Genetic Disorder News and Research

RSS

A genetic disorder is a disease caused in whole or in part by a "variation" (a different form) or "mutation" (alteration) of a gene.

Advances in use of stem cells for tissue regeneration

A major issue in the development of regenerative medicine is the cell sources used to rebuild damaged tissues.

7 Nov 2008

Australian-led global initiative to improve diagnosis of genetic disorders

An Australian-led global initiative to improve the diagnosis of genetic disorders and reduce errors in the reporting of genetic variations has been published today in the prestigious scientific journal Science.

7 Nov 2008

Pycnodysostosis sheds light on enzyme's role in bone metabolism

Pycnodysostosis, a condition from which the painter Henri de Toulouse-Lautrec suffered, is a genetic disease characterized by short stature.

5 Nov 2008

Researchers look at direct-to-consumer genetic testing

What's your child's "genetic destiny?" Does diabetes run in your family? Or has a genetic test indicated that your child may some day be at risk for developing heart disease?

4 Nov 2008

Just one mutated SMAD4 allele is enough to cause cancer

Tumour suppressor genes do not necessarily require both alleles to be knocked out before disease phenotypes are expressed.

4 Nov 2008

Gleevec holds potential as first drug to successfully treat neurofibromatosis

Researchers at the Indiana University School of Medicine report that the anti-cancer drug Gleevec holds out promise to become the first effective treatment for neurofibromatosis, a genetic disease that has resisted treatments until now.

30 Oct 2008

Discovery of mechanism and possible drug treatment for growth of nerve tumors in neurofibromatosis

Researchers studying neurofibromatosis type 1 - a rare disease in which tumors grow within nerves - have found that the tumors are triggered by crosstalk between cells in the nerves and cells in the blood.

30 Oct 2008

Cancer requires support from immune system to develop, researchers report

Tumors that grow around nerves in a rare genetic disease need cooperation from cells from the immune system in order to grow, reports a team of scientists, including researchers from UT Southwestern Medical Center.

30 Oct 2008

Universal test for genetic diseases in unborn children in the pipeline

A team of British scientists have developed a ground-breaking new test to screen for genetic diseases in unborn children.

27 Oct 2008

Newly discovered mechanism can explain the Beckwith-Wiedemann syndrome

Researchers from Uppsala University have discovered a mechanism that silences several genes in a chromosome domain. The findings, published in today's on-line issue of Molecular Cell, have implications in understanding the human disorder Beckwith-Wiedemann syndrome.

26 Oct 2008

FDA licenses for marketing Cinryze for hereditary angioedema

The U.S. Food and Drug Administration today licensed for marketing the first product in the United States intended to protect people with hereditary angioedema (HAE), a rare and potentially life-threatening genetic disease. HAE affects about 6,000 to 10,000 individuals in the United States.

12 Oct 2008

Children with cystic fibrosis not well covered by guidelines for vitamin D needs

Existing recommendations for treating vitamin D deficiency in children with cystic fibrosis (CF) are too low to cover the serious need, leaving most at high risk for bone loss and rickets, according to researchers at Johns Hopkins Children's Center.

12 Oct 2008

Multiple sclerosis patients have higher spinal fluid levels of suspicious immune molecule

A protein that helps keep immune cells quiet is more abundant in the spinal fluid of patients with multiple sclerosis (MS), further boosting suspicion that the protein, TREM-2, may be an important contributor to the disease.

29 Sep 2008

Genetic fishing expedition yields surprising catch important to mammals

Johns Hopkins investigators report the discovery of master controllers of a gene critical to human and all mammalian development by trawling, implausibly enough, through anonymous genetic sequences using tiny zebrafish embryos.

21 Sep 2008

Migraine sufferers more at risk of deadly blood clots

According to new research migraine sufferers may be more at risk of developing deadly blood clots in their veins.

16 Sep 2008

Protein opens hope of treatment for cystic fibrosis patients

Scientists have finally identified a direct role for the missing protein that leaves cystic fibrosis patients open to attack from lung-damaging bacteria, the main reason most of them die before their 35th birthday, scientists heard today (Thursday 11 September 2008) at the Society for General Microbiology's Autumn meeting being held this week at Trinity College, Dublin.

10 Sep 2008

Scientists discover how mutation in the copper-regulating protein ATP7B causes Wilson disease

Using a combination of computer simulations and cutting-edge lab experiments, physical biochemists at Rice University have discovered how a small genetic mutation -- which is known to cause Wilson disease -- subtly changes the structure of a large, complex protein that the body uses to keep copper from building up to toxic levels.

19 Aug 2008

In-breeding in pedigree dogs means debilitating genetic diseases

Research in the UK by the BBC has revealed that pedigree dogs are being bred with debilitating genetic diseases and the culprit is the breeding process used to produce pedigree dogs.

19 Aug 2008

BioNanomatrix awarded NIH grant for nanoscale platform for single-molecule DNA mapping

BioNanomatrix, Inc. has announced receipt of a grant from the National Human Genome Research Institute of the U.S. National Institutes of Health (NIH). Under the direction of BioNanomatrix principal investigator Dr. Ming Xiao, the two-year $399,020 project will develop a nanoscale platform for single-molecule haplotyping imaging and analysis of long strands of DNA at ultra-high resolution in a massively parallel format.

6 Aug 2008

Unusual chromosomal changes increase the risk of schizophrenia

People with schizophrenia have an increased number of unusual chromosomal changes, particularly structural changes that have the potential to alter the function of the genes. These results were published today in the scientific journal Nature.

31 Jul 2008