children

NUS researchers discover a new way to interpret unresolved Mendelian diseases

The development of an embryo is a well-orchestrated series of processes that ensure the correct formation and positioning of vital organs of the growing organism. At the molecular level, these processes are precisely controlled by switching certain factors such as genes or proteins on or off. Any errors in these processes can lead to physical …

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NUS study sheds new light on unresolved childhood genetic diseases

Newswise – The development of an embryo is a well-orchestrated series of processes, which ensure the correct formation and positioning of vital organs of the growing organism. At the molecular level, these processes are precisely controlled by switching certain factors such as genes or proteins on or off. Any errors in these processes can lead …

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Novel Genetic Associations in Pediatric NAFLD Affect Both Risk and Severity

Newswise – In a pair of overlapping studies, a diverse team of researchers, led by scientists at the University of California San Diego School of Medicine, has deepened research into the genetic origins of non-alcoholic fatty liver disease (NAFLD) in children, identifying multiple gene variants. (including some previously unknown) that contribute to the risk of …

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Molecular tumor profiling in pediatric cancer patients has a significant impact on clinical care

Results from a molecular tumor profiling study in young patients revealed a high degree of genetic alterations potentially impacting clinical care, including clarifying diagnoses and treatment with matched, accurate cancer drugs. Report in naturopathyResearchers at the Dana-Farber/Boston Children’s Cancer and Blood Disorders Center said that molecular profiling of solid tumors found clinically significant genetic variations …

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Researchers model a complex childhood disease on a chip

Millions of children in low- and middle-income countries suffer from environmental enteric dysfunction (EED), a chronic inflammatory disease of the gut that is the second leading cause of death in children under the age of five. EED is a devastating condition associated with malnutrition, stunted growth and poor cognitive development, with a lasting impact on …

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Stroke Study Reveals High Frequency of Mendelian Disorders

The study covered in this summary is published as a preprint on medrxiv.org and has not yet been peer-reviewed. Key learning points Exome sequencing (ES) is helpful in evaluating heart attack patients, especially younger patients less than 1 year of age. Because of the different etiologies of stroke, patients are more likely to benefit from …

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