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Genetic mutation found to restore translational balance in mice

In a biological quirk that promises to provide researchers with a new approach for studying and potentially treating Fragile X syndrome, scientists at the University of Massachusetts Medical School (UMMS) have shown that knocking out a gene important for messenger RNA (mRNA) translation in neurons restores memory deficits and reduces behavioral symptoms in a mouse model of a prevalent human neurological disease.

21 Oct 2013

Study finds inherited GATA3 gene variation increases risk of developing pediatric leukemia

Research led by St. Jude Children's Research Hospital scientists has linked an inherited gene variation to a nearly four-fold increased risk of developing a pediatric acute lymphoblastic leukemia (ALL) subtype that is associated with a poor outcome.

21 Oct 2013

Study: Pds5 proteins modulate behavior of cohesins to ensure proper division of cells

Cohesins are protein complexes that join the two copies of each chromosome-called sister chromatids-to ensure that they are shared fairly between the daughter cells during cell division. In this way, each daughter cell receives exactly the same genetic information from the parent cell.

19 Oct 2013

Scientists examine different animal species to solve some of the riddles of human diseases

What do pigs, jellyfish and zebrafish have in common? It might be hard to discern the connection, but the different species are all pieces in a puzzle. A puzzle which is itself part of a larger picture of solving the riddles of diseases in humans.

18 Oct 2013

Gene variations in response to injury can impact clinical outcomes in TBI

Subtle variations in genes that regulate a person's inflammatory response to injury can impact clinical outcomes in TBI, according to a new study published in Journal of Neurotrauma.

18 Oct 2013

Research: Zebrafish exhibits same developmental issues as humans

Duke researchers have connected very rare and precise duplications and deletions in the human genome to their complex disease consequences by duplicating them in zebrafish.

18 Oct 2013

Study shows how two miRNAs regulate FOXP2 gene implicated in speech, language impairments

A study led by Xiaoching Li, PhD, at the LSU Health Sciences Center New Orleans Neuroscience Center of Excellence, has shown for the first time how two tiny molecules regulate a gene implicated in speech and language impairments as well as autism disorders, and that social context of vocal behavior governs their function.

18 Oct 2013

Researchers develop new microfluidic device that could speed monitoring of bacterial infections

There are good bacteria and there are bad bacteria -- and sometimes both coexist within the same species. Take, for instance, Pseudomonas aeruginosa, a microbe common in soil and water.

17 Oct 2013

Scientists identify recessive gene mutation that reduces certain protein affecting brain development

Though worlds apart, four unrelated families have been united in a medical mystery over the source of a rare inherited disorder that results in their children being born with abnormal brain growth and severe functional impairments.

17 Oct 2013

Researchers find 5-fold increase in high cholesterol risk

What leads to high cholesterol? Your genes and lifestyle factors may not explain it all. A study presented today at the Canadian Cardiovascular Congress has connected some of the risk for high cholesterol in adults to their mother's cholesterol levels before she even became pregnant.

17 Oct 2013

Scientists identify 127 mutated genes that appear to drive development of tumors in the body

Examining 12 major types of cancer, scientists at Washington University School of Medicine in St. Louis have identified 127 repeatedly mutated genes that appear to drive the development and progression of a range of tumors in the body. The discovery sets the stage for devising new diagnostic tools and more personalized cancer treatments.

17 Oct 2013

Researchers discover why women with BRCA gene develop breast and ovarian cancer

Researchers announced today in the journal Lancet Oncology that they are well on the way to discovering why women with the faulty genes BRCA 1 and BRCA 2, one of which was inherited by the actress Angelina Jolie, develop breast and ovarian cancer rather than other cancers.

17 Oct 2013