List/Grid

Tag Archives: Family

Applying math to biology: Software identifies disease-causing mutations in undiagnosed illnesses

Applying math to biology: Software identifies disease-causing mutations in undiagnosed illnesses

A computational tool developed at the University of Utah (U of U) has successfully identified diseases with unknown gene mutations in three separate cases, U of U researchers and their colleagues report in a new study in The American Journal of Human Genetics . The software, Phevor (Phenotype Driven Variant Ontological Re-ranking tool), identifies undiagnosed illnesses and unknown gene mutations by analyzing the exomes, or areas of DNA where proteins that code for genes are made, in individual patients and small families. Sequencing the genomes of individuals or small families often produces false predictions of mutations that cause diseases. Continue reading

Cave-dwelling fish examination finds possible genetic link to human disorders

Cave-dwelling fish examination finds possible genetic link to human disorders

Researchers have identified a genetic association with facial asymmetry in an ancient cavefish, a natural trait that may solve mysteries surrounding facial asymmetries in humans — conditions such as cleft palate or hemifacial microsomia. This exciting discovery by Joshua Gross, a University of Cincinnati assistant professor for the Department of Biological Sciences; and doctoral students Amanda Krutzler and Brian Carlson, is published in the research journal, Genetics . The researchers are studying the craniofacial features of the eyeless, cave-dwelling fish, Astyanax mexicanus, which has lived in the pitch-black caves of the Sierra de El Abra region of Mexico for millions of years. Continue reading

Twenty Years Later: How Breast Cancer Risk Genes are Changing Patient Care

Twenty Years Later: How Breast Cancer Risk Genes are Changing Patient Care

In the mid-1990s, scientists for the first time were able to isolate and clone the BRCA1 and BRCA2 genes, mutations in which were thought to increase susceptibility to early onset breast and ovarian cancers. A new Perspective published last week in Science takes a look back at the last twenty years to show how the identification of these genes set in motion a firestorm of research aimed at exploring how genetic information can be used to create both standards of care and strategies for all patients at a high-risk of developing cancer. Much has been learned over the last twenty years and now, Penn Medicine’s Basser Research Center for BRCA — the first and only comprehensive BRCA-focused center of its kind — is at the forefront of the next generation of research about genetics and cancer risk, methods for risk reduction and prevention, and new cancer treatment therapies. Continue reading

‘Step forward’ in skin cancer fight

‘Step forward’ in skin cancer fight

unable to retrieve full-text contentScientists say they have taken a step forward in understanding why some people are at greater risk of skin cancer because of their family history. Continue reading

Autism begins in pregnancy, according to study: Cortical layers disrupted during brain development in autism

Autism begins in pregnancy, according to study: Cortical layers disrupted during brain development in autism

Researchers at the University of California, San Diego School of Medicine and the Allen Institute for Brain Science have published a study that gives clear and direct new evidence that autism begins during pregnancy. The study will be published in the March 27 online edition of the New England Journal of Medicine . The researchers — Eric Courchesne, PhD, professor of neurosciences and director of the Autism Center of Excellence at UC San Diego, Ed S. Continue reading

Characteristics of lung cancers arising in genetic mutation carriers

Characteristics of lung cancers arising in genetic mutation carriers

Two studies are providing new insight into germline epidermal growth factor receptor ( EGFR ) T790M mutation in familial non-small cell lung cancer (NSCLC). The findings suggest the need for tailored approaches for early detection and treatment, as well as for genetic testing to identify carriers. Continue reading

Braking system for immune responses

Braking system for immune responses

For the first time, researchers have identified a receptor on human cells that specifically recognizes crystals. It is found on immune cells and binds uric acid crystals, which trigger gout but also control immune responses. The team, led by researchers from Technische Universität München (TUM)’s Klinikum rechts der Isar hospital have published their findings in the Immunity journal. Continue reading

Video-game device with goal of preventing patient falls

Video-game device with goal of preventing patient falls

Technology used in video games is making its way to hospital rooms, where researchers at the University of Missouri hope to learn new ways to prevent falls among hospital patients. Continue reading

Negative effects of joining a gang last long after gang membership ends

Negative effects of joining a gang last long after gang membership ends

Imagine two children, both with the exact same risk factors for joining a gang. As teenagers, one joins a gang, the other doesn’t. Even though the first teen eventually leaves the gang, years later he or she is not only at significantly higher risk of being incarcerated and receiving illegal income, but is also less likely to have finished high school and more likely to be in poor health, receiving government assistance or struggling with drug abuse. Continue reading

One out of two parents do not see their child’s weight problem

One out of two parents do not see their child’s weight problem

One out of two parents of children with overweight feel that their child’s weight is normal. Four out of ten parents of children with overweight or obesity are even worried that their child will get too thin. These are the findings of a European study of parents of more than 16,000 children, including 1,800 children from Sweden Continue reading