Lysosomal Storage Disorders News and Research

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Scientists discover molecular pathway that controls cellular waste recycling

For years, TFEB has been regarded as one of the most promising therapeutic targets for restoring the cell's ability to clear and recycle waste.

30 Sep 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 findings explain how lysosomal defects trigger neuronal energy failure

Together with colleagues from Stanford University, USA, researchers at the Leibniz Institute on Aging - Fritz Lipmann Institute (FLI) have, for the first time, created a comprehensive cell type-specific atlas of lysosomes in the brain, the cell organelles which are responsible for degradation and recycling processes.

23 Jan 2026

Scientists uncover excessive maturation and aging in the hippocampus

In a groundbreaking study, researchers at Fujita Health University and the Tokyo Metropolitan Institute of Medical Science have uncovered a previously overlooked form of brain abnormality linked to anxiety: excessive maturation and aging in the hippocampus, a state they term "hyper-maturity."

27 Oct 2025

Research shows how lysosomes respond to stress

New research, published today in the journal Science, shows how lysosomes - organelles that act like cells' waste disposal system - respond to stress by becoming abnormally bloated, a process called lysosomal vacuolation that is associated with numerous diseases.

21 Aug 2025

Targeted microglia replacement shows promise against fatal neurodegenerative conditions

Tay-Sachs and Sandhoff diseases, genetic disorders affecting the brain, have no effective treatment and are typically fatal within the first years of life.

6 Aug 2025

Protein identified as key to preventing fat build-up and related diseases

Accumulation of fat molecules is detrimental to the cell. Researchers from the Yong Loo Lin School of Medicine, National University of Singapore (NUS Medicine), have made a breakthrough in understanding how our cells manage to stay healthy by recycling important fat molecules.

11 Feb 2025

Study identifies a potential treatment for Sandhoff and Tay-Sachs diseases

In a groundbreaking study, researchers at McMaster University have identified a potential treatment for Sandhoff and Tay-Sachs diseases—two rare, often fatal lysosomal storage disorders that cause progressive damage to nerve cells in the brain and spinal cord.

14 Nov 2024

Liver trigger holds the key to boosting gene therapy success

Indiana University School of Medicine researchers have uncovered vital insights regarding a liver trigger that blocks an undesired immune response from gene therapy, surprisingly resulting in the activation of specific immune cells, despite the liver's typical role in suppressing immune responses.

7 Dec 2023

Stanford chemists uncover new pathway for protein degradation, opening door to new therapeutics

When targeting problem proteins involved in causing or spreading disease, a drug will often clog up a protein's active site so it can't function and wreak havoc.

25 Oct 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

Researchers provide a framework for unifying and categorizing neurodegenerative diseases based on eight hallmarks

Researchers presented eight hallmarks of neurodegenerative diseases (NDDs), their in vivo biomarkers, and interactions to help categorize NDDs and specify patients within a specific NDD.

21 Feb 2023

Duke scientists join team involved in the first use of fetal therapy for Pompe disease

Experts at Duke Health were among a multi-national team involved in treating a fetus for infantile-onset Pompe disease using an enzyme replacement therapy - a first in the world.

9 Nov 2022

Scientists reverse the effects of lysosomal storage disorders in patient cells and mice

Scientists at the Icahn School of Medicine at Mount Sinai in New York, the National Center for Advancing Translational Sciences (NCATS), and elsewhere have reversed the effects of several life-threatening inherited neurodegenerative diseases called lysosomal storage disorders (LSDs) in patient cells and mice.

9 Sep 2022

Study reveals a new molecular perspective to the cause of Gaucher's disease

A study by researchers at Baylor College of Medicine, the Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital and collaborating institutions is the first to associate neuronal activity to the levels of sphingolipids, a type of fat, in brain cells.

13 Jul 2022

A new combination therapy for treating rare, fatal Sanfilippo syndrome in children

A study aiming to develop a new therapeutic technique could bring a revolution in our approach to treating rare, fatal Sanfilippo syndrome, a disorder that affects children as young as 2 years old and leads to childhood dementia and premature death.

24 Feb 2021

Spark Therapeutics launches gene therapy clinical trial for late-onset Pompe disease

Pompe disease is a hereditary genetic disorder caused by a deficiency of acid alpha-glucosidase leading to build-up of glycogen in the lyosomes, which then causes cell damage in various tissues, in particular the heart, the muscles, the liver and the nervous system.

3 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

Scientists discover why the cells need acidic lysosomes

Just like the body contains lungs, liver, and lymph nodes, so does each of the body's cells contain tiny specialized organs. Perhaps most peculiar among them are lysosomes--bubble-like sacks that act as part recycling bin, part stomach.

23 Jan 2020

New research suggests another possible mechanism for Alzheimer’s

Neurofibrillary plaques and tau protein are among the most widely known pathological entities characterizing Alzheimer’s disease (AD), but new research at the University of California, Riverside, has come up with another plausible explanation for this debilitating disorder.

13 Aug 2019