Genetic News and Research

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Two papers may help identify gene variants that contribute to OCD or Tourette syndrome

Two papers that will appear in the journal Molecular Psychiatry, both receiving advance online release, may help identify gene variants that contribute to the risks of developing obsessive-compulsive disorder (OCD) or Tourette syndrome (TS). Both multi-institutional studies were led by Massachusetts General Hospital (MGH) investigators, and both are the first genome-wide association studies (GWAS) in the largest groups of individuals affected by the conditions.

15 Aug 2012

Scientists use supercomputers to reveal links between known risk factors and heart biology

About 25,000 Danes currently live with congenital heart defects. Both heredity and environment play a role for these malformations, but exactly how various risk factors influence the development of the heart during pregnancy has been a mystery until now.

15 Aug 2012

TAIN project aims to optimise treatment for babies with adrenal insufficiency

Groundbreaking research into rare neonatal diseases, conducted by the University of Sheffield, is set to improve the treatment of babies who lack the stress hormone cortisol.

15 Aug 2012

HAS-BLED proves predictive ability

Researchers say that the HAS-BLED score is a significant predictor for intracranial hemorrhage when compared with the HEMORR2HAGES and ATRIA scores, supporting international guideline recommendations.

14 Aug 2012

Brain language structures altered in patients at genetic risk for schizophrenia

Mentally healthy individuals with a family history of schizophrenia display alterations in brain areas associated with language, US researchers report.

14 Aug 2012

Schizophrenia and the immune system: an interview with Prof Cyndi Shannon Weickert

Schizophrenia is the most disabling disease impacting youth today. It impacts 1% of the total population and typically causes withdrawal from society, loss in IQ, disordered thought and speech, hallucinations and delusions.

14 Aug 2012

Antisense therapy shows promise in treating toxoplasmosis

A targeted approach to treating toxoplasmosis, a parasitic disease, shows early promise in test-tube and animal studies, where it prevented the parasites from making selected proteins. When tested in newly infected mice, it reduced the number of viable parasites by more than 90 percent, researchers from the University of Chicago Medicine report in the Proceedings of the National Academy of Sciences.

14 Aug 2012

Researchers identify key element in the development of Burkitt lymphoma

Burkitt lymphoma is a malignant, fast-growing tumor that originates from a subtype of white blood cells called B lymphocytes of the immune system and often affects internal organs and the central nervous system. Now Dr. Sandrine Sander and Professor Klaus Rajewsky of the Max Delbr-ck Center for Molecular Medicine (MDC) Berlin-Buch have identified a key element that transforms the immune cells into malignant lymphoma cells.

14 Aug 2012

Gadd45a protein plays a key role in skeletal muscle atrophy

Whether you're old, have been ill, or suffered an injury, you've watched gloomily as your muscles have atrophied. The deterioration of muscle-even slight or gradual-is about as common to the human condition as breathing.

14 Aug 2012

Scientists identify new genetic alterations underlying high-risk subtype of ALL

Scientists have identified new genetic alterations underlying a high-risk subtype of the most common childhood cancer that could be effectively targeted with existing leukemia therapies.

14 Aug 2012

Novel Cornelia de Lange syndrome gene discovered

Scientists have discovered that mutations in the histone deacetylase 8 gene can cause the rare genetic disorder known as Cornelia de Lange syndrome, which is characterized by intellectual disability, limb deformity, and other disabilities resulting from problems in early development.

13 Aug 2012

Quintiles acquires premier provider of genomics testing and analysis

To help biopharmaceutical companies dramatically improve drug development productivity and deliver greater value, Quintiles today announced the acquisition of Expression Analysis, Inc. (EA), a premier provider of genomics testing and analysis to biopharma, academic, government and non-profit customers.

13 Aug 2012

Researchers identify new gene in Cornelia deLange syndrome

Genetics researchers have identified a key gene that, when mutated, causes the rare multisystem disorder Cornelia deLange syndrome (CdLS). By revealing how mutations in the HDAC8 gene disrupt the biology of proteins that control both gene expression and cell division, the research sheds light on this disease, which causes intellectual disability, limb deformations and other disabilities resulting from impairments in early development.

13 Aug 2012

Fluorescent molecules 'tag' DNA and monitor looping process

In a new study, UT Dallas researchers outline how they used fluorescent molecules to "tag" DNA and monitor a process called DNA looping, a natural biological mechanism involved in rearranging genetic material in some types of cells.

13 Aug 2012

Researchers discover gene mutations linked to spinocerebellar ataxia

A global hunt for the cause of a crippling inherited nerve disorder has found its target. The discovery opens the door for better diagnosis and treatment of this particular disease - but also for better understanding of why nerves in the brain's movement-controlling center die, and how new DNA-mapping techniques can find the causes of other diseases that run in families.

13 Aug 2012

Medical ethics: an interview with Anita Silvers

Medical ethics assists healthcare professionals to make decisions respectful of persons who happen to be their patients.

13 Aug 2012

HDAC8 gene mutations cause Cornelia deLange syndrome

13 Aug 2012

Johns Hopkins CIDR receives NIH contract to study genetic diseases

The Johns Hopkins Center for Inherited Disease Research (CIDR) program contract, which provides up to $101 million in research funding from the National Institutes of Health (NIH) to study the genetic contribution to human diseases, has been renewed for another five years.

13 Aug 2012

Scientists discover why major depression or chronic stress can cause loss of brain mass

Major depression or chronic stress can cause the loss of brain volume, a condition that contributes to both emotional and cognitive impairment. Now a team of researchers led by Yale scientists has discovered one reason why this occurs - a single genetic switch that triggers loss of brain connections in humans and depression in animal models.

13 Aug 2012

Research focuses on evolution of sex and gamete function

The propagation of every animal on the planet is the result of sexual activity between males and females of a given species. But how did things get this way? Why two sexes instead of one? Why are sperm necessary for reproduction and how did they evolve? These as-yet-unresolved issues fascinate Timothy Karr, a developmental geneticist and evolutionary biologist at Arizona State University's Biodesign Institute.

13 Aug 2012