August 29, 2013 redOrbit Staff & Wire Reports Your Universe Online By creating a model of genetic code evolution, researchers have discovered new information about how RNA signaling could have developed into the near-optimal modern genetic code. Lead author Justin Jee, a doctoral student at NYU School of Medicine, and colleagues set out to account for the composition of the genetic code, which makes it possible for proteins to be constructed from amino acids with high specificity based on information stored in a RNA or DNA genome. Our model shows that todays genetic code probably resulted from a combination of selective forces and random chance, Jee said. His teams research, which they say could help explain the complexities of the origins of life, appears in the latest edition of the Journal of the Royal Society Interface. The translation process between nucleic acids and amino acids is largely universal a phenomenon the researchers refer to as mysterious and remarkable. The same code is shared in all types of organisms, ranging from bacteria to humans, and at the same time it is nearly perfect in terms of how well it is able to select the correct type of amino acids for specific … Continue reading →

Aug. 27, 2013 Joslin scientists, in collaboration with researchers from the Harvard School of Public Health and Italian research institutes, have identified a previously unknown genetic variant associated with an increased risk of coronary heart disease (CHD) in type 2 diabetic patients. This discovery has the potential to lead to the development of new treatments for CHD in diabetic patients. The findings appear in the Journal of the American Medical Association (JAMA). CHD is the leading cause of morbidity and mortality among diabetic patients. Diabetic individuals have a two- to threefold increased risk for CHD and two- to fourfold higher CHD morbidity and mortality rates. In people with diabetes, CHD occurs at a younger age. While overall mortality rates of CHD have been declining in the U.S., the number of CHD deaths in the diabetic population has escalated as the prevalence of the disease has increased. It has been known for years that genetic factors influence susceptibility to CHD in the general population. However, studies have suggested that the genetic factors related to CHD risk may be different in the diabetic population. Investigating genetic variants related to cardiovascular disease in diabetes is an active area of research in the Section … Continue reading →

Public release date: 27-Aug-2013 [ | E-mail | Share ] Contact: Todd Datz tdatz@hsph.harvard.edu 617-432-8413 Harvard School of Public Health Boston, MA A newly discovered genetic variant may increase the risk of heart disease in people with type 2 diabetes by more than a third, according to a study led by researchers at Harvard School of Public Health (HSPH) and Joslin Diabetes Center. It is the first genome-wide association study (GWAS) to identify a novel genetic variant associated with coronary heart disease (CHD) in people with type 2 diabetes, who have a two- to four-fold higher risk of heart disease compared with those without diabetes. The finding could lead to new interventions aimed at preventing or treating CHD among patients with type 2 diabetes. "This is a very intriguing finding because this variant was not found in previous genome-wide association studies in the general population," said lead author Lu Qi, assistant professor in the HSPH Department of Nutrition and assistant professor at the Channing Division of Network Medicine, Brigham and Women's Hospital. "This means that the genetic risk factors for cardiovascular disease may be different among those with and without diabetes." "The identification of this genetic variant opens up the … Continue reading →

Newswise Vanderbilt has added genetic screening for the drug tacrolimus to its personalize medicine pharmacogenomics program PREDICT. The new drug screening protocol was added following data that shows a single genetic variation largely impacts different dose requirements for patients. Tacrolimus is one of the most commonly prescribed drugs for organ transplant recipients and is essential for patients receiving new hearts, kidneys and other organ transplants because the drug suppresses the bodys immune system to prevent organ rejection. The drug however can have potentially harmful side effects if not used in precise amounts. Genetic testing through PREDICT offers important benefits to Vanderbilts patients due to the variance in individuals requirements for how much tacrolimus is needed to prevent organ rejection. PREDICT provides Vanderbilts patients a personalized pharmacologic profile tailored to each patient. Marketed as Prograf, tacrolimus has a narrow therapeutic window. If too little of the drug is used acute transplant rejection may occur. Too much can cause serious side effects, including a form of diabetes and squamous cell skin cancer. This is an example of a striking variation in genetics by ancestry, said Dan Roden, M.D., assistant vice chancellor for Personalized Medicine. For example, African Americans are more likely to … Continue reading →

Aug. 25, 2013 Of the over 1,900 errors already reported in the gene responsible for cystic fibrosis (CF), it is unclear how many of them actually contribute to the inherited disease. Now a team of researchers reports significant headway in figuring out which mutations are benign and which are deleterious. In so doing, they have increased the number of known CF-causing mutations from 22 to 127, accounting for 95 percent of the variations found in patients with CF. In a summary of their research to be published online in Nature Genetics Aug. 25, the scientists say that characterizing those additional mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene will not only bring certainty to families about a CF diagnosis or carrier status, but will also accelerate the design process for new drugs tailored to a particular mutation. There already is one such individualized drug on the market. "Since not all mutations cause disease, sequencing the DNA in both copies of your CFTR gene and finding an abnormality in one wouldn't tell us if you are a carrier for CF unless we knew if that abnormality causes CF," says Garry Cutting, M.D., professor of pediatrics in the McKusick-Nathans Institute … Continue reading →

Aug. 29, 2013 A Cleveland Clinic researcher has discovered a genetic mutation in a drug-resistant -- and often deadly -- form of prostate cancer. The mutation occurs in the androgen-synthesizing enzyme 3HSD1 in castration-resistant prostate cancer (CRPC), according to research published online today in Cell. This mutation enables the tumor to make its own supply of androgens, a hormone that fuels the growth of the prostate cancer. Prostate cancer requires a constant supply of androgens in order to sustain itself. The current standard of care for patients with metastatic prostate cancer is medical castration, the ability to interfere with the body's production of testosterone (androgens) using medications that disrupt the process. Oftentimes, metastatic prostate cancer flourishes despite the lack of testosterone in the bloodstream, creating CRPC. These tumors are able to exist without the body's supply of testosterone by creating androgens within the tumor cell; however, increased androgen synthesis has not yet been attributable to any known mutations. The Cleveland Clinic discovery shows that the 3HSD1 mutation makes this enzyme hyperactive to create androgens. "This discovery gives us the ability to identify molecular subtypes of prostate cancer known to resist treatment. By finding the mutated enzyme, we can now investigate … Continue reading →

GAITHERSBURG, Md. , Aug. 26, 2013 /CNW/ - GeneDx, one of the world's foremost genetic testing laboratories and a wholly-owned subsidiary of Bio-Reference Laboratories, Inc. (BRLI) has announced the launch of a comprehensive suite of genetic tests for inherited cancer, including a 26-gene panel for breast and ovarian cancer that includes BRCA1 and BRCA2 and next generation sequencing based multi-gene panels for colorectal cancer, pancreatic cancer, and endometrial cancer. GeneDx, the first commercial laboratory to utilize next generation sequencing technologies in a CLIA-environment, is among only a handful of commercial labs in the U.S. currently offering testing for inherited cancer. The laboratory will begin accepting specimens immediately. The test offerings include a rapid turn-around test of the BRCA1 and BRCA2 genes combining sequencing and deletion/duplication analysis; an Ashkenazi Jewish panel for the three common Ashkenazi Jewish founder mutations in BRCA1 and BRCA2; a 26-gene panel for breast and ovarian cancer; an 18-gene panel for pancreatic cancer; an 18-gene panel for colorectal cancer; and an 11-gene panel for endometrial cancer. The test panels, which are marketed as OncoGeneDx, also include a Comprehensive Cancer Panel of 35 genes. All panels include deletion/duplication assessment. The OncoGeneDx panels utilize the most current data on … Continue reading →

Newswise LOS ANGELES (Aug. 29, 2013) A Cedars-Sinai team of researchers led by principal investigator Dan Gazit, PhD, DMD, has been awarded a $5.18 million grant from Californias stem cell research agency to advance stem cell technologies in segmental bone defects, a complex medical problem caused by large portions of bone tissue loss. The research team will use the grant from the California Institute for Regenerative Medicine to develop a novel approach to treat segmental bone defects without grafting bone. Stem cells will be recruited to the fracture site using a collagen matrix and then a bone-forming gene will be directly delivered to the stem cells using an ultrasound pulse (see Figure 1). If successful, researchers will be able to proceed to clinical trials. Bone tissue, which provides major structural and supportive connective tissue to the body, can be lost due to cancer or trauma. When the edges of a fracture are close to each other, bone repair cells are capable of healing the injury. However, when a large piece of bone is missing, these cells cannot bridge the necessary gap for healing, resulting in the need for bone grafting the current gold-standard therapy. Bone grafting can be complicated because … Continue reading →