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With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

The CLN3 gene may play a more crucial role than previously thought in the normal balance of cellular recycling processes and the degradation of important fatty molecules in nervous brain cells, a study suggests. The study titled, “Lysosomal proteome analysis reveals that CLN3-defective cells have multiple enzyme deficiencies…

Loss of the Tpp1 gene is associated with brain inflammation and nerve cell dysfunction, possibly due to oxidative stress — the cellular damage that occurs as a consequence of high levels of oxidant molecules — a mouse study says. The study, “Global Brain Transcriptome Analysis of a Tpp1 Neuronal Ceroid Lipofuscinoses…

Patients experiencing typical symptoms of late-infantile neuronal ceroid lipofuscinoses (LINCL) should be tested for the presence of genetic defects in CLN5 and CLN8, a study says. The findings of the study, “The Neuronal Ceroid Lipofuscinoses-Linked Loss of Function CLN5 and CLN8 Variants Disrupt Normal Lysosomal Function,” were published…

With an estimated 1.37 billion inhabitants, India will likely surpass China in five years as the world’s most populous country. That also means it will have more rare-disease patients than any nation. It already has more than twice as many as the 28-member European Union. Harsha K. Rajasimha, a genomics…

Scientists have discovered a new mutation in the CLN3 gene associated with Juvenile Batten disease. The study, “A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family,” was published in the International Journal of Neuroscience. Neuronal ceroid lipofuscinoses…

Three years of treatment with Brineura (cerliponase alfa) was seen to effectively and durably delay the progression of late infantile Batten disease, compared to its natural course, in an ongoing and long-term extension study, BioMarin announced.  These new results — focused on motor and language skills — demonstrate that Brineura, the first…

Substantial progress has been made by different academic and industry teams toward the development of effective therapies to treat Batten disease, a review study suggests. In addition, many of the research strategies being explored for one form of Batten might be useful for other Batten types and even other disorders. The…

High levels of a protein associated with Parkinson’s disease, called alpha-synuclein, may contribute to the progression of late infantile Batten disease, according to a recent study. The study, “Autophagy–lysosome pathway alterations and alpha-synuclein up-regulation in the subtype of neuronal ceroid lipofuscinosis, CLN5 disease,” was published in…

Madeline Collin, a 24-year-old activist with Gaucher disease, worries that patients like her will suffer deeply if Britain leaves the European Union (EU), as scheduled, at the end of this month. Collin is an expert on the subject. For her University of Bathdissertation, she analyzed Brexit’s long-term impact…