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Subtle mutation affecting epigenome may lead to inherited form of mental retardation: Researchers

A subtle mutation affecting the epigenome –- a set of dynamic factors that influence gene activity -- may lead to an inherited form of mental retardation that affects boys, find researchers at Children's Hospital Boston. The disorder, which also involves cleft lip or cleft palate, appears to hinge on an enzyme working in a biological pathway that may offer several potential drug targets.

12 Jul 2010

UM researcher uses computer algorithms to develop vaccines for new strains of influenza viruses

Defeating the flu is challenging because the virus responsible for the disease undergoes frequent changes of its genetic code, making it difficult for scientists to manufacture effective vaccines for the seasonal flu in a timely manner. Now, a University of Miami computer scientist, Dimitris Papamichail, and a team of researchers from Stony Brook University have developed a rapid and effective approach to produce vaccines for new strains of influenza viruses.

9 Jul 2010

Males with faulty BRCA2 genes at risk of breast cancer

Men who carry a faulty version of the BRCA2 gene have an estimated one-in-15 chance of developing breast cancer by the time they reach 70, British scientists have found.

9 Jul 2010

Research finding uncovers alternative treatments for people with hereditary colorectal cancer

By solving the three-dimensional structure of a protein involved in repairing DNA errors, a group of McMaster University researchers have revealed new avenues to develop assessment tools and alternative treatments for people living with hereditary colorectal cancers.

9 Jul 2010

New findings show why some people suffer from high levels of triglycerides

New findings reported in the July issue of Cell Metabolism, a Cell Press publication, are offering new leads as to why some people might suffer from high levels of triglycerides. High triglycerides are a risk factor for atherosclerosis and cardiovascular disease. They can also lead to inflammation of the pancreas, the researchers said.

8 Jul 2010

Olaparib shows promising results against inherited forms of breast and ovarian cancer

Olaparib, a new type of experimental drug called a PARP inhibitor, has shown promising results against inherited forms of breast and ovarian cancer in two small clinical trials led by scientists at the Breakthrough Breast Cancer Research Unit at King's College London.

8 Jul 2010

Scientists identify potential disease genes in humans and mice

An international consortium of scientists of Helmholtz Zentrum München and the University of Toronto has identified previously unknown potential disease genes in humans and mice. Genes on the X chromosome, which regulate embryonic development, are the focus of the current publication in the renowned journal Genome Research. Men have only one X chromosome, and therefore mutations on this chromosome disproportionately affect males, frequently leading to serious diseases such as hemophilia, muscular dystrophy and mental retardation.

7 Jul 2010

Alnylam Pharmaceuticals initiates dosing in Phase I human clinical study with ALN-TTR01

Alnylam Pharmaceuticals, Inc., a leading RNAi therapeutics company, announced today it has initiated dosing in a Phase I human clinical study with ALN-TTR01. The study is aimed at evaluating the safety and tolerability of ALN-TTR01 in patients with transthyretin -mediated amyloidosis, and is also designed to provide preliminary data on human proof of concept based on measurements of TTR serum levels.

7 Jul 2010

Slow rate of living and reduced energy metabolism is sufficient to increase longevity: Study

Don't put down the red wine and vitamins just yet, but if you're taking antioxidants because you hope to live longer, consider this: a new study published in the June 2010 issue of the journal GENETICS casts doubt on the theory that oxidative stress to our tissues shortens lifespan. That's because researchers from McGill University in Canada have identified mutations in 10 different genes of worms (genes believed to have counterparts in humans) that extend their lifespan without reducing the level of oxidative stress the worms suffer.

7 Jul 2010

Research findings could help save lives from sick sinus syndrome

The pioneering research, using detailed computer models, could help save lives through preventative treatment of those most at risk from a form of heart rhythm disorder called sick sinus syndrome.

From The University of Manchester 7 Jul 2010

Scientists demonstrate how neural stem cells, precursor cells control growth of glioblastomas

In their latest research, scientists of the Max Delbr-ck Center for Molecular Medicine Berlin-Buch, Germany, have demonstrated how the brain's own stem cells and precursor cells control the growth of glioblastomas. Of all brain tumors, glioblastomas are among the most common and most aggressive.

7 Jul 2010

Preclinical efficacy data of Sangamo's ZFN based human stem cell therapy for HIV published

Sangamo BioSciences, Inc. announced the publication of data demonstrating the preclinical efficacy of a human stem cell therapy for human immunodeficiency virus (HIV) based on its proprietary zinc finger DNA-binding protein nuclease (ZFN) technology.

6 Jul 2010

Novel therapy slows tumor growth in 85% of advanced breast cancer patients: Study

A novel therapy designed to attack tumors in patients with a genetic mutation in either BRCA1 or BRCA2, slowed tumor growth in 85 percent of advanced breast cancer patients treated in a small study, researchers report in the July 6 issue of The Lancet.

6 Jul 2010

First US forum gathers doctors and children who no longer need insulin

Twenty-five families who have overcome diabetes caused by a defect in a single gene will gather at "Celebrating the Miracles," a University of Chicago symposium for patients, parents and physicians. The first Monogenic Diabetes Forum is designed to review scientific studies, celebrate treatment successes, stress the importance of a genetic diagnosis for children diagnosed before age one, and exchange tips on how to make the most of a new concept--life without insulin injections.

3 Jul 2010

DNA damage caused by UVA radiation leads to melanoma

A new study by researchers at NYU School of Medicine found that UVA radiation damages the DNA in human melanocyte cells, causing mutations that can lead to melanoma. Melanocytes, which contain a substance called melanin that darkens the skin to protect it from the ultraviolet rays of the sun, are more vulnerable to UVA radiation than normal skin cells because they are unable to repair themselves as efficiently.

2 Jul 2010

Researchers identify gene abnormality for most common congenital birth defect, clubfoot

Although clubfoot is one of the most common congenital birth defects, few genetic causes have been found. Now, researchers at Washington University School of Medicine in St. Louis have found what they believe to be the most common cause of inherited clubfoot yet discovered.

2 Jul 2010

Cancer stem cells may vary from tumor to tumor, say researchers

Cancer stem cells have enticed scientists because of the potential to provide more durable and widespread cancer cures by identifying and targeting the tumor's most voracious cells.

2 Jul 2010

Scientists explain mechanism behind acute myeloid leukemia

New research by scientists at Cold Spring Harbor Laboratory (CSHL) has illuminated in fine detail one of the genetic paths that leads to a particularly aggressive form of leukemia.

2 Jul 2010

Mutations in Siglec-8 gene may play role in asthma: Research

A gene that encodes a protein responsible for determining whether certain immune cells live or die shows subtle differences in some people with asthma, a team led by Johns Hopkins researchers reports in the June European Journal of Human Genetics.

1 Jul 2010

Secondhand smoke exposure during pregnancy causes permanent genetic damage in newborns

Newborns of non-smoking moms exposed to secondhand smoke during pregnancy have genetic mutations that may affect long-term health, according to a University of Pittsburgh Graduate School of Public Health study published online in the Open Pediatric Medicine Journal. The abnormalities, which were indistinguishable from those found in newborns of mothers who were active smokers, may affect survival, birth weight and lifelong susceptibility to diseases like cancer.

1 Jul 2010

Mutation News and Research

Subtle mutation affecting epigenome may lead to inherited form of mental retardation: Researchers

UM researcher uses computer algorithms to develop vaccines for new strains of influenza viruses

Males with faulty BRCA2 genes at risk of breast cancer

Research finding uncovers alternative treatments for people with hereditary colorectal cancer

New findings show why some people suffer from high levels of triglycerides

Olaparib shows promising results against inherited forms of breast and ovarian cancer

Scientists identify potential disease genes in humans and mice

Alnylam Pharmaceuticals initiates dosing in Phase I human clinical study with ALN-TTR01

Slow rate of living and reduced energy metabolism is sufficient to increase longevity: Study

Research findings could help save lives from sick sinus syndrome

Scientists demonstrate how neural stem cells, precursor cells control growth of glioblastomas

Preclinical efficacy data of Sangamo's ZFN based human stem cell therapy for HIV published

Novel therapy slows tumor growth in 85% of advanced breast cancer patients: Study

First US forum gathers doctors and children who no longer need insulin

DNA damage caused by UVA radiation leads to melanoma

Researchers identify gene abnormality for most common congenital birth defect, clubfoot

Cancer stem cells may vary from tumor to tumor, say researchers

Scientists explain mechanism behind acute myeloid leukemia

Mutations in Siglec-8 gene may play role in asthma: Research

Secondhand smoke exposure during pregnancy causes permanent genetic damage in newborns

Achieving and maintaining ISO/IEC 27001 and BS 10012 certifications

Expanding research and clinical options for children with cancer

Examining how pain could play a direct protective role in the gut

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