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.

New way to study proteins in live cells

For the first time, Johns Hopkins researchers were able to easily jumpstart the activity of a well-known cancer protein in live cells with a small molecule, a strategy that pinpointed key players in the cancer process and can be used to determine new therapeutic targets.

9 Mar 2006

Analysis of protein interactions dispels old notions of what's important about them

Discoveries made during the first large-scale analysis of interactions between proteins in our cells hold promise for identifying new genes involved in genetic diseases, according to researchers at Johns Hopkins and the Institute of Bioinformatics (IOB) in Bangalore.

27 Feb 2006

Engineers identify tiny iron oxide particles associated with Alzheimer's

Engineers have found a way to pinpoint and identify the tiny iron oxide particles associated with Alzheimer's and other neurodegenerative diseases in the brain.

27 Feb 2006

Farnesyltransferase inhibitor may improve progeria

UCLA researchers found that an experimental cancer drug improves the signs of progeria in a mouse model. Progeria is a rare genetic disease causing accelerated aging and cardiovascular disease in children. The new UCLA findings help to define a new strategy for treating children with progeria.

17 Feb 2006

Abraham Lincoln may have suffered from movement disorder

Researchers at Johns Hopkins and the University of Minnesota have discovered a gene mutation in the descendants of Abraham Lincoln's grandparents that suggests the Civil War president himself might have also suffered from a disease that destroys nerve cells in the cerebellum-- the part of the brain that controls movement.

7 Feb 2006

Research sheds light on origins of "junk" DNA

In experiments with transgenic mice, University of Pennsylvania School of Medicine researchers discovered the remaining steps in the complicated process of how the largest class of jumping genes replicates and inserts themselves within the human genome.

7 Feb 2006

60 new genes controlled by regulatory sequences

Researchers worldwide are seeking to define ancient sections of our genetic code that may soon be as important to medical science as genes.

2 Feb 2006

8 million children born every year with serious birth defects

According to a new report, every year an estimated 8 million children are born with a serious birth defect of genetic or partially genetic origin.

31 Jan 2006

Faster method for detecting disease-causing mutations developed by Pitt researchers

University of Pittsburgh researcher Alexander Star and colleagues at a California-based company, Nanomix, Inc., have developed devices made of carbon nanotubes that can find mutations in genes causing hereditary diseases, they report in the Jan. 16 issue of the journal Proceedings of the National Academy of Science.

24 Jan 2006

New tool for genetic research

In an article appearing online today in the journal Nature Methods, researchers at the EPFL (Ecole Polytechnique Fidirale de Lausanne) unveil a powerful new tool that will facilitate genetic research and open up new avenues for the clinical treatment of genetic disease.

23 Jan 2006

Discovery of gene that causes Meckel-Gruber syndrome

The discovery of a gene that causes a rare, inherited and always fatal disorder, Meckel-Gruber (MKS) syndrome, may provide researchers with the common thread to unravel the mysteries of other birth defects.

23 Jan 2006

New microRNA mechanism for regulating brain function

Non-coding regions of the genome - those that don't code for proteins - are now known to include important elements that regulate gene activity. Among those elements are microRNAs, tiny, recently discovered RNA molecules that suppress gene expression.

18 Jan 2006

New gene therapy maybe useful for treating muscular dystrophy

A new gene therapy technique that has shown promise in skin disease and hemophilia might one day be useful for treating muscular dystrophy, according to a new study by researchers at Stanford University School of Medicine.

29 Dec 2005

University at Buffalo researches rules for targeting RNA

Once described as DNA's less-famous chemical cousin, RNA, or ribonucleic acid, recently has moved to center stage.

15 Dec 2005

Gene mapping project promises new targeted cancer therapies

Government researchers in the United States have this week launched a pilot project to find all the little genetic changes that cause cancer in the hope it will lead to a whole new world of targeted cancer therapy.

14 Dec 2005

$Bone quality regulator identified - possible target for preventing and treating bone fractures$

Bone quality regulator identified - possible target for preventing and treating bone fractures

University of California - San Francisco (UCSF) scientists have determined that the quality of bone matrix, a key component of bone, is regulated by a molecule known as transforming growth factor beta.

13 Dec 2005

Dog gene map may help explain human diseases

U.S. scientists say a detailed analysis of the dog genome answers such questions as how dogs of a different breed still belong to the same species, and may also explain some aspects of human health and biology.

11 Dec 2005

Liver plays crucial role in iron metabolism

A new study in the December Cell Metabolism reveals an unexpected connection between a tumor suppressor gene in the liver and the normally careful control over the amount of iron absorbed from the diet.

7 Dec 2005

Liver transplants may not be suitable for all cystic fibrosis patients

A new study on patients with cystic fibrosis (CF) who have had abnormal bleeding from ruptured blood vessels in the esophagus (variceal hemorrhage) as a result of liver disease found that transplant may not be indicated if there are no other indications of advanced liver disease.

5 Dec 2005

New method to discover links between cellular machines

Most of what happens in cells is the work of machines that contain dozens of molecules, chiefly proteins. With the completion of human and other genomes, researchers now have a nearly complete "parts list" of such machines; what's lacking now is the manual telling where all the pieces go.

28 Nov 2005