Researchers from CIC bioGUNE's Structural Biology Unit and Columbia University (New York) have conducted a joint research project, published in the prestigious scientific journal Structure, to gain in-depth knowledge of the structure of pyruvate carboxylase when it is in solution (in the "natural" state).

Genetic diseases and genetically mixed populations can help researchers understand human diversity and human origins according to a Penn State physical anthropologist.

Cancer is a genetic disease. It occurs when changes take place in the genes that regulate cell division, cell growth, cell death, cell signalling and blood vessel formation – either due to mutations caused by external factors such as smoking or radiation – or due to inherited changes.

Tomislav Domazet-Lošo and Diethard Tautz from the Max Planck Institute for Evolutionary Biology in Plön, Germany, have systematically analysed the time of emergence for a large number of genes - genes which can also initiate diseases.

Model is expected to help researchers better understand the disease and develop more effective therapies as well as lead the way toward transgenic nonhuman primate models of other genetic diseases

Fully mature, differentiated B cells can be reprogrammed to an embryonic-stem-cell-like state, without the use of an egg according to a study published in the April 18 issue of Cell.

Much less widely known than the dangerous consequences of iron deficiencies is the fact that too much iron can also cause problems. The exact origin of the genetic iron overload disorder hereditary hemochromatosis [HH] has remained elusive. In a joint effort, researchers from the European Molecular Biology Laboratory [EMBL] and the University of Heidelberg, Germany, have now discovered that HH is a liver disease.

A study led by McGill University researchers has demonstrated that small differences between individuals at the DNA level can lead to dramatic differences in the way genes produce proteins.

Human evolution has created enhancements in key genes connected to the p53 regulatory network – the so-called guardian of the genome – by creating additional safeguards in human genes to boost the network’s ability to guard against DNA damage that could cause cancer or a variety of genetic diseases, an international team of scientists led by Cincinnati Children’s Hospital Medical Center writes in the Jan. 22 Proceedings of the National Academy of Sciences.

A rapid and accurate DHPLC assay for determination of apolipoprotein E genotypes has been developed by researchers from the Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China. This assay combines PCR and DHPLC and can be used to conduct efficient genotyping of the human population, which in turn will help in the diagnosis and treatment of Alzheimer’s disease.

The Stowers Institute’s Pourquié Lab has demonstrated the role of fibroblast growth factor (FGF) in the embryonic process of somitogenesis, an event required for vertebrae formation, in a paper posted to the Web site of the journal Development. The paper will appear in the November print issue of the journal.

By targeting a site in a mouse brain well connected to other areas, researchers successfully delivered a beneficial gene to the entire brain—after one injection of gene therapy. If these results in animals can be realized in people, researchers may have a potential method for gene therapy to treat a host of rare but devastating congenital human neurological disorders, such as Tay-Sachs disease.