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Gene mutation discovered that causes language impairment, ADHD and myasthenia

These new insights were made possible by exome analyses, in which scientists observe which genes are altered in a cell. The team also used the GeneMatcher database -- a platform on which researchers and physicians exchange information about mutations in genes and diseases associated with them.

Gene mutation discovered that causes language impairment, ADHD and myasthenia(Shutterstock)
Gene mutation discovered that causes language impairment, ADHD and myasthenia(Shutterstock)
Published on Sep 23, 2022 02:15 PM IST
ANI | | Posted by Tapatrisha Das, Washington

Krabbe Disease: Causes, symptoms, types, diagnosis and treatment

From the types of Krabbe disease to the symptoms to how the disease is diagnosed, know all about Krabbe disease from the experts here.

Krabbe Disease: Causes, symptoms, types, diagnosis and treatment(Unsplash)
Krabbe Disease: Causes, symptoms, types, diagnosis and treatment(Unsplash)
Updated on Jul 14, 2022 09:31 AM IST
ByTapatrisha Das, Delhi

Krabbe disease causes degeneration of neurons directly: Study

Krabbe disease is a rare autosomal recessive neurodegenerative disorder caused by mutations in the galactosylceramidase (GALC) gene. GALC is an enzyme that is active in the lysosomes, and its absence leads to the buildup of the lipid psychosine.

Krabbe disease causes degeneration of neurons directly: Study(Unsplash)
Krabbe disease causes degeneration of neurons directly: Study(Unsplash)
Published on Jul 06, 2022 11:37 AM IST
ANI | , Washington

Role of single gene linked to epilepsy, autism identified: Study

Researchers say the gene, DDX3X, forms a cellular machine called a helicase, whose job is to split open the hairpins and cul-de-sacs of RNA so that its code can be read by the protein-making machinery of the cell.

Role of single gene linked to epilepsy, autism identified: Study(ANI)
Role of single gene linked to epilepsy, autism identified: Study(ANI)
Published on Jun 29, 2022 01:55 PM IST
ANI |

Sickle cell disease: Doctors reveal causes, symptoms, preventive tips, treatment

Every year 10,000 new sickle cell disease cases are born in India, causing an ever-increasing burden on the society. The only way ahead is to prevent the birth of homozygotes by avoiding marriages between the carriers. Doctors reveal its causes, symptoms, preventive measures, treatment and therapies

Sickle cell disease: Doctors reveal its causes, symptoms, preventive measures, treatment and therapies (Twitter/EllenDomaeko)
Sickle cell disease: Doctors reveal its causes, symptoms, preventive measures, treatment and therapies (Twitter/EllenDomaeko)
Updated on Jun 20, 2022 03:41 PM IST
ByZarafshan Shiraz, Delhi
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