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.

Currently, prenatal diagnosis of genetic diseases and genetic monitoring of fetal development require invasive procedures. New data generated by Jill Maron and colleagues, at Tufts — New England Medical Center, Boston, has indicated that it might be possible to perform these processes non-invasively.

According to a study in Evolution, resistance to certain infectious diseases may be passed genetically from parent to child. The genetic resistance may be beneficial to families as those with the gene are both unlikely to suffer from disease and unlikely to carry the disease home.

Researchers at BRIC, University of Copenhagen, have identified a new gene family (UTX-JMJD3) essential for embryonic development. The family controls the expression of genes crucial for stem cell maintenance and differentiation, and the results may contribute sig-nificantly to the understanding of the development of cancer.

A review of previous research suggests that prominent claims of sex differences of gene-disease associations are often insufficiently documented and validated, according to an article in the August 22/29 issue of JAMA.