Autosomal News and Research

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Discovery of new cataract gene

The international team of researchers was able to identify the location and defect in the coding region of the gene through analysis of genetic material (DNA) from members of a large Swiss family, the majority of whom suffered from autosomal dominant juvenile cataract.

17 Feb 2008

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

Gender differences in renal and other genes contributing to blood pressure

Many common diseases exhibit gender bias and gender differences have been observed in the development of high blood pressure (hypertension) and heart (cardiovascular) disease.

9 Aug 2007

FDA approves Norditropin for short stature in children with Noonan syndrome

Novo Nordisk has announced that Norditropin (somatropin[rDNA origin] injection) received U.S. Food and Drug Administration (FDA) approval for the treatment of short stature in children with Noonan syndrome.

3 Jun 2007

Luminex Corporation licenses cystic fibrosis gene patent from John Hopkins

Luminex Corporation has announced that it has acquired a non-exclusive license from The Johns Hopkins University for the rights to use the university's patented cystic fibrosis genetic markers in the company's molecular diagnostic products sold in the United States.

From Luminex 25 Apr 2007

Latest sequencing targets for NHGRI

The National Human Genome Research Institute (NHGRI) has announced several new sequencing targets including the Northern white-cheeked gibbon (Nomascus leucogenys).

19 Jul 2006

MRI provides an early alert for polycystic kidney disease

A new method using magnetic resonance imaging (MRI) accurately tracks structural changes that predict functional changes earlier than standard blood and urine tests in people with autosomal dominant polycystic kidney disease (PKD).

17 May 2006

Promising treatment for Huntington's disease soon to be tested clinically

At the Institut Curie, CNRS and Inserm researchers have shown that cysteamine, which is already used to treat a rare disease called cystinosis, prevents the death of neurons in Huntington's disease. Like Alzheimer's and Parkinson's, Huntington's disease, is characterized by the abnormal death of neurons.

19 Apr 2006

Rapamycin (sirolimus) may be effective in treating kidney disease

A widely available drug may be effective in treating kidney disease, report scientists at the University of California, Santa Barbara. They describe the discovery in the online edition of the Proceedings of the National Academies of Science.

21 Mar 2006

Cellular discovery suggests possibilities for drug therapy for kidney disease

Scientists at the University of California, Santa Barbara have reported a discovery at the cellular level that suggests possibilities for drug therapy for kidney disease.

13 Feb 2006

New treatment trials for autosomal dominant polycystic kidney disease

The National Institutes of Health (NIH) and the PKD Foundation have launched two treatment trials for autosomal dominant polycystic kidney disease (ADPKD).

25 Jan 2006

Protein target for Parkinson's disease

Researchers at Johns Hopkins' Institute for Cell Engineering (ICE) have discovered a protein that could be the best new target in the fight against Parkinson's disease since the brain-damaging condition was first tied to loss of the brain chemical dopamine.

2 Dec 2005

Genetics and language or genetic language?

Most comparisons of language and inherited traits consider whether genetic patterns conform with expected relationships observed by linguists. But few have considered the use of genetic data to support specific hypotheses raised by linguists regarding the relationships between language families.

7 Nov 2005

Significant step forward in the genome era

In what promises to be a significant step forward in the genome era, the National Human Genome Research Institute (NHGRI) today announced plans to devote a portion of its large-scale sequencing capacity to efforts aimed at identifying the genetic roots of specific diseases that have long eluded gene hunters.

17 Oct 2005

Mechanism of X-chromosome dosage compensation in Drosophila

In Drosophila, like in humans, male cells have a single X chromosome, while female cells have two. Researchers have long debated over how X and autosomal chromosome gene expression is equalized between the sexes (generally regarding two different models, known as the activation model and the inverse model).

4 Oct 2005

First-of-its-kind test on a microchip array will help diagnose retinitis pigmentosa

Rapid genetic testing for eye disease is becoming a reality, thanks to a technology developed at the University of Michigan Kellogg Eye Center.

19 Sep 2005

EraGen Biosciences and Bayer announce agreements for new cystic fibrosis (CF) assay

EraGen Biosciences, a rapidly growing molecular diagnostics company and Bayer HealthCare LLC, Diagnostics Division, announced today that EraGen has licensed its patented MultiCode-PLx® System to Bayer HealthCare in an exclusive worldwide agreement for Cystic Fibrosis.

18 May 2005

Molecule called DJ-1 is likely to be involved in the generation of human tumors

Scientists have discovered that a molecule called DJ-1 is likely to be involved in the generation of human tumors through negative regulation of the well-known tumor suppressor, PTEN. The research, published in the March issue of Cancer Cell, has important implications for determining the prognosis of some human cancers, and may prove to be a suitable target for cancer therapy.

14 Mar 2005

Researchers find mutations in a multifunctional protein cause Parkinsonism

A team of researchers at Mayo Clinic in Jacksonville, Fla. and colleagues in Canada and Germany have discovered a gene and six mutations of it that cause symptoms associated with Parkinson's disease and other neurodegenerative disorders.

18 Nov 2004

A single change in a person’s DNA can contribute to a range of life-shortening risk factors

A woman with hypertension, low magnesium levels, and a cooperative family allowed scientists to pinpoint the mutation, which affects the genes of the mitochondria — the energy-producing power plants of the cell that are passed from mother to offspring.

25 Oct 2004