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Updated: Oct 18, 2025
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
On the cusp of cures: Breakthroughs in Batten disease research
Jon J Brudvig1, Jill M Weimer1
1Pediatrics & Rare Diseases Group, Sanford Research, Sioux Falls, SD, USA; Discovery Science Division, Amicus Therapeutics, Inc, Philadelphia, PA, USA.
Abstract:
Batten disease is a family of rare, lysosomal disorders caused by mutations in one of at least 13 genes, which encode a diverse set of lysosomal and extralysosomal proteins. Despite decades of research, the development of effective therapies has remained intractable. But now, the field is experiencing rapid, unprecedented progress on multiple fronts. New tools are providing insights into previously unsolvable problems, with molecular functions now known for nine Batten disease proteins. Protein interactome data are uncovering potential functional overlap between several Batten disease proteins, providing long-sought links between seemingly disparate proteins. Understanding of cellular etiology is elucidating contributions from and interactions between various CNS cell types. Collectively, this explosion in insight is hastening an unparalleled period of therapeutic breakthroughs, with multiple therapies showing great promise in preclinical and clinical studies. The coming years will provide a continuation of this rapid progress, with the promise of effective treatments giving patients hope.
Insights
Batten disease research is rapidly advancing, revealing new insights into protein functions and cellular causes. This progress is accelerating the development of promising new therapies for this rare lysosomal disorder.
Area of Science:
- Neuroscience
- Genetics
- Biochemistry
Background:
- Batten disease is a group of rare, inherited lysosomal storage disorders.
- Caused by mutations in at least 13 genes, affecting lysosomal and extralysosomal proteins.
- Therapeutic development has been challenging despite extensive research.
Purpose of the Study:
- To highlight recent advancements in understanding Batten disease.
- To discuss the emergence of novel therapeutic strategies.
- To provide hope for patients through ongoing research.
Main Methods:
- Utilizing new molecular tools to identify protein functions.
- Analyzing protein interactome data to find functional links.
- Investigating cellular etiology and cell-type interactions in the central nervous system (CNS).
Main Results:
- Molecular functions are now understood for nine Batten disease proteins.
- Protein interactome data reveal potential functional overlaps.
- Cellular etiology studies elucidate CNS cell type contributions and interactions.
Conclusions:
- Recent breakthroughs in understanding Batten disease are driving therapeutic progress.
- Multiple therapies show significant promise in preclinical and clinical studies.
- Continued rapid advancements offer hope for effective treatments for Batten disease patients.
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