Mutation News and Research

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New diagnostic tool proves cost-effective in identifying rare genetic disorders

Mutations in a single gene can cause several types of developmental brain abnormalities that experts have traditionally considered different disorders. With support from the National Institutes of Health, researchers found those mutations through whole exome sequencing - a new gene scanning technology that cuts the cost and time of searching for rare mutations.

23 Aug 2010

Combination of 2 FDA approved drugs eliminate HIV infection

Researchers at the University of Minnesota Academic Health Center have identified two drugs that, when combined, may serve as an effective treatment for HIV.

21 Aug 2010

Research finds increased diagnostic activity among men with family history of prostate cancer

The brothers of men with prostate cancer are at an increased risk of prostate cancer diagnosis because of increased diagnostic activity and not necessarily because they carry a genetic mutation that increases risk of the disease, according to a study published online August 19 in The Journal of the National Cancer Institute.

20 Aug 2010

Scientists discover genetic flaw that causes facioscapulohumeral muscular dystrophy

Nearly two decades after they identified the specific genetic flaw that causes a common type of muscular dystrophy, scientists believe they have figured out how that flaw brings about the disease. The finding by an international team of researchers settles a longstanding question about the roots of facioscapulohumeral muscular dystrophy or FSHD.

20 Aug 2010

Deficiencies in DNA loop formation can cause multiple diseases: Research

The genes that are responsible for maintaining each cell type form DNA loops that link control elements for these genes. This surprising genome structure is generated and reinforced by two essential protein complexes that bridge the loops and contribute to proper gene regulation.

19 Aug 2010

Research shows mutation in Prox1 gene may lead to memory, learning problems

St. Jude Children's Research Hospital investigators showed a gene named Prox1 is a key player in normal development of a brain structure crucial for learning and memory and remains active throughout life, nurturing the cells vital for making new memories.This study focused on a small region of the hippocampus known as the dentate gyrus, a brain structure needed for memory and learning that is home to the subgranular zone where the neural stem cells destined to become granule cells are housed. The dentate gyrus is one of two regions of the adult brain where neural stem cells continue to produce the precursor cells that ultimately differentiate into neurons.

18 Aug 2010

Researchers develop genetically mutated stem cells for myelin research

Vanishing White Matter (VWM) disease is a devastating condition that involves the destruction of brain myelin due to a mutation in a central factor. To understand the disease and test potential treatments that could apply to other disorders, such as multiple sclerosis, Prof. Orna Elroy-Stein of Tel Aviv University's Department of Cell Research and Immunology is leading a scientific breakthrough by developing laboratory mice which carry the VWM mutation an important new tool.

18 Aug 2010

Study shows increase in IL-6 secretion can reduce Tarceva sensitivity to treat lung tumor cells

One of the most tantalizing developments in anti-cancer therapy over recent years has been the advent of targeted treatments, which have proven highly effective in holding aggressive cancers at bay in certain patients, although typically only for a limited period of time.

18 Aug 2010

Breast cancer accomplice discovered

Scientists have discovered an accomplice in breast cancer - a master control switch with the power to set off a cascade of reactions orchestrated by a cancer-causing gene (or oncogene) named Wnt1. This executive molecule and its modus operandi are reported in back-to-back papers featured on the cover of the August 15 issue of Cancer Research.

18 Aug 2010

Adult stem cells associated with poor prognosis of cancer: Research

Adult stem cells that are vital for airway repair in the lung but that persist in areas where pre-cancerous lesions are found are associated with a poor prognosis in patients who develop cancer, even those with early stage disease, researchers at UCLA's Jonsson Comprehensive Cancer Center have found.These adult stem cells are found in repairing areas after injury and also are found in pre-cancerous areas, suggesting that these cells may mutate and become cancer causing stem cells, making them a potential cell-of-origin for lung cancer and a possible target for prevention strategies and new targeted therapies.

18 Aug 2010

Cancer Institute of New Jersey expands 'Quality and Outcomes in Cancer Care Research Program'

Looking to gain further understanding about the impact of cancer on patients and families, The Cancer Institute of New Jersey (CINJ) is expanding its Quality and Outcomes in Cancer Care (QOCC) Research Program by welcoming nationally-recognized population science researcher Sharon Manne, PhD. Dr. Manne, who is the recipient of major grant awards from the National Institutes of Health (NIH) for her work in behavioral science, was most recently at the Fox Chase Cancer Center in Philadelphia. CINJ is a Center of Excellence of UMDNJ-Robert Wood Johnson Medical School.

17 Aug 2010

Study discovers multiple effects of SSRIs on cells

A new discovery about selective serotonin reuptake inhibitors (SSRIs) suggests that these drugs, which are used to treat mental health disorders like depression and anxiety, have multiple effects on our cells. In a research report published in the August 2010 issue of GENETICS, researchers used yeast cells to identify secondary drug targets or pathways affected by SSRIs. Such secondary pathways could help explain why different people taking the same drug may experience different effects, and could also lead to new types of drugs altogether.

17 Aug 2010

Jackson Laboratory to implement HighRes automated process for genotyping of laboratory mice

A highly accurate, automated process for managing the genotyping of laboratory mice is headed to Bar Harbor, Maine. In response to the increased demand for using transgenic mouse models and the requisite genotyping of such animals, The Jackson Laboratory will be implementing a HighRes Biosolutions automated process to improve the maintenance of their extensive and diverse mouse colonies.

17 Aug 2010

Zebrafish-yeast approach for studying copper deficiency, complex multifactorial diseases

Copper deficiency diseases can be devastating. Symptoms can range from crippling neurological degeneration in Menkes disease ,a classic copper deficiency disease to brittle bones, anaemia and defective skin pigmentation in gastric bypass patients. Unfortunately, very little is known about how the body uses this essential nutrient. Knowing that melanocytes (the cells that give rise to hair, skin and eye pigmentation) are dramatically affected by the effects of copper deficiency, Elizabeth Patton from the University of Edinburgh, UK, and other colleagues from UK and US based labs decided to find out how melanocytes metabolise copper.

17 Aug 2010

Experimental drug benefits women with advanced ovarian or breast tumours caused by BRCA gene faults

An experimental drug called olaparib has been shown to shrink tumours in women whose advanced cancers were caused by faults in their BRCA genes.

17 Aug 2010

Scientists identify possible therapeutic strategy for reducing leukemia risk from chemotherapy

A UCSF-led team has discovered at least one key reason why blood stem cells are susceptible to developing the genetic mutations that can lead to adult leukemia. Their finding also may explain, they say, why some other age-related hematological disorders develop.The study, reported in "Cell Stem Cell" and reviewed in Cell Stem Cell and Cell, opens a new frontier for studying the molecular underpinnings of adult leukemia.

17 Aug 2010

High exposure to estrogens may cause gall bladder cancer: Research

A very aggressive disease with a poor prognosis, gallbladder cancer may be connected to higher exposure to estrogens, according to a group of researchers at the University of Houston (UH). Dr. Jan--ke Gustafsson, Robert A. Welch Professor in UH's biology and biochemistry department, described his team's findings in a paper titled "Estrogen-dependent gallbladder carcinogenesis in LXRβ-/- female mice" appearing in a recent issue of the journal Proceedings of the National Academy of Sciences, one of the world's most-cited multidisciplinary scientific serials.

17 Aug 2010

Parkinson’s disease linked to genetic alteration of immune system: Study

Parkinson’s disease (PD), a severely crippling disease of the nerves and brain has been linked to genes that affect the immune system according to new research. In these patients the immune system may go awry attacking healthy tissues or failing to fight infections that leave people susceptible to the condition scientists say.

16 Aug 2010

Scientists discover new signaling pathway to reduce tumour growth in glioblastoma multiforme

Malignant gliomas are the most common subtype of primary brain tumor - and one of the deadliest. Even as doctors make steady progress treating other types of solid tumor cancers, from breast to prostate, the most aggressive form of malignant glioma, called a glioblastoma multiforme or GBM, has steadfastly defied advances in neurosurgery, radiation therapy and various conventional or novel drugs. But an international team of scientists, headed by researchers at the Ludwig Institute for Cancer Research (LICR) at the University of California, San Diego School of Medicine, reports in the August 15 issue of Genes & Development that they have discovered a new signaling pathway between GBM cells - one that, if ultimately blocked or disrupted, could significantly slow or reduce tumor growth and malignancy.

16 Aug 2010

Researchers discover genetic alterations responsible for Kabuki syndrome

Using a new, rapid and less expensive DNA sequencing strategy, scientists have discovered genetic alterations that account for most cases of Kabuki syndrome, a rare disorder that causes multiple birth defects and mental retardation. Instead of sequencing the entire human genome, the new approach sequences just the exome, the 1-2 percent of the human genome that contains protein-coding genes.

16 Aug 2010

Mutation News and Research

New diagnostic tool proves cost-effective in identifying rare genetic disorders

Combination of 2 FDA approved drugs eliminate HIV infection

Research finds increased diagnostic activity among men with family history of prostate cancer

Scientists discover genetic flaw that causes facioscapulohumeral muscular dystrophy

Deficiencies in DNA loop formation can cause multiple diseases: Research

Research shows mutation in Prox1 gene may lead to memory, learning problems

Researchers develop genetically mutated stem cells for myelin research

Study shows increase in IL-6 secretion can reduce Tarceva sensitivity to treat lung tumor cells

Breast cancer accomplice discovered

Adult stem cells associated with poor prognosis of cancer: Research

Cancer Institute of New Jersey expands 'Quality and Outcomes in Cancer Care Research Program'

Study discovers multiple effects of SSRIs on cells

Jackson Laboratory to implement HighRes automated process for genotyping of laboratory mice

Zebrafish-yeast approach for studying copper deficiency, complex multifactorial diseases

Experimental drug benefits women with advanced ovarian or breast tumours caused by BRCA gene faults

Scientists identify possible therapeutic strategy for reducing leukemia risk from chemotherapy

High exposure to estrogens may cause gall bladder cancer: Research

Parkinson’s disease linked to genetic alteration of immune system: Study

Scientists discover new signaling pathway to reduce tumour growth in glioblastoma multiforme

Researchers discover genetic alterations responsible for Kabuki syndrome

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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