Chromosome News and Research

Latest Chromosome News and Research

First European CPGs for diagnosis and management of Wilson's disease

The first European Clinical Practice Guidelines (CPGs) for the diagnosis and management of Wilson's disease are published today by the European Association for the Study of the Liver (EASL) on the EASL website.

7 Feb 2012

Scientists search gene alterations in three-parent kids

Researchers from Australia want to find out if using the DNA of three parents will prevent children inheriting life-threatening diseases. They add that if the technique proves successful in preventing the transfer of mitochondrial DNA mutations from mothers to babies, then laws on the use of embryos will need to be changed to allow the procedure.

6 Feb 2012

Scientists identify genetic variant that increases risk of ischemic stroke

A genetic variant that increases the risk of a common type of stroke has been identified by scientists in a study published online in Nature Genetics today. This is one of the few genetic variants to date to be associated with risk of stroke and the discovery opens up new possibilities for treatment.

6 Feb 2012

Mental illness suspect genes are among the most environmentally responsive regulatory mechanisms

For the first time, scientists have tracked the activity, across the lifespan, of an environmentally responsive regulatory mechanism that turns genes on and off in the brain's executive hub.

3 Feb 2012

DNA-based prenatal blood test can also identify trisomy 13 and 18

A newly available DNA-based prenatal blood test that can identify a pregnancy with Down syndrome can also identify two additional chromosome abnormalities: trisomy 18 (Edwards syndrome) and trisomy 13 (Patau syndrome). The test for all three defects can be offered as early as 10 weeks of pregnancy to women who have been identified as being at high risk for these abnormalities.

3 Feb 2012

Cancer Genomics now available online

Genome Research publishes online and in print today a special issue entitled, "Cancer Genomics," highlighting insights gained form cutting-edge genomic and epigenomic analyses of cancer.

2 Feb 2012

Novartis' Gleevec receives FDA approval for use in patients with CD117-positive GIST

The U.S. Food and Drug Administration today granted Gleevec (imatinib) regular approval for use in adult patients following surgical removal of CD117-positive gastrointestinal stromal tumors.

1 Feb 2012

Newly discovered molecular pathway may explain how AML develops

Researchers at UC Santa Barbara have discovered a molecular pathway that may explain how a particularly deadly form of cancer develops. The discovery may lead to new cancer therapies that reprogram cells instead of killing them. The findings are published in a recent paper in the Journal of Biological Chemistry.

30 Jan 2012

Research Down Syndrome enters second year of national running program

Research Down Syndrome (RDS), a nonprofit foundation that is among the leading sources for funding of Down syndrome related cognitive research, is entering the second year of its national running program, Race for the Extraordinary, to help increase public awareness and funding for Down syndrome research. The mission of RDS is the development of safe and effective therapies to address the intellectual difficulties associated with Down syndrome.

30 Jan 2012

Researchers identify possible cause for loss of tumor suppressor genes

Researchers at Queen's University in Kingston, Canada have identified a possible cause for the loss of a tumour suppressor gene (known as PTEN) that can lead to the development of more aggressive forms of prostate cancer.

27 Jan 2012

HHMI honors EMBL Monterotondo researcher with International Early Career Scientist award

Rocio Sotillo, a staff scientist at the European Molecular Biology Laboratory (EMBL) in Monterotondo, is one of 28 outstanding young biomedical scientists who have been honoured with a Howard Hughes Medical Institute (HHMI) International Early Career Scientist award this year.

25 Jan 2012

Chromosome aberrations happen in pairs when it comes to cancer

A healthy genome is characterized by 23 pairs of chromosomes, and even a small change in this structure - such as an extra copy of a single chromosome - can lead to severe physical impairment. So it's no surprise that when it comes to cancer, chromosomal structure is frequently a contributing factor, says Prof. Ron Shamir of the Blavatnik School of Computer Science at Tel Aviv University.

24 Jan 2012

Artificial testes being developed to help infertile men produce sperm

Californian researchers are trying to create an artificial testicle that will produce human sperm. Dr. Paul Turek, director of the Turek Clinic in San Francisco, which specializes in male infertility, said the goal is not to create a testicular implant for men, but a “sperm-making biological machine” that will help scientists learn more about just what causes male infertility. “We’re trying to recreate the process of sperm production in a three-dimensional system,” Turek said. “Simple laboratory conditions can’t get it done in humans. Our concept is to actually recreate the testicle itself.”

22 Jan 2012

MSC-mediated RNAi transfer holds promise for Huntington's disease

A team of researchers at the UC Davis Institute for Regenerative Cures has developed a technique for using stem cells to deliver therapy that specifically targets the genetic abnormality found in Huntington's disease, a hereditary brain disorder that causes progressive uncontrolled movements, dementia and death.

20 Jan 2012

Inherited mutation links exploding chromosomes to cancer

An inherited mutation in a gene known as the guardian of the genome is likely the link between exploding chromosomes and some particularly aggressive types of cancer, scientists at the European Molecular Biology Laboratory (EMBL), the German Cancer Research Centre (DKFZ) and the University Hospital, all in Heidelberg, Germany, have discovered.

20 Jan 2012

Researchers reveal role of micronuclei in cancer process

They are the Robinson Crusoes of the intracellular world -- lone chromosomes, whole and hardy, stranded outside the nucleus where their fellow chromosomes reside. Such castaways, each confined to its own "micronucleus," are often found in cancer cells, but scientists haven't known what role, if any, they play in the cancer process.

20 Jan 2012

Study explains gender-related incidence of liver cancer

Men are four times more likely to develop liver cancer compared to women, a difference attributed to the sex hormones androgen and estrogen. Although this gender difference has been known for a long time, the molecular mechanisms by which estrogens prevent -- and androgens promote -- liver cancer remain unclear.

20 Jan 2012

Earlier detection of Fragile X syndrome made possible

Now families children with fragile X syndrome may have a chance of earlier detection and intervention. The Murdoch Children's Research Institute breakthrough could allow newborn screening of the world's most common cause of inherited developmental disability. The research findings were published in the journal Clinical Chemistry.

19 Jan 2012

Novel technique accurately maps gene-regulation proteins

A novel technique has been developed and demonstrated at Penn State University to map the proteins that read and regulate chromosomes -- the string-like structures inside cells that carry genes.

19 Jan 2012

GSA honors researchers, educators for distinguished service in the field of genetics

The Genetics Society of America (GSA) is pleased to announce the 2012 recipients of its five awards for distinguished service in the field of genetics. The recipients of these awards were nominated and selected by their colleagues.

19 Jan 2012