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Duplication of RPS6KA3 gene produces limited family intellectual disability

The financial contributions made some years ago by individuals and public administration bodies in the telemarathon solidarity events on the Basque Public Broadcasting Corporation (EiTB) and subsequently channelled through the Basque Foundation for Health Innovation and Research (BIOEF), has resulted in undertaking successful innovative research at the Cruces Hospital near Bilbao in the Basque province of Bizkaia, describing a new syndrome of limited family intellectual disability.

26 Sep 2011

Researchers analyse effects of BPA in an in-vitro culture of ovaries

Researchers at Universitat Aut-noma de Barcelona, in collaboration with the Vall d'Hebron Hospital Fetal Tissue Bank, the Department of Gynaecology and the Research Unit of Paediatric Endocrinology, analysed the effects of Bisphenol A (BPA), a polymer widely used to manufacture plastics, in an in vitro culture of ovaries.

22 Sep 2011

Families help identify new gene for motor neuron disease

Families suffering from a history of motor neuron disease have helped an international scientific team locate a new gene linked to the incurable disease.

22 Sep 2011

Researchers identify common genetic mutation for ALS, frontotemporal dementia

Frontotemporal dementia and amyotrophic lateral sclerosis, also known as Lou Gehrig's disease -- two fatal neurodegenerative disease with distinct but sometimes overlapping symptoms -- are triggered by a common mutation in many cases, according to researchers who say they have identified the mutated gene.

22 Sep 2011

Scientists discover new genetic mutation for amyotrophic lateral sclerosis

A team led by scientists from Johns Hopkins and the National Institutes of Health has discovered a new genetic mutation for amyotrophic lateral sclerosis (ALS) and a related disease called frontotemporal dementia (FTD) that appears to account for more than a third of all inherited cases of these diseases.

22 Sep 2011

Chromatin, Dow AgroSciences achieve first milestone in research collaboration

Chromatin Inc. announced today that they have reached the first milestone in their research collaboration with Dow AgroSciences LLC, a wholly owned subsidiary of The Dow Chemical Company. This collaboration is focused on developing a novel combination of Chromatin's Mini-Chromosomes with Dow AgroSciences' EXZACT Precision Technology.

12 Sep 2011

Common genetic variant may predispose people to acute dissections

Richard Holbrooke, John Ritter, Lucille Ball, Jonathan Larson and Great Britain's King George II were all taken by the same silent killer: an acute aortic dissection. Now, scientists led by researchers at The University of Texas Health Science Center at Houston and Baylor College of Medicine have found an association with a common genetic variant in the population that predisposes people to acute dissections and can approximately double a person's chances of having the disease.

12 Sep 2011

Study: No big shift toward higher fatal heart attack rates after menopause in women

Contradicting the long-held medical belief that the risk of cardiovascular death for women spikes sharply after menopause, new research from Johns Hopkins suggests instead that heart disease mortality rates in women progress at a constant rate as they age.

6 Sep 2011

Chromatin might have another life as direct signaling molecule

Chromatin - the intertwined histone proteins and DNA that make up chromosomes - constantly receives messages that pour in from a cell's intricate signaling networks: Turn that gene on. Stifle that one. But chromatin also talks back, scientists at The University of Texas MD Anderson Cancer Center report today in the journal Cell, issuing orders affecting a protein that has nothing to do with chromatin's central role in gene transcription - the first step in protein formation.

2 Sep 2011

Scientists discover genetic cause of extreme thinness

Scientists have discovered a genetic cause of extreme thinness for the first time, in a study published today in the journal Nature.

2 Sep 2011

Stanford method identifies essential regions of Caulobacter's genome

A team at the Stanford University School of Medicine has cataloged, down to the letter, exactly what parts of the genetic code are essential for survival in one bacterial species, Caulobacter crescentus.

31 Aug 2011

FDA approves Abbott's Vysis ALK FISH test for NSCLC therapy selection

Abbott today announced it has received approval from the U.S. Food and Drug Administration (FDA) for a new molecular diagnostic test designed to detect rearrangements of the anaplastic lymphoma kinase (ALK) gene in non-small-cell lung cancer.

29 Aug 2011

Protein that allows Ebola virus to attack cells discovered

A U.S. research team has discovered a protein called Niemann-Pick C1 (NPC1), which they found was responsible for allowing Ebola virus to enter and replicate within cells.

26 Aug 2011

Researchers reveal new gene associated with osteoarthritis

Researchers have today revealed a new gene associated with osteoarthritis. This is only the third gene to be identified for this painful and debilitating disease that affects more than 40 per cent of people aged more than 70 years.

26 Aug 2011

Researchers discover NPC1 protein as crucial for Ebola virus to enter host cells

Although outbreaks are rare, Ebola virus, the cause of Ebola hemorrhagic fever (EHF), is one of the deadliest known viruses affecting humans. According to the World Health Organization (WHO), approximately 1,850 EHF cases with more than 1,200 deaths have been documented since the virus was identified in 1976.

25 Aug 2011

Scientists identify molecular pathway that plays a key role in stress-related DNA damage

Working closely with a team of researchers from Duke University, scientists from the Florida campus of The Scripps Research Institute have helped identify a molecular pathway that plays a key role in stress-related damage to the genome, the entirety of an organism's hereditary information.

23 Aug 2011

EMA accepts Pfizer's regulatory submissions of two investigational cancer drugs for review

Pfizer Inc. announced today that the European Medicines Agency (EMA) has accepted Pfizer's regulatory submissions for review of two investigational compounds - crizotinib, an oral first-in-class anaplastic lymphoma kinase (ALK) inhibitor, for the treatment of patients with previously treated ALK-positive advanced non-small cell lung cancer (NSCLC); and bosutinib for the treatment of adult patients with newly diagnosed Philadelphia chromosome positive (Ph+) chronic myeloid leukemia (CML) in the chronic phase.

18 Aug 2011

G-CSF therapy does not induce chromosomal instability in healthy stem cell donors

According to a study published in Blood, the Journal of the American Society of Hematology (ASH), researchers have reported that administration of granulocyte colony-stimulating factor (G-CSF), a drug that releases stem cells from the bone marrow into the blood, is unlikely to put healthy stem cell donors at risk for later development of abnormalities involving loss or gains of chromosomes that have been linked to hematologic disorders such as myelodysplastic syndromes (MDS) and acute myeloid leukemia.

12 Aug 2011

Blood test early in pregnancy to detect baby’s gender

While carrying the child, a mother's blood has cell-free fetal DNA floating around in it, and it's possible to use this to test for the baby's sex. In a meta-analysis that covered more, the test was found to be 95% efficient in guessing the sex of the fetus — and it works from as early as seven weeks. As the fetus and the placenta develop, the amount of DNA present in the mother increases, boosting the accuracy of the test, which hits its peak at 20 weeks.

12 Aug 2011

Noninvasive prenatal DNA test can detect fetus at risk for sex-linked disorders

As a noninvasive method of determining the sex of a fetus, tests using cell-free fetal DNA obtained from the mother's blood after 7 weeks gestation performed well, while urine-based tests appear to be unreliable, according to a review and analysis of previous studies, reported in the August 10 issue of JAMA.

10 Aug 2011