Genetics
Dyslexia and ADHD share genetic links, study shows
Scientists have shed new light on the genetic basis of dyslexia, showing how it overlaps with that of attention deficit hyperactivity disorder (ADHD).
Sep 10, 2024
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News tagged with genetic syndromes
Genetics
AI accurately diagnoses genetic condition from facial photographs
A Yale School of Medicine team reports in a new study that an artificial intelligence (AI) model was able to reliably diagnose people living with Marfan syndrome from a simple facial photograph.
Aug 12, 2024
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Genetics
Skin may hold key to neurodevelopmental disorder diagnoses
A genetic diagnostic method using a small sample of skin from the upper arm could identify rare neurodevelopmental disorders in a non-invasive way, according to researchers at the University of Adelaide.
Jul 31, 2024
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Genetics
High-throughput variant reclassification aids Alagille syndrome diagnosis
Researchers from Children's Hospital of Philadelphia (CHOP) and the Perelman School of Medicine of the University of Pennsylvania (Penn Medicine) developed data designed to improve the diagnosis for Alagille syndrome, a complex ...
Jul 22, 2024
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Oncology & Cancer
DDX41 and its unique contribution to myeloid leukemogenesis
In an editorial paper published in Oncotarget titled, "DDX41 and its unique contribution to myeloid leukemogenesis," researcher Hirotaka Matsui from the National Cancer Center Hospital in Tokyo, Japan, and Kumamoto University ...
Jul 22, 2024
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Pediatrics
Bitter-taste vegetables in Asian diets may help reduce metabolic syndrome risk factors in children
Childhood obesity has become a significant health concern in Asian countries over recent decades, leading to a higher incidence of metabolic syndrome among children. Metabolic syndrome encompasses a cluster of conditions ...
Jul 16, 2024
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Genetics
Researchers identify molecule as potential treatment for Angelman syndrome
Angelman syndrome is a rare genetic disorder caused by mutations in the maternally-inherited UBE3A gene and characterized by poor muscle control, limited speech, epilepsy, and intellectual disabilities. Though there isn't ...
Jul 8, 2024
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Genetics
Q&A: Advanced genetic tools help researchers ID new neurodevelopmental syndrome
In a recent study, a Yale-led research team described for the first time a rare neurodevelopmental syndrome that begins affecting patients during infancy and typically causes developmental delays, severe seizures, cardiac ...
Jun 25, 2024
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Genetics
Building a blueprint of metabolic health—from mouse to human
Metabolic syndrome (MetS) is a health condition characterized by a group of risk factors: high blood pressure, high blood sugar, unhealthy cholesterol levels, and abdominal fat. These factors increase the risk of heart disease, ...
Jun 11, 2024
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Medical research
Fat molecule's inability to bond with shape-shifting protein in cell's powerhouse linked to inherited metabolic disease
By studying mutations in yeast and human cells, Johns Hopkins Medicine scientists say they have found that biochemical bonds between fats and proteins in the mitochondrion, the cell's powerhouse, play a crucial role in how ...
Jun 7, 2024
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