Researchers Identify 5 New Mutations Linked to Form of Batten Disease
Researchers have identified five new mutations in the CLN8 gene — the genetic factor behind CLN8 disease, one of a group of conditions known ... Read more
Updates
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New Mouse Model of Late Infantile Batten Disease May Help Assess Potential Therapies
A new mouse model of late infantile Batten disease may help to efficiently investigate personalized therapies, a study suggests. The research, “A tailored mouse model ... Read more -
First Batten Disease Awareness Day a Milestone to Unite Global Community, Increase Knowledge
The inaugural International Batten Disease Awareness Day was launched on June 9 under the theme “Come Together.” It became a milestone to increase the global reach of ... Read more -
Neuron-Like Cells Derived from Patients May Offer Way to Better Understand and Treat Disease, Study Reports
Neuron-like cells derived from a Batten patient’s skin cells may be a suitable way of investigating the mechanisms behind the disease — and of being ... Read more -
Study Provides More Insight into Early Signs, Progression of CLN5 Disease
In children with late infantile neuronal ceroid lipofuscinosis 5 (CLN5), cognitive difficulties are early clinical markers of this condition, and severe mutations are associated ... Read more
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US ‘Right to Try’ Law Meets with Mix of Praise and Criticism, Including Among Those with Rare Diseases
As President Trump signed the recently passed Right to Try legislation into law in ... -
Clinical Evolution of Batten Disease in Young Adult Siblings Described in Case Report
Long-term follow-up of two siblings with Batten disease unveiled symptoms of slowly progressive motor deterioration, ... -
Protein in Specific Cells Involved in Batten Disease Neurodegeneration, Mouse Study Suggests
Therapeutic approaches that target production of a protein called progranulin in specific brain cells may help ... -
New Mutation Found in Newborn with Congenital Neuronal Ceroid Lipofuscinosis, Case Study Reports
A new mutation was identified in a baby girl with congenital neuronal ceroid lipofuscinosis ... -
‘Rare Impact Awards’ Dinner Marks Orphan Drug Act and NORD at 35
The National Organization for Rare Disorders (NORD) will celebrate the 35th anniversary of both ...