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Genetics and Birth Defects

Gene-editing technique offers hope for hereditary diseases

Salk scientists use molecular "scissors" to eliminate mitochondrial mutations in eggs and embryos ...

Minor gene mutations can produce extensive disruption of protein interactions, study finds

BOSTON –– For all but a few high-profile genes, the path by which genetic mutations lead to disease remains murky. In a ...

Sex, disease resistance linked to elite aging in study of oldest-living dogs

WEST LAFAYETTE, Ind. - To understand what it takes to live to be 100, scientists in the field of aging research have been enlisting help from the oldest-living humans. But a powerful observation - when it comes to aging and cancer, pets and people are in the same boat - is opening the door to a new research possibility: the oldest dogs as our greatest teachers. ... Full story

Scientists discover genetic cause of deadly rare disease ‘dyskeratosis congenita’

Researchers from Queen Mary University of London have uncovered a genetic defect which causes the life-threatening condition ‘dyskeratosis congenita’ (DC) – a rare genetic form of bone marrow failure. ... Full story

Twins experiment reveals genetic link with mosquito bites

The likelihood of being bitten by mosquitoes could come down to our genes, according to a study carried out on twins and co-authored by a University of Florida scientist. ... Full story

Preventing deformed limbs: new link found between physical forces and limb development

TORONTO, ON – University of Toronto engineers and a pediatric surgeon have joined forces to discover that physical forces like pressure and tension affect the development of limbs in embryos—research that could someday be used to help prevent birth defects. ... Full story

A higher than expected fraction of adolescent osteosarcoma patients carry a gene mutation that is often inherited

A new study shows that inherited variations in a known tumor suppressor gene among children and adolescents with osteosarcoma, a cancer of the bone, are more common than previously thought. Older patients who are also susceptible to this malignancy were not found to carry mutations in the gene, known as TP53. The study, finding that the genetic susceptibility to young onset osteosarcoma is distinct from older adult onset osteosarcoma, was published online April 20, 2015, in the Journal of the National Cancer Institute. Lisa Mirabello, Ph.D., of the National Cancer Institute’s (NCI) Division of Cancer Epidemiology and Genetics, led the research. NCI is part of the National Institutes of Health. ... Full story

New genetic mutation could signal start of malaria drug resistance in Africa

Plasmodium falciparumEarly indicators of the malaria parasite in Africa developing resistance to the most effective drug available have been confirmed, according to new research published in Antimicrobial Agents and Chemotherapy. ... Full story

Keck Medicine of USC-led study finds genetic predisposition for noise-induced hearing loss

Neuroscientists publish first genome-wide association study on hearing loss from noise, a common workplace hazard ... Full story

New function of obesity gene revealed

Scientists have discovered a previously unknown mechanism behind how the fat mass and obesity associated (FTO) gene promotes obesity. Their findings may have important implications for future therapeutic strategies to combat obesity. ... Full story

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