Daily Archives: December 22, 2014

THE Newcastle Hospitals Northern Genetics Service has been confirmed as one of eleven national specialist centres to lead the way in conquering rare diseases.

The three-year 100,000 Genome Project, launched by the Prime Minister earlier this year, will transform diagnosis and treatment for patients with cancer and rare diseases.

The North-East and North Cumbria NHS Genome Medicine Centre (GMC) will be led by the Northern Genetic Service, based at the Institute of Genetic Medicine at the International Centre for Life in Newcastle.

The initiative involves collecting and decoding100,000 human genomes from NHS patients across England.

Being able to understand the complete set of a persons genes will enable doctors and scientists to understand more about specific conditions, particularly rare diseases and cancer.

Dr Paul Brennan, clinical director for the Northern Genetics Service said: This is an extremely exciting time for health care. When I became a consultant 12 years ago I wouldnt have even dreamed that routine whole genome sequencing would be possible within my career.

The most high profile recent example has been the BRCA1 and BRCA2 genes; women with particular changes in these genes have a higher chance of developing breast or ovarian cancer and can benefit from more intensive screening strategies or risk-reducing surgery.

In addition, women with a mutation in one of these genes who have cancer may now be eligible to receive new targeted medical treatments, developed in Newcastle.

We have also recently launched a region-wide service for families affected by Familial Hypercholesterolaemia (FH) a relatively common and treatable condition which causes high levels of cholesterol in the blood, increasing the risk of heart disease in those who do not receive treatment."

Recruitment to the project will begin in February 2015 and continue until the end of 2017.

Here is the original post:
Gene team will lead the fight against rare diseases

Sacramento, Calif. (PRWEB) December 22, 2014

Using modified human stem cells, a team of UC Davis scientists has developed an improved gene therapy strategy that in animal models shows promise as a functional cure for the human immunodeficiency virus (HIV) that causes AIDS. The achievement, which involves an improved technique to purify populations of HIV-resistant stem cells, opens the door for human clinical trials that were recently approved by the U.S. Food and Drug Administration.

We have devised a gene therapy strategy to generate an HIV-resistant immune system in patients, said Joseph Anderson, principal investigator of the study and assistant professor of internal medicine. We are now poised to evaluate the effectiveness of this therapy in human clinical trials.

Anderson and his colleagues modified human stem cells with genes that resist HIV infection and then transplanted a near-purified population of these cells into immunodeficient mice. The mice subsequently resisted HIV infection, maintaining signs of a healthy immune system.

The findings are now online in a paper titled Safety and efficacy of a tCD25 pre-selective combination anti-HIV lentiviral vector in human hematopoietic stem and progenitor cells, and will be published in the journal Stem Cells.

Using a viral vector, the researchers inserted three different genes that confer HIV resistance into the genome of human hematopoietic stem cells cells destined to develop into immune cells in the body. The vector also contains a gene which tags the surface of the HIV-resistant stem cells. This allows the gene-modified stem cells to be purified so that only the ones resistant to HIV infection are transplanted. The stem cells were then delivered into the animal models, with the genetically engineered human stem cells generating an HIV-resistant immune system in the mice.

The three HIV-resistant genes act on different aspects of HIV infection one prevents HIV from exposing its genetic material when inside a human cell; another prevents HIV from attaching to target cells; and the third eliminates the function of a viral protein critical for HIV gene expression. In combination, the genes protect against different HIV strains and provide defense against HIV as it mutates.

After exposure to HIV infection, the mice given the bioengineered cells avoided two important hallmarks of HIV infection: a drop in human CD4+ cell levels and a rise in HIV virus in the blood. CD4+ is a glycoprotein found on the surface of white blood cells, which are an important part of the normal immune system. CD4+ cells in patients with HIV infection are carefully monitored by physicians so that therapies can be adjusted to keep them at normal level: If levels are too low, patients become susceptible to opportunistic infections characteristic of AIDS. In the experiments, mice that received the genetically engineered stem cells and infected with two different strains of HIV were still able to maintain normal CD4+ levels. The mice also showed no evidence of HIV virus in their blood.

Although other HIV investigators had previously bioengineered stem cells to be resistant to HIV and conducted clinical trials in human patients, efforts were stymied by technical problems in developing a pure population of the modified cells to be transplanted into patients. During the process of genetic engineering, a significant percentage of stem cells remain unmodified, leading to poor resistance when the entire population of modified cells is transplanted into humans or animal models. In the current investigation, the UC Davis team introduced a handle onto the surface of the bioengineered cells so that the cells could be recognized and selected. This development achieved a population of HIV-resistant stem cells that was greater than 94 percent pure.

Developing a technique to purify the population of HIV-resistant stem cells is the most important breakthrough of this research, said Anderson, whose laboratory is based at the UC Davis Institute for Regenerative Cures. We now have a strategy that shows great promise for offering a functional cure for the disease.

Read this article:
New Technique for Bioengineering Stem Cells Shows Promise in HIV Resistance