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Tag Archives: Genetics

Severe scoliosis linked to rare mutations

Severe scoliosis linked to rare mutations

Children with rare mutations in two genes are about four times more likely to develop severe scoliosis than their peers with normal versions of the genes, scientists have found. The research at Washington University School of Medicine in St. Continue reading

Genotyping can predict disease outcomes in rheumatoid arthritis patients

Genotyping can predict disease outcomes in rheumatoid arthritis patients

New cohort studies presented today at the European League Against Rheumatism Annual Congress (EULAR 2014) have shown the amino acid valine at position 11 of HLA-DRB1 gene to be the strongest independent genetic determinant of radiological damage in rheumatoid arthritis (RA).1 In addition, positions 71 and 74 were found to represent independent predictors, with the three positions together: 11, 71 and 74 strongly associated with disease outcomes.1 According to lead author Dr Sebastien Viatte of the Arthritis Research UK Centre for Genetics and Genomics, Manchester, United Kingdom, “this major advance in genetics might allow stratification of RA patients at the onset of their disease to identify those at risk of joint damage and early death, and also those who are more likely to respond to anti-TNF biological therapy.” RA is a common chronic inflammatory autoimmune disease characterised by inflammation of synovial joints leading to damage to the inside of the joint and surrounding soft tissues. The cause of RA is largely unknown, but both environmental factors and genetic susceptibility appear to be involved. Although the prevalence of RA is relatively constant in most countries at between 0.5-1.0 percent, the higher occurrence among native American-Indian populations and very low occurrence in China and Japan supports the strong influence of genotype on the epidemiology.2 Previously, a group of alleles on the HLA DRB1 gene, known as the ‘shared epitope’ was thought to have the strongest effect on RA susceptibility. Continue reading

Viral infections, including flu, could be inhibited by naturally occurring protein

Viral infections, including flu, could be inhibited by naturally occurring protein

By boosting a protein that naturally exists in our cells, an international team of researchers led by the University of Pittsburgh Cancer Institute (UPCI), partner with UPMC CancerCenter, has found a potential way to enhance our ability to sense and inhibit viral infections. The laboratory-based discovery, which could lead to more effective treatments for viruses ranging from hepatitis C to the flu, appears in the June 19 issue of the journal Immunity Continue reading

Immune response affects sleep and memory

Immune response affects sleep and memory

Sickness-induced insomnia is common because of link between brain and immune system. Fighting off illness- rather than the illness itself- causes sleep deprivation and affects memory, a new study has found. University of Leicester biologist Dr Eamonn Mallon said a common perception is that if you are sick, you sleep more. Continue reading

Mitochondrial DNA of first Near Eastern farmers is sequenced for the first time

Mitochondrial DNA of first Near Eastern farmers is sequenced for the first time

The mitochondrial DNA of the first Near Eastern farmers has been sequenced for the first time. In the research, published in the journal PLOS Genetics , experts analysed samples from three sites located in the birthplace of Neolithic agricultural practices: the Middle Euphrates basin and the oasis of Damascus, located in today’s Syria and date at about 8,000 BC. The paper is signed by Daniel Turbón and Alejandro Pérez Pérez, from the Department of Animal Biology of the University of Barcelona (UB); Eva Fernández, from Liverpool John Moores University; Cristina Gamba, Eduardo Arroyo Pardo and Pedro Cuesta, from Complutense University of Madrid; Eva Prats, from the Spanish National Research Council, and Josep Anfruns and Miquel Molist, from the Universitat Autònoma de Barcelona (UAB). Continue reading

Courts face challenges when linking genetics to criminal behavior

Courts face challenges when linking genetics to criminal behavior

Studies suggest that some people may be at increased risk of criminal behavior due to their genes. Such research holds potential for helping judges and juries with some of the difficult decisions they must make, but it also brings a substantial risk of misinterpretation and misuse within the legal system. Addressing these issues will be of critical importance for upholding principles of justice and fairness, according to an essay being published in the June 4 issue of the Cell Press journal Neuron . Continue reading

Courts face challenges when linking genetics to criminal behavior

Courts face challenges when linking genetics to criminal behavior

Studies suggest that some people may be at increased risk of criminal behavior due to their genes. Such research holds potential for helping judges and juries with some of the difficult decisions they must make, but it also brings a substantial risk of misinterpretation and misuse within the legal system. Addressing these issues will be of critical importance for upholding principles of justice and fairness, according to an essay being published in the June 4 issue of the Cell Press journal Neuron . Continue reading

Subtle change in DNA, protein levels determines blond or brunette tresses, study finds

Subtle change in DNA, protein levels determines blond or brunette tresses, study finds

A molecule critical to stem cell function plays a major role in determining human hair color, according to a study from the Stanford University School of Medicine. The study describes for the first time the molecular basis for one of our most noticeable traits. Continue reading

Uncovering Clues to the Genetic Cause of Schizophrenia

Uncovering Clues to the Genetic Cause of Schizophrenia

The overall number and nature of mutations — rather than the presence of any single mutation — influences an individual’s risk of developing schizophrenia, as well as its severity, according to a discovery by Columbia University Medical Center researchers published in the latest issue of Neuron . The findings could have important implications for the early detection and treatment of schizophrenia. Maria Karayiorgou, MD, professor of psychiatry and Joseph Gogos, MD, PhD, professor of physiology and cellular biophysics and of neuroscience, and their team sequenced the “exome” — the region of the human genome that codes for proteins — of 231 schizophrenia patients and their unaffected parents Continue reading

Insights into genetics of cleft lip

Insights into genetics of cleft lip

Scientists at the European Molecular Biology Laboratory (EMBL) in Heidelberg, have identified how a specific stretch of DNA controls far-off genes to influence the formation of the face. Continue reading