Genetic Disorder News and Research

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

New understanding of exaggerated mucous production and secretion in cystic fibrosis

A London, Canada scientist studying cystic fibrosis (CF) has successfully corrected the defect which causes the overproduction of intestinal mucous in mice.

29 Jul 2008

Researchers find key mechanism of cell damage in aging and disease

Researchers have taken a first snapshot of how a class of highly reactive molecules inflicts cellular damage as part of aging, heart disease, stroke, cancer, diabetes, kidney disease and Alzheimer's disease to name a few. According to a study published today in the journal Cell, researchers have discovered a tool that can monitor related damage and determine the degree to which antioxidant drugs effectively combat disease.

24 Jul 2008

Apert's syndrome - new discovery

In a cruel irony, testis cells carrying the mutation that causes Apert's syndrome are fitter than normal cells, even though children born from sperm derived from those cells are weakened by fused fingers, toes and skulls, a new study has found.

14 Jul 2008

Advances in RNA research

RNA, the transporter of genetic information within the cell, has emerged from the shadow of DNA to become one of the hottest research areas of molecular biology, with implications for many diseases as well as understanding of evolution. But the field is complex, requiring access to the latest equipment and techniques of imaging, gene expression analysis and bioinformatics, as well as cross-pollination between multiple scientific disciplines.

10 Jul 2008

A micro-sized sewing machine for DNA

Japanese scientists have made a micro-sized sewing machine to sew long threads of DNA into shape. The work published in the Royal Society of Chemistry journal Lab on a Chip demonstrates a unique way to manipulate delicate DNA chains without breaking them.

10 Jul 2008

Old order Amish, Mennonites reject health insurance, face high costs for care at not-for-profit hospitals

Old Order Amish and Mennonites in Lancaster County, Pa., "suffer from endemic proportions of certain deadly genetic diseases" because they do not marry outside their communities, and, as they "seek lifesaving treatments, the uninsured in these Pennsylvania communities are struggling with escalating costs of care" at not-for-profit hospitals, the Wall Street Journal reports.

2 Jul 2008

Losartan shows promise in treating Marfan syndrome

A small study in 18 pattients assessing the effectiveness of the drug losartan for treating Marfan syndrome in children has yielded encouraging results.

25 Jun 2008

Drug rapamycin reverses mental retardation caused by tuberous sclerosis complex

UCLA researchers discovered that an FDA-approved drug reverses the brain dysfunction inflicted by a genetic disease called tuberous sclerosis complex (TSC). Because half of TSC patients also suffer from autism, the findings offer new hope for addressing learning disorders due to autism. Nature Medicine publishes the findings in its online June 22 edition.

23 Jun 2008

Personal genomes may lead to personalized vitamin supplements

As the cost of sequencing a single human genome drops rapidly, with one company predicting a price of $100 per person in five years, soon the only reason not to look at your "personal genome" will be fear of what bad news lies in your genes.

2 Jun 2008

Potential hypophosphatasia therapy discovered

Researchers at the Burnham Institute for Medical Research, led by José Luis Millán, Ph.D., have demonstrated in mice the first successful use of enzyme replacement therapy to prevent hypophosphatasia (HPP), a primary skeletal disease of genetic origin. This discovery lays the foundation for future clinical trials for HPP patients.

1 Jun 2008

Genetic patients across Europe feeling real benefits claims EuroGentest NoE at ESHG

EuroGentest coordinator and president elect of the EHSG, Professor Jean-Jacques Cassiman is to use this year's ESHG conference in Barcelona as a plarform to illustrate the achievements of the Network of Excellence (NoE) format.

1 Jun 2008

Self-assembled viruses

Viruses are true experts at importing genetic material into the cells of an infected organism. This trait is now being exploited for gene therapy, in which genes are brought into the cells of a patient to treat genetic diseases or genetic defects. Korean researchers have now made an artificial virus. As described in the journal Angewandte Chemie, they have been able to use it to transport both genes and drugs into the interior of cancer cells.

30 May 2008

Rett syndrome gene found to be full of surprises

A study funded by the National Institutes of Health (NIH) has transformed scientists' understanding of Rett syndrome, a genetic disorder that causes autistic behavior and other disabling symptoms. Until now, scientists thought that the gene behind Rett syndrome was an "off" switch, or repressor, for other genes. But the new study, published today in Science, shows that it is an "on" switch for a startlingly large number of genes.

29 May 2008

Alpha1-antitrypsin deficiency associated with increased risk of lung cancer

Carriers of a common genetic disorder previously linked to lung disease may have a 70-percent to 100-percent increased risk of lung cancer, according to a report in the May 26 issue of Archives of Internal Medicine

26 May 2008

Common gene disorder doubles risk of lung cancer, even among nonsmokers

Mayo Clinic researchers have found that carrying a common genetic disorder doubles the risk of developing lung cancer in smokers and nonsmokers.

26 May 2008

Yerkes researchers develop first transgenic nonhuman primate model of Huntington's disease

In the first study of its kind, researchers at the Yerkes National Primate Research Center, Emory University, in collaboration with researchers from the Department of Human Genetics at Emory's School of Medicine, have developed the first transgenic nonhuman primate model of Huntington's disease (HD), one of the most devastating human neurodegenerative diseases.

22 May 2008

New program promises to solve puzzling medical cases

A new research program in the U.S. promises to provide some answers for people suffering from mysterious diseases that have defied diagnosis.

21 May 2008

An improved gene therapy agent from University of Florida

Replacing one amino acid on the surface of a virus that shepherds corrective genes into cells could be the breakthrough scientists have needed to make gene therapy a more viable option for treating genetic diseases such as hemophilia, University of Florida researchers say.

19 May 2008

NIH launches undiagnosed diseases program

The National Institutes of Health (NIH) today announced a new clinical research program that will aim to provide answers to patients with mysterious conditions that have long eluded diagnosis. Called the Undiagnosed Diseases Program, the trans-NIH initiative will focus on the most puzzling medical cases referred to the NIH Clinical Center in Bethesda, Md., by physicians across the nation.

19 May 2008

A transgenic monkey model of Huntington's disease developed

Scientists have developed the first genetically altered monkey model that replicates some symptoms observed in patients with Huntington's disease, according to a new study funded by the National Institutes of Health. Researchers are now able to better understand this complex, devastating and incurable genetic disorder affecting the brain.

19 May 2008