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.

Better understanding of cancer cachexia

New research shows that a wasting condition responsible for nearly a third of all cancer deaths involves the loss of an essential muscle protein that is also lost in people with muscular dystrophy.

15 Nov 2005

Statin drug reverses learning and attention deficits in a mouse model of the genetic disorder Neurofibromatosis type I

This week, researchers report evidence that a statin drug already shown to be safe for use in humans has proven effective at correcting cell-cell communication and curing learning disfunction in a mouse model of Neurofibromatosis type I, a human genetic disorder that causes learning disabilities in millions of people worldwide.

7 Nov 2005

Novel technique to remove tumors from the cervical region of the spine

University of California - San Francisco (UCSF) surgeons are using a novel technique to remove tumors from the cervical region of the spine that were previously thought "inoperable."

7 Nov 2005

Study provides insight into cellular defenses against genetic mutation

With their latest discovery, researchers have significantly advanced the understanding of how human cells protect themselves from constant and potentially destructive changes in gene expression.

25 Oct 2005

FDA approves first transplant of fetal stem cells into human brains

The U.S. Food and Drug Administration has approved the first transplant of fetal stem cells into human brains, a procedure that if successful could pave the way to treating a host of neural disorders.

24 Oct 2005

Breath-analysis testing may prove to be an effective method for detecting the damaging lung-bacteria growth seen in cystic fibrosis

By using a chemical analysis method developed for air-pollution testing, UCI chemists and pediatricians have found that people with cystic fibrosis exhale higher concentrations of sulfur compounds from their lungs than do people who don't have the disease.

17 Oct 2005

New public survey on stem cells

Stem cells are unique among human cells in that they possess the uncanny ability to develop into virtually any other cell of the body, offering a hypothetical tool kit for repairing diseased hearts, mending broken spinal cords, or correcting genetic diseases, among other hoped-for benefits.

13 Oct 2005

Nanogen subsidiary, Epoch Biosciences issued new patent

Nanogen announced today its subsidiary, Epoch Biosciences, was issued Patent No. 6,951,930, "Hybridization-Triggered Fluorescent Detection of Nucleic Acids" by the U.S. Patent and Trademark Office.

11 Oct 2005

Technique for inserting genes into specific sites on the genome in liver cells

The genes are inserted into non-coding regions of the genome so there is no danger of interfering with the functioning of other genes. Once inserted, the gene remains a permanent part of the cell's genome.

10 Oct 2005

Discovery of new features of a key quality-control mechanism in our cells

Mutations in genes are the basis of evolution, so we owe our existence to them. Most mutations are harmful, however, because they cause cells to build defective proteins. So cells have evolved quality control mechanisms that recognize and counteract genetic mistakes.

9 Oct 2005

Discovered of gene mutations associated with hereditary neuralgic amyotrophy

In a significant advance toward understanding a perplexing and painful neurological disorder, an international team of researchers has discovered gene mutations associated with an inherited chronic pain and weakness syndrome known as hereditary neuralgic amyotrophy (also called HNA).

27 Sep 2005

Gene responsible for Neuralgic Amyotrophy identified

Neuralgic Amyotrophy is a painful disorder of the peripheral nervous system. This heritable disease causes prolonged acute attacks of pain in the shoulder or arm, followed by temporary paralysis.

27 Sep 2005

Delaying having children defies nature and risks heartbreak

...say experts in the British Medical Journal. If women want families and room for manoeuvre they are unwise to wait till their 30s.

26 Sep 2005

First-of-its kind atlas of the folds of the cerebral cortex

Neuroscientists at Washington University School of Medicine in St. Louis have assembled a first-of-its kind atlas of the folds of the cerebral cortex, the wrinkled surface layer of the brain credited with many of the higher cognitive functions that make us human.

26 Sep 2005

HOXA1 is a gene that's been looking for a disorder for a long time

Researchers at Children's Hospital Boston, who specialize in studying the genetics of rare eye-movement disorders, have found a rare genetic syndrome whose implications go far beyond the eye, raising intriguing questions about human cardiovascular and brain development.

12 Sep 2005

It's pure science fiction! - human embryo to be created from two mothers

Scientists in Britain have been given permission to create a human embryo that will have genetic material from two mothers.

10 Sep 2005

New lotion repairs sun damaged skin

Scientists in the U.S. have developed a lotion which repairs sun damaged skin.

1 Sep 2005

Blocking Hutchinson-Gilford progeria syndrome (HGPS) with anticancer drugs

A class of anticancer drugs currently being evaluated in phase 3 clinical trials may also be an effective treatment for Hutchinson-Gilford progeria syndrome (HGPS), a fatal genetic disorder that causes premature aging.

29 Aug 2005

Drugs known as farnesyltransferase inhibitors (FTIs) may hold promise for premature aging disorder

In a surprising development, a research team led by the National Human Genome Research Institute (NHGRI), has found that a class of experimental anti-cancer drugs also shows promise in laboratory studies for treating a fatal genetic disorder that causes premature aging.

29 Aug 2005

New tool to help unravel the function of an elusive DNA structure

A Rensselaer researcher has developed a new tool to help unravel the function of an elusive DNA structure. The findings, which were presented today at the 230th national meeting of the American Chemical Society (ACS) in Washington, D.C., could lead to a better understanding of diseases such as cancer and diabetes.

29 Aug 2005