Mutation News and Research

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Targeted drugs should be aimed at mutations that develop early in blood cancer

The diagnosis of myelodysplastic syndrome, a blood cancer, often causes confusion. While some patients can be treated with repeated blood transfusions, others require chemotherapy, leaving some uncertainty about whether the syndromes actually are cancer.

15 Mar 2012

Doctors can use genetic profiling to more accurately predict patients with AML

Researchers have identified a set of genetic abnormalities in patients with acute myelogenous leukemia (AML) that doctors can use to more accurately predict patients' prognoses and select treatments that are most likely to benefit them.

15 Mar 2012

Mutated ATRX gene associated with advanced-stage neuroblastoma

Certain mutations of the gene ATRX were associated with age at diagnosis in children and young adults with advanced-stage neuroblastoma, a cancer that grows in parts of the nervous system, according to a study in the March 14 issue of JAMA.

14 Mar 2012

Potential new way to treat rare inherited metabolic disorders

A University of Michigan cell biologist and his colleagues have identified a potential drug that speeds up trash removal from the cell's recycling center, the lysosome.

14 Mar 2012

Researchers identify first gene mutation associated with chronic, often fatal form of neuroblastoma

Researchers have identified the first gene mutation associated with a chronic and often fatal form of neuroblastoma that typically strikes adolescents and young adults. The finding provides the first clue about the genetic basis of the long-recognized but poorly understood link between treatment outcome and age at diagnosis.

14 Mar 2012

Gene simultaneously protects against and also promotes cancer growth

Can a gene simultaneously protect against cancer and favor its growth? Researchers at the Spanish National Cancer Research Centre have discovered a gene with this double-edged property and suspect there may be many more that share it. In the words of Oscar Fernandez Capetillo, head of the group responsible for the study, this gene "can be both Dr. Jekyll and Mr. Hyde, in that it can either protect us against the appearance of tumors or promote tumor growth".

14 Mar 2012

Life-extending pill for advanced melanoma now available in UK

A life-extending pill for advanced melanoma that The Institute of Cancer Research (ICR) and The Royal Marsden Hospital helped develop is now available in the UK.

14 Mar 2012

World's tallest living man stops growing at 8ft 3 inches

Sultan Kosen has been named the world's tallest living man by Guinness World Records for three consecutive years. In the last three months, the 29-year-old Turkish man has only recently stopped growing thanks to receiving treatment in the U.S.

14 Mar 2012

Researchers crack problem of predicting gene targets for PcG proteins

Cancer is usually attributed to faulty genes, but growing evidence from the field of cancer epigenetics indicates a key role for the gene "silencing" proteins that stably turn genes off inside the cell nucleus. A new study from Rice University and Baylor College of Medicine promises to speed research in the field by rapidly identifying the genes that epigenetic proteins can target for silencing.

14 Mar 2012

Researchers discover over 500 genes that may contribute to pancreatic cancer

A global team led by scientists from The Methodist Hospital Research Institute has identified more than 500 genes that may cause or contribute to the development of pancreatic cancer.

13 Mar 2012

Researchers elucidate function of Codanin-1 protein

Within all our cells lies two meters of DNA, highly ordered in a structure of less than 10 micro meters in diameter. Special proteins called histones act as small building bricks, organising our DNA in this structure. Preservation of the structure is necessary to maintain correct function of our genes, making histones detrimental for maintaining a healthy and functional body.

13 Mar 2012

Human diseases with Drosophila counterparts discussed at annual conference

More than two-thirds of human genes have counterparts in the well-studied fruit fly, Drosophila melanogaster, so although it may seem that humans don't have much in common with flies, the correspondence of our genetic instructions is astonishing. In fact, there are hundreds of inherited diseases in humans that have Drosophila counterparts.

12 Mar 2012

New research could provide roadmap for more effective drug discovery for CF

A recent study led by Gergely Lukacs, a professor at McGill University's Faculty of Medicine, Department of Physiology, and published in the January issue of Cell, has shown that restoring normal function to the mutant gene product responsible for cystic fibrosis (CF) requires correcting two distinct structural defects. This finding could point to more effective therapeutic strategies for CF in the future.

12 Mar 2012

Two scientists receive The Brain Prize 2012 for pioneering work on hearing and deafness

The Grete Lundbeck European Brain Research Foundation announced today that The Brain Prize 2012 is jointly awarded to Christine Petit and Karen Steel.

12 Mar 2012

Tumors can be more complex than imagined earlier: Study

Researchers speculate that cancers may be more complex that they knew. And that's why a single tissue sample taken from a single tumor may not be the best way to figure out a course of treatment they claim.

11 Mar 2012

Five new genetic mutations linked with Crohn's disease in Ashkenazi Jews

In the largest study of its kind, researchers from Mount Sinai School of Medicine have discovered five new genetic mutations associated with Crohn's disease in Jews of Eastern European descent, also known as Ashkenazi Jews.

9 Mar 2012

Researchers identify specific gene linked with throat cancer

Researchers at King's College London and Hiroshima University, Japan, have identified a specific gene linked to throat cancer following a genetic study of a family with 10 members who have developed the condition.

8 Mar 2012

First ever analysis of genetic variation between different regions of same tumour

Taking a sample from just one part of a tumour may not give a full picture of its 'genetic landscape', according to a landmark study published in the New England Journal of Medicine.

8 Mar 2012

Scientists identify 2,000 important genes linked to singing

Can the song of a small bird provide valuable insights into human stuttering and speech-related disorders and conditions, including autism and stroke? New research by UCLA life scientists and colleagues provides reason for optimism.

8 Mar 2012

Doctors identify promising new treatment for hypophosphatasia

Doctors at Washington University School of Medicine in St. Louis, working with Shriners Hospital for Children and other institutions, have identified a promising new treatment for a rare and sometimes life-threatening bone disorder that can affect infants and young children.

8 Mar 2012