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 advances in sickle cell disease

Excruciating pain episodes, recurrent pneumonias, strokes, severe infections, chronic hemolytic anemia, and secondary pulmonary hypertension are common complications of sickle cell disease, a life-threatening inherited defect in blood that causes normally disc-shaped red blood cells to take on a sickle shape.

6 Dec 2004

Human endogenous retroviruses (HERVs)

Human endogenous retroviruses (HERVs) have been the subject of a great deal of investigation in recent years. It has been established that HERVs cause some genetic diseases and there is strong circumstantial evidence for a link to some types of cancer and autoimmune diseases, but what else do we need to know about these unique organisms?

4 Dec 2004

Brain inflammation is a sign of autism

A new study by scientists at Johns Hopkins shows that brain inflammation is a sign of autism. The findings are reported in the online edition of Annals of Neurology, the scientific journal of the American Neurological Association.

15 Nov 2004

Discovery of new compounds that may treat mucus build-up associated with cystic fibrosis

Preliminary studies show these compounds improve the flow of mucus through the respiratory tract, allowing airways to clear more quickly and efficiently.

14 Nov 2004

Search for genetic key to corneal disease

A new federal grant focusing on painful inherited visual disorders that scar the cornea will allow researchers to narrow the genetic cause of one type of corneal dystrophy and to offer improved diagnosis of this family of diseases.

8 Nov 2004

First home-testing device for phenylketonuria (PKU) patients

Home-testing kits have made it easier for diabetics and hypertension patients to track their conditions, but such self-monitoring hasn’t been possible for people with phenylketonuria (PKU).

1 Nov 2004

Scientists have devised a novel way to repair one of the genetic mutations that causes ataxia-telangiectasia

UCLA scientists have devised a novel way to repair one of the genetic mutations that causes ataxia-telangiectasia, (A-T), a life-shortening disorder that devastates the neurological and immune systems of one in 40,000 young children.

19 Oct 2004

Genetic discovery may hold clues to the development of many cases of the most common cancers

In a study published in Nature Genetics today, a team of scientists at The Institute of Cancer Research have discovered a gene that may hold clues to the development of many cases of the most common cancers including lung, breast, prostate and colon cancers.

12 Oct 2004

University of Texas Health Science Center publishes web database of clinical studies

The University of Texas Health Science Center at San Antonio has begun publishing descriptions of its clinical studies on the World Wide Web. Listings that involve more than 20 diseases or disorders are available by searching the new Web site.

5 Oct 2004

Research to halt the progress of chronic liver disease

A University of Queensland researcher is working to halt the progress of chronic liver disease, which affects a quarter of million Australians.

22 Sep 2004

Study hints at antioxidants being able to prevent and restore hearing loss

In a preliminary study, researchers find that vitamin E may be effective in restoring sudden onset hearing loss of unknown origin (idiopathic sudden hearing loss). These findings suggest that further research may reveal the role of antioxidants in the prevention and restoration of hearing loss.

18 Sep 2004

Protein that causes juvenile Batten disease also plays a key role in normal cell function

The aberrant protein that causes juvenile Batten disease, a fatal neurodegenerative disorder of childhood, also plays a key role in normal cell function, Duke University Medical Center researchers have found.

16 Sep 2004

Scientists closer to correcting an abnormal gene which causes Charcot-Marie-Tooth disease

Scientists at the University of Edinburgh are closer to correcting an abnormal gene which causes one of the crippling muscle wasting diseases known collectively as Charcot-Marie-Tooth (CMT) disease.

10 Sep 2004

University of Utah gets patent approval relating to methods of rapid nucleic acid amplification

The U.S. Patent and Trademark Office has issued the University of Utah U.S. patent No. U.S. 6,787,338 (the '338 patent) relating to methods of rapid nucleic acid amplification.

8 Sep 2004

Pioneering work with human embryonic stem cells could speed up development of new treatments for Parkinson’s and diabetes

Pioneering work with human embryonic stem (hES) cells could speed up the development of new treatments for a range of degenerative disorders such as Parkinson’s disease and diabetes according to Dr Stephen Minger of King’s College London, speaking today at the BA Festival of Science.

8 Sep 2004

Research sheds shed light on a common cause of miscarriage in humans

Top poker players know that the face mirrors the brain. Specialists in embryonic development wouldn’t disagree. In fact, because the same clumps of primordial cells mold the final features of both, a close look at a child’s face can often yield clues about less visible problems within the skull

20 Aug 2004

Relationship between brain chemical messenger glutamate and schizophrenia traits

Researchers at the NIH's National Institute of Mental Health (NIMH) have identified a relationship between a small section of one gene, the brain chemical messenger glutamate, and a collection of traits known to be associated with schizophrenia.

15 Aug 2004

Gene responsible for management of glutamate is a promising candidate in determining risk for schizophrenia

Researchers at the National Institute of Mental Health have identified a relationship between a small section of one gene, the brain chemical messenger glutamate, and a collection of traits known to be associated with schizophrenia.

11 Aug 2004

New direction for research into Sly Syndrome

Findings by a Saint Louis University research team led by the scientist who discovered Sly Syndrome 32 years ago point to a new direction for research into the rare genetic disorder that can cause bone deformities, vision and hearing loss, mental retardation and death in children.

9 Aug 2004

New gene-silencing technique

A new gene-silencing technique that takes place in the nucleus of human cells, has been demonstrated by researchers at the University of California, San Diego (UCSD) School of Medicine and the VA San Diego Healthcare System.

5 Aug 2004