in childhood. It is the most common form of a group of disorders called neuronal ceroid lipofuscinosis (or NCLs).

Advances in chemistry and delivery are taking oligonucleotide medicines beyond rare diseases

A review in Cell Reports Medicine examines how advances in oligonucleotide chemistry and delivery have established ASOs and RNA interference therapies as a class of genetic medicines, with 21 oligonucleotides approved at the time of writing. It also identifies extrahepatic delivery, safety, target validation, individualized treatment, and data quality as priorities as the field expands into common diseases and explores AI-assisted development.

24 Sep 2026

New retina model reveals how CLN3-Batten disease damages vision

Researchers have developed a new way to study CLN3-Batten disease, a rare, inherited condition that causes early vision loss in children followed by progressive neurological decline.

26 Aug 2026

3D DNA organization in rare immune cells can explain Crohn's disease risk

A new study co-led by Prof. Valeriya Malysheva, group leader at the VIB-UAntwerp Center for Molecular Neurology, has been published in Nature Genetics.

4 Aug 2026

New genomic approach links rare immune cells to autoimmune disease risk

Much of how genetic risk leads to disease has remained hidden. In many cases, genetic variants linked to disease do not act on nearby genes along the chromosome.

4 Aug 2026

New atlas of brain lysosomes sheds light on neurodegenerative disorders

Functioning brain cells need a functioning system for picking up the trash and sorting the recycling. But when the cellular sanitation machines responsible for those tasks, called lysosomes, break down or get overwhelmed, it can increase the risk of Alzheimer's, Parkinson's, and other neurological disorders.

27 Jan 2026

New program launched to accelerate access to personalized therapies for children with rare conditions

Today, Wednesday 22 November, the government announced its support for the Rare Therapies Launch Pad, a new programme that will develop a pathway for children with rare conditions to access individualized therapies.

4 Dec 2023

Advancement of potential gene therapy could offer new hope for children with Batten disease

A new study shows that delivery of gene therapy to correct the gene mutations that cause CLN2 disease, or Batten disease, directly into the cerebrospinal fluid (CSF) has potential therapeutic effects.

28 Sep 2023

Study provides insights into the molecular mechanism of Batten disease

Neuronal Ceroid Lipofuscinosis are a group of devastating neurodegenerative lysosomal storage disorders that begin in childhood. Mutations in CLN3 gene lead to a NCL called Batten disease, characterized by the progressive loss of vision, movement, and cognition.

6 Jul 2023

Neural underpinnings of atypical visual sensory behaviors in some children with autism

There is this picture – you may have seen it. It is black and white and has two silhouettes facing one another. Or maybe you see the black vase with a white background. But now, you likely see both.

2 Mar 2023

Oxford-Harrington Rare Disease Centre hosts virtual event in honor of the upcoming Rare Disease Day

The Oxford-Harrington Rare Disease Centre, a partnership of the University of Oxford and Harrington Discovery Institute at University Hospitals, is hosting a virtual event on Monday, Feb. 27, 2023, in honor of the upcoming Rare Disease Day, which is celebrated across the globe on February 28 every year.

21 Feb 2023

Parents become drug developers to save their children’s lives

Maggie Carmichael wasn't developing like other kids. As a toddler, she wasn't walking and had a limited vocabulary for her age.

21 Jul 2022

Health care costs for people with rare diseases have been underestimated, study shows

A new, retrospective study of medical and insurance records indicates health care costs for people with a rare disease have been underestimated and are three to five times greater than the costs for people without a rare disease.

22 Oct 2021

Research shows how mutation linked with CLN3-Batten disease could lead to vision loss

Progressive vision loss, and eventually blindness, are the hallmarks of juvenile neuronal ceroid lipofuscinosis (JNCL) or CLN3-Batten disease.

8 Feb 2021

Gene therapy to the inner retina prevents blindness in mouse model of CLN3 Batten disease

Gene therapy to the inner retina prevented blindness in a mouse model of the neuro-degenerative disorder CLN3 Batten disease.

10 Aug 2020

Researchers develop new therapeutic approach to treat CLN3 Batten disease

Researchers led by a team at Rosalind Franklin University of Medicine and Science have devised a new therapeutic approach to treating a rare but deadly neurodegenerative genetic disease in children.

31 Jul 2020

Study unravels CNL6 mystery in Batten disease

Batten disease is a family of 13 rare, genetically distinct conditions. Collectively, they are the most prevalent cause of neurodegenerative disease in children, affecting 1 in 12,500 live births in the U.S. One of the Batten disease genes is CLN6.

29 Jun 2020

Research reveals key role of a protein in rare Batten disease

Professor Stéphane Lefrançois, a researcher at the Institut National de la Recherche Scientifique (INRS), is working on Batten disease, a neurodegenerative genetic disease that primarily affects children. His research focuses on the most common form of the disease - Batten CLN 3 - which is caused by mutations in the protein of the same name and for which there is still no cure.

28 Feb 2020

Custom-made oligonucleotide therapy for girl with fatal Batten disease

Sufferers of fatal Batten disease have been given new hope as scientists develop a custom-made oligonucleotide therapy for a young girl.

14 Oct 2019

Researchers develop customized drug treatment to bypass patient’s unique mutation

An unprecedented case at Boston Children's Hospital shows that it's possible to do something that's never been done before: identify a patient's unique mutation, design a customized drug to bypass it, manufacture and test the drug, and obtain permission from the Food and Drug Administration (FDA) to begin treating the patient -- all in less than one year.

11 Oct 2019

Study reveals connection between two proteins known to be hyperactive in cancer

A team of researchers at Baylor College of Medicine and Texas Children's Hospital has revealed a connection between mTORC1 and Src, two proteins known to be hyperactive in cancer.

20 Oct 2018