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.

Screening for toxoplasmosis for all pregnant women and newborns is necessary

Physicians found that signs, symptoms and identifiable risk factors are absent in more than half of the mothers of infants with congenital toxoplasmosis in a national study of children with this disease.

9 Feb 2005

Potential treatments for neurofibromatosis

Scientists at the Indiana University School of Medicine are closing in on potential treatments for neurofibromatosis, a genetic disease that afflicts 100,000 Americans with nerve tissue tumors, some of which become cancerous.

3 Feb 2005

Startling results from new biomedical research will smooth path to the market place

Researchers have discovered how to convert liver cells of mice into pancreatic cells using a single injection. This may eventually lead to a cure for diabetes. Dr. James Mittra, one of the organisers of an international conference in Edinburgh on the Evolution of the Life Science Industries asks, “How does the pharmaceutical industry respond to this kind of work? They are primarily interested in treatments, not cures. Do they see this kind of research as a threat?”

27 Jan 2005

Modern humans have sloppy gene control mechanisms which can make us susceptible to diseases

Our evolutionary ancestors’ lack of choice in the mating game has left modern humans exposed to disease, according to new research published in the journal PLOS Biology today.

25 Jan 2005

Corticosteroids can be beneficial in the treatment of Duchenne muscular dystrophy

Corticosteroids can be beneficial in the treatment of Duchenne muscular dystrophy and can be offered as a treatment option, according to the American Academy of Neurology and the Child Neurology Society in a new practice guideline published in the January 11 issue of Neurology, the scientific journal of the American Academy of Neurology.

10 Jan 2005

Researchers can now inexpensively program the chemical synthesis of entire genes on a single microchip

Devices the size of a pager now have greater capabilities than computers that once occupied an entire room. Similar advances are being made in the emerging field of synthetic biology at the University of Houston, now allowing researchers to inexpensively program the chemical synthesis of entire genes on a single microchip.

23 Dec 2004

Botox may be a possible treatment for sufferers of Tourette's syndrome

Researchers at Baylor College of Medicine in Houston are using botulinum toxin type A (Botox) to treat the neurological disorder, which can cause involuntary motor and vocal tics.

21 Dec 2004

Chronic stress may speed up the onset of skin cancer

Does stress speed up the onset of skin cancer? The answer, in mice anyway, appears to be "yes." Scientists at the Johns Hopkins Kimmel Cancer Center say that chronic stress may speed up the process in those at high-risk for the disease.

8 Dec 2004

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