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Phthalates, one of the most common endocrine disruptors, are commonly used by industry in many plastic products—toys, clothing, baby bottles or even medical equipment—as well as in cosmetics. If guidelines are beginning to be imposed to limit their use, their toxic effect on the endocrine system is worrying. Indeed, the exposure of male fetuses to […]
Specialized risk scores derived from testing that calculates the cumulative effect of an individual’s entire DNA sequence, the genome, may reliably predict heart disease in people who have not yet had a heart attack, according to new research in Circulation: Genomic and Precision Medicine, an American Heart Association journal. The study is the latest to […]
A close look at the rapidly developing zebrafish embryo is helping neuroscientists better understand the potential underpinnings of brain disorders, including autism and schizophrenia. Researchers at The Ohio State University were interested in understanding changes in neurological development that arise from a genetic defect associated with neurological disease—specifically, the loss of a gene called Protocadherin-19, […]
In a world first, researchers from The Australian National University (ANU) have shown previously ignored rare genetic mutations are a major cause of lupus. The discovery is set to change our understanding of the causes of disease and potentially save lives. Lupus is an autoimmune disease that has no cure. It targets the body’s healthy […]
Cleft lip and palate (CL/P) is the second most common birth defect in the world, affecting 1 in 700 live born babies. While the exact cause of CL/P is not well understood, investigators think it could be the result of a combination of genetics and environment. Cleft lip and palate are splits in the upper […]
Researchers have discovered a key clue into the development of the pancreas and brain by studying rare patients born without a pancreas. The study from the Wellcome Sanger Institute, the University of Exeter and collaborators also identified a previously unexpected pathway involved in the development of the human pancreas, and confirmed this in mice. Understanding […]
A study led by St. Jude Children’s Research Hospital has identified a novel risk variant associated with T cell acute lymphoblastic leukemia (T-ALL). The findings appear as an advance online publication in the Journal of the National Cancer Institute. “The inherited genetics underlying this rare type of leukemia were mostly unknown prior to our study,” […]
Mutations in the NUP160 gene, which encodes one protein component of the nuclear pore complex nucleoporin 160 kD, are implicated in steroid-resistant nephrotic syndrome, an international team reports March 25, 2019, in JASN. Mutations in this gene have not been associated with steroid-resistant nephrotic syndrome previously. “Our findings indicate that NUP160 should be included in […]
Asthma is a chronic lung disease that causes inflammation in the airways. This inflammation causes the airways to swell and become very sensitive. It can lead to wheezing and chest tightness. Asthma affects people of all ages and genders. According to the Centers for Disease Prevention and Control (CDC), 8.3 percent of people in the […]
(HealthDay)—An improved type 1 diabetes (T1D) genetic risk score (GRS), the T1D GRS2, is highly useful for classifying adult incident diabetes type and improving newborn screening, according to a study published in the February issue of Diabetes Care. Seth A. Sharp, from the University of Exeter Medical School in the United Kingdom, and colleagues analyzed […]