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Category: genetics – Page 99

Researchers at the Francis Crick Institute, UCL, and MSD have identified a potential treatment target for a genetic type of epilepsy.

Developmental and epileptic encephalopathies are rare types of epilepsy that start in early childhood. One of the most common types of genetic epilepsy, CDKL5 deficiency disorder (CDD), causes seizures and impaired development. Children are currently treated with generic antiepileptic drugs, as there aren’t yet any disease-targeting medications for this disorder.

CDD involves losing the function of a gene producing the CDKL5 enzyme, which phosphorylates proteins, meaning it adds an extra phosphate molecule to alter their function. Until now, researchers have not been sure how genetic mutations in CDKL5 cause CDD.

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Introduction to spatial genomics The power of single-cell resolution Mapping the blueprint of health Case study: Bio-Techne Challenges and future prospects References Further reading

Spatial genomics is a cutting-edge field that combines genomics and spatial analysis to investigate the role of genomic features in disease at single-cell resolution.

Spatial genomics is a field of study that focuses on analyzing the spatial organization of genomic features within intact tissues. It involves the simultaneous analysis of various molecular components, including genomic DNA and RNA, through transcriptomic analysis and epigenetic modifications within their spatial context. These techniques aim to reveal the spatial relationships between the different genomic elements and provide insights into the organization and function of single cells within tissues, enabling the molecular connection of a particular genotype to its phenotype.

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Researchers at the Francis Crick Institute, UCL and MSD have identified a potential treatment target for a genetic type of epilepsy.

Developmental and epileptic encephalopathies are rare types of epilepsy that start in early childhood. One of the most common types of genetic epilepsy, CDKL5 deficiency disorder (CDD), causes seizures and impaired development. Children are currently treated with generic antiepileptic drugs, as there aren’t yet any disease-targeting medications for this disorder.

CDD involves losing the function of a gene producing the CDKL5 enzyme, which phosphorylates proteins, meaning it adds an extra phosphate molecule to alter their function. Until now, researchers have not been sure how in CDKL5 cause CDD.

Read more | >

A University of Michigan-led study based on a review of genetic and health information from more than 276,000 people finds strong support for a decades-old evolutionary theory that sought to explain aging and senescence.

In 1957, evolutionary biologist George Williams proposed that genetic mutations that contribute to aging could be favored by natural selection if they are advantageous early in life in promoting earlier reproduction or the production of more offspring. Williams was an assistant professor at Michigan State University at the time.

Williams’ idea, now known as the antagonistic pleiotropy theory of aging, remains the prevailing evolutionary explanation of senescence, the process of becoming old or aging. While the theory is supported by individual case studies, it has lacked unambiguous genome-wide evidence.

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Biologist and genetics expert Dr. David Sinclair is out to prove he can live past 100 years old, and he thinks you can too. On this episode Sinclair goes in-depth on the process of aging and the techniques you can incorporate into your life that help you live a longer, healthier life, including optimizing your diet, the benefits of exercise, the role of a positive attitude, the importance of sleep, the three supplements he takes every day, why it’s never too late to slow the process of aging, and so much more.

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