News context:
According to a study published in the Orphanet Journal of Rare Diseases on 27 January 2026, India's first government-supported national Lysosomal Storage Disorders (LSD) biobank has been established; it is funded by the Department of Biotechnology (DBT), Government of India, and is linked to FRIGE/Institute of Human Genetics. This study was in media discussion in February 2026.
The study covers biological samples and clinical-genetic data of 530 patients (526 unrelated individuals and 2 sibling pairs) from a 17-year period, 2008 to 2025; they are from 15 states and are mostly child patients.
Disorder: deficiency of a lysosome enzyme; accumulation of toxic substances
Biobank: DBT-funded FRIGE; 530 patients, 27 disorders, 15 states
Use: a resource for diagnostic research; no guarantee of treatment
A sample store is the basis of research, not the treatment itself
Lysosomes and LSD:
A lysosome is a membrane-bound cell organelle containing digestive enzymes; it breaks down the cell's worn-out parts and substances. In LSD there is a deficiency of an enzyme or a defect in the substance that activates it, so toxic substances accumulate in cells.
According to the study, more than 70 LSDs are known; these are rare, inherited metabolic disorders. Most are of autosomal recessive inheritance, while MPS II and Fabry disease are X-linked recessive.
What Is in the Biobank:
The study group covers 27 disorders from 8 LSD subgroups; the most common are Gaucher disease (70), Tay-Sachs disease (62), Mucolipidosis II/III (44) and Morquio-A (40).
The samples include DNA from blood, plasma and urine sediment; each sample has been given a unique identification number, and clinical, enzyme and genetic data are linked on a centralised webpage (geneticcentre.org/lsdbiobank).
Scope and Limit:
The biobank is a basis for genotype-phenotype correlation, natural history analysis, and precision-medicine strategies suited to the Indian population; it complements efforts such as the ICMR rare-disease registry and the National Rare Disease Policy.
Keep the register clear: the biobank is a resource for research and diagnosis; it creates no guarantee that any patient will get treatment. The study states that enzyme-replacement and substrate-reduction therapies are expensive and their reach in India is limited.
Prelims: Practice Questions
Question 1. What is the basic defect in Lysosomal Storage Disorders (LSD)?
(a) The number of mitochondria increasing
(b) Accumulation of toxic substances in cells due to a deficiency/defect of a lysosome enzyme
(c) Overproduction of blood cells
(d) Complete inactivation of bone marrow
See answer and reason
Answer: (b). In LSD, toxic metabolic substances accumulate because of a deficiency of the lysosome's digestive enzyme or an enzyme-activator defect.
Question 2. According to the January 2026 study, consider the following statements:
Statement 1: The biobank is funded by the Department of Biotechnology (Government of India).
Statement 2: It includes samples from the period 2008 to 2025.
Statement 3: All enrolled patients will get free enzyme-replacement therapy from the biobank.
Which of the above statements are correct?
(a) Only 1 and 2
(b) Only 2 and 3
(c) Only 1 and 3
(d) 1, 2 and 3
See answer and reason
Answer: (a). 1 and 2 are in the study; the biobank is a research resource, and no announcement of free treatment is in the study - 3 is wrong.
Question 3. Which LSD was the most common in the study group (2008-2025)?
(a) Fabry disease
(b) Gaucher disease
(c) Pompe disease
(d) Hunter syndrome (MPS II)
See answer and reason
Answer: (b). In the group of 530 patients, Gaucher disease (70) was the most common, followed by Tay-Sachs (62), ML II/III (44) and Morquio-A (40).
Sources:
Orphanet Journal of Rare Diseases: national LSD biobank study, 27 January 2026
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