Rare yet debilitating disorders, Dravet syndrome, and other developing epileptic encephalopathies induce a variety of symptoms in children, such as seizures, intellectual incapacity, and even unexpected death.
The majority of cases are brought on by a genetic mutation; variations in the sodium channel gene SCN1A are most frequently the cause of Dravet syndrome in particular.
Another variation in SCN1B that results in an even more severe type of DEE is the target of recent study from Michigan Medicine.
Within three weeks of birth, mice lacking the SCN1B gene have seizures and die completely.
The research team, under the direction of Chunling Chen, M.D., and Yukun Yuan, M.D., Ph.D., in the laboratory of Lori Isom, Ph.D., of the Medical School’s Department of Pharmacology, investigated a gene therapy to replace SCN1B in order to boost the expression of
In the lab of Lori Isom, Ph.D., of the Medical School’s Department of Pharmacology, the research team, headed by Chunling Chen, M.D., and Yukun Yuan, M.D., Ph.D., tested a gene therapy to replace SCN1B in order to boost the expression of beta-1 protein, which is essential for the control of sodium channels in the brain, using mouse models.
When given to newborn mice, the treatment improved their survival rate, lessened the intensity of their convulsions, and restored the responsiveness of brain neurons.
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The group points out that the therapy may have varying effects depending on the type of SCN1B gene expression.
However, for SCN1B-linked developmental and epileptic encephalopathy, the proof-of-concept represents the initial stage of a gene replacement treatment.
Source: University of Michigan Medical School
Journal Reference: Chen, Chunling et al. “Neonatal but not Juvenile Gene Therapy Reduces Seizures and Prolongs Lifespan in SCN1B-Dravet Syndrome Mice.” The Journal of clinical investigation, e182584. 23 Jan. 2025, DOI: 10.1172/JCI182584.
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Graduated from the University of Kerala with B.Sc. Botany and Biotechnology. Attained Post-Graduation in Biotechnology from the Kerala University of Fisheries and Ocean Science (KUFOS) with the third rank. Conducted various seminars and attended major Science conferences. Done 6 months of internship in ICMR – National Institute of Nutrition, Hyderabad. 5 years of tutoring experience.
