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.

Personalized medicine will alter treatment of genetic disorders

One of the nation's pre-eminent genetic researchers, Eric Hoffman, PhD, of Children's Research Institute at Children's National Medical Center, predicts that in relatively short order, medicine's next innovation--individualized molecular therapies--will have the unprecedented ability to treat muscular dystrophies, and other disorders.

28 Dec 2007

Tweaking a gene may fix Fragile X syndrome

According to new research clues to Fragile X syndrome may be connected to one single human gene.

20 Dec 2007

RNA interference therapy heals growth deficiency disorder in a live animal

A team of Vanderbilt researchers have demonstrated for the first time that a new type of gene therapy, called RNA interference, can heal a genetic disorder in a live animal.

20 Dec 2007

Highly promising Alzheimer's and Parkinson's research

The TI Pharma project is a large-scale study into the brain material of Alzheimer's and Parkinson's patients, who gave permission to the Netherlands Brain Bank for their tissue to be used for scientific research.

17 Dec 2007

New ray of hope for children with Batten disease

Investigators at the University of Rochester Medical Center have uncovered a promising drug therapy that offers a ray of hope for children with Batten disease

13 Dec 2007

Most carriers of Fanconi anemia genes are not at a higher risk of cancer

For almost 50 years, Fanconi anemia has been associated with leukemia. Not just among those who have the genetic disorder but among their family members, whose genes, they were told, made them highly susceptible to a variety of malignancies.

13 Dec 2007

Milk and egg allergies persist well into the school years and beyond

Considered “transitional” a generation ago, milk and egg allergies now appear to be more persistent and harder to outgrow, according to new research from the Johns Hopkins Children's Center.

13 Dec 2007

Genetic evidence that human evolution is speeding up

Researchers discovered genetic evidence that human evolution is speeding up – and has not halted or proceeded at a constant rate, as had been thought – indicating that humans on different continents are becoming increasingly different.

10 Dec 2007

Reprogrammed stem cells cure sickle cell anaemia

Scientists in the U.S. have made a breakthrough in the fight against sickle cell anaemia, a blood disease caused by a defect in a single gene.

9 Dec 2007

Researchers gain new understanding of the causes of dyslexia

Dyslexia marked by poor reading fluency - slow and choppy reading - may be caused by disorganized, meandering tracts of nerve fibers in the brain, according to researchers at Children's Hospital Boston and Beth Israel Deaconess Medical Center (BIDMC).

4 Dec 2007

Molecular technology used to identify unexpected bacteria in cystic fibrosis patients

Molecular technology developed by a University of Colorado at Boulder professor to probe extreme life forms in undersea hydrothermal vents has been used to identify unexpected bacteria strains in the lung fluid of Denver children suffering from cystic fibrosis, findings that may lead to more effective therapies.

4 Dec 2007

Genomic disorders occur more frequently than previously thought

Research published today in Nature Genetics shows that some rearrangements of the human genome occur more frequently than previously thought.

3 Dec 2007

Benefits of ibuprofen shown to outweigh risks of gastrointestinal bleeding in children with cystic fibrosis

Treatment with ibuprofen is associated with a significantly slower rate of decline in lung function in children and adolescents with cystic fibrosis, according to a new study.

3 Dec 2007

BioMarin files investigational NDA for PEG-PAL for the treatment of phenylketonuria

BioMarin Pharmaceutical Inc. has announced that it has filed an investigational new drug application (IND) with the U.S. Food and Drug Administration (FDA) for PEG-PAL (Poly Ethylene Glycol-Phenylalanine Ammonia Lyase), formerly known as Phenylase, for the treatment of phenylketonuria (PKU).

27 Nov 2007