Potential modifier gene identified as cause of ciliary pathology in retinitis pigmentosa patient
Ciliopathies are rare diseases in which the formation or function of cilia, cylindrical-shaped extensions found on the surface of many cells, is altered. There is a high degree of ciliary specialization, ranging from motile ...
16 hours ago
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Large genomic study finds tri-ancestral origins for Japanese population
A multi-institutional team of geneticists and genomic and genotyping specialists in Japan has sequenced the genomes of thousands of Japanese people from across the country, looking to settle the debate surrounding the ancestry ...
Environment may influence metacognitive abilities more than genetics
Twin studies have proven invaluable for teasing out the effects of both genetics and the environment on human biology. In a study published April 2 in Cell Reports, researchers studied pairs of twins to look at how the interplay ...
Apr 18, 2024
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Mutations in noncoding DNA become functional in some cancer-driving genes
Some genes are known to drive cancer, and astonishing new research shows why: Mutations in the noncoding regions become functional, altering the abundance of messenger RNA, or mRNA, and potentially facilitating cell proliferation. ...
Apr 18, 2024
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Siblings with unique genetic mutation help scientists progress drug search for type 1 diabetes
Two siblings who have the only known mutations in a key gene anywhere in the world have helped scientists gain new insights that could help progress the search for new treatments in type 1 diabetes.
Apr 18, 2024
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Scientists uncover 95 regions of the genome linked to PTSD
In post-traumatic stress disorder (PTSD), intrusive thoughts, changes in mood, and other symptoms after exposure to trauma can greatly impact a person's quality of life. About 6% of people who experience trauma develop the ...
Apr 18, 2024
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Shape-shifting cancer cell discovery reveals potential skin cancer drug targets
Cancer cells can change shape to travel around the body and spread (metastasize), but how they know when to do this has remained elusive.
Apr 17, 2024
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Researchers discover how gut muscle can be vital for growth, repair and treatments
By discovering how a type of smooth muscle—which is essential for mechanical aspects of absorbing fats from food—forms in the gut, Cornell scientists have opened doors to making artificial muscle, repairing muscle following ...
Apr 17, 2024
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Genetic variants found in two types of strabismus, sparking hope for future treatment of eye condition
Determining how genetics contribute to common forms of strabismus has been a challenge for researchers. Small discoveries are considered meaningful progress.
Apr 17, 2024
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Electronic health records unlock genetics of tobacco use disorder
By analyzing electronic health records, researchers at the University of California San Diego School of Medicine have identified hundreds of new genes associated with tobacco use disorder. They also identified hundreds of ...
Apr 17, 2024
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Calorie restriction study reveals complexities in how diet impacts aging
Penn State researchers may have uncovered another layer of complexity in the mystery of how diet impacts aging. A new study led by researchers in the Penn State College of Health and Human Development examined how a person's ...
Apr 17, 2024
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Heritability for autism spectrum disorder varies for males and females, finds study
Heritability for autism spectrum disorder (ASD) varies for males and females, with higher heritability seen for males than females, according to a study published online April 17 in JAMA Psychiatry.
Apr 17, 2024
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Researchers discover cause of rare congenital lung malformations
Most rare diseases are congenital—including CPAM (congenital pulmonary airway malformations). These are airway malformations of the lungs that can lead to severe breathing problems in some affected newborns and can be associated ...
Apr 16, 2024
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Asthma in children: Researchers envision novel drug to reduce the risk of the disease
Scientists have reached a milestone in the research of childhood asthma. For the first time, they have clarified how a certain genetic defect in children initially leads to frequent infections and later to asthma. The study, ...
Apr 16, 2024
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Human muscle map reveals how we try to fight effects of aging at cellular and molecular levels
How muscle changes with aging and tries to fight its effects is now better understood at the cellular and molecular level with the first comprehensive atlas of aging muscles in humans.
Apr 15, 2024
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Researchers discover cause of a new rare genetic condition: Glutamine synthetase stabilization disorder
An international team of researchers has discovered what causes an unusual and incredibly rare genetic condition, giving hope to the families with it and others with related disorders.
Apr 15, 2024
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Study sheds light on the mechanisms underlying the development of malignant pediatric brain tumors
A study has revealed how aberrant epigenetic regulation contributes to the development of atypical teratoid/rhabdoid (AT/RT) tumors, which are aggressive brain tumors that mainly affect young children. There is an urgent ...
Apr 15, 2024
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Genomic deletions explain why some types of melanoma resist targeted therapies
Melanoma is the deadliest form of skin cancer. With global incidence rates rising, new, more effective treatments are necessary to alleviate the health burden of the disease. Important advances in recent years include doctors ...
Apr 12, 2024
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