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Whole exome sequencing can assist in early diagnosis of various disorders

Approximately one-fourth of the 3,386 patients whose DNA was submitted for clinical whole exome testing received a diagnosis related to a known genetic disease, often ending a long search for answers for them and their parents, said researchers from the Baylor College of Medicine departments of molecular and human genetics and pediatrics and the Baylor Human Genome Sequencing Center and the University of Texas Health Science Center at Houston.

20 Oct 2014

LCSB scientists characterize new tumour suppressor gene

Scientists at the Luxembourg Centre for Systems Biomedicine of the University of Luxembourg have published their findings that mutations in a gene known as "ARMC5" promote the growth of benign tumours in the adrenal glands and on the meninges: ARMC5 appears to belong to the group of so-called tumour suppressor genes.

14 Oct 2014

Study can help breeders improve health-related traits in cultivated tomatoes

Tomatoes are known to be rich in antioxidants such as vitamin C, lycopene, β-carotene, and phenolics. Antioxidants, substances capable of delaying or inhibiting oxidation processes caused by free radicals, are of interest to consumers for their health-related contributions, and to plant breeders for their ability to provide plants with natural resistance to biotic and abiotic stresses.

10 Oct 2014

Researchers reveal why RB1 gene mutations primarily cause retinoblastomas in children

Retinoblastoma is a childhood retinal tumor usually affecting children one to two years of age. Although rare, it is the most common malignant tumor of the eye in children.

25 Sep 2014

Circulating tumour cell clinical research collaboration announced between EKF Diagnostics and Massachusetts General Hospital

EKF, announces that it has entered into a two year research collaboration with Massachusetts General Hospital.

From EKF Diagnostics 23 Sep 2014

Coffee increases risk of prediabetes in young adults with hypertension

Coffee increases the risk of prediabetes in young adults with hypertension who are slow caffeine metabolisers, according to results from the HARVEST study presented at ESC Congress today by Dr Lucio Mos from Italy. People who drank more than three cups of coffee per day doubled their risk of prediabetes.

2 Sep 2014

Mutant allele frequency predicts lung cancer TKI response

Tyrosine kinase inhibitor sensitivity may be predicted by the frequency of a point mutation in the epidermal growth factor receptor gene, suggests a study of Japanese patients with advanced lung adenocarcinoma.

28 Aug 2014

FDA approves ViiV Healthcare's Triumeq tablets for treatment of HIV-1 infection

ViiV Healthcare announced today that the US Food and Drug Administration has approved Triumeq (abacavir 600mg, dolutegravir 50mg and lamivudine 300mg) tablets for the treatment of HIV-1 infection.

23 Aug 2014

Study identifies novel gene that controls nerve conduction velocity linked with MS

A new study published in The American Journal of Pathology identifies a novel gene that controls nerve conduction velocity.

13 Aug 2014

Cannabis use and schizophrenia ‘share genetic risk’

Variants of genes that predispose people to developing schizophrenia also predispose them to using cannabis, a study of more than 2000 people has found.

3 Jul 2014

Metabolic pathway genes linked to AMD and choroidal vasculopathy

The cholesteryl ester transfer protein gene appears to increase susceptibility to neovascular age-related macular degeneration and polypoidal choroidal vasculopathy, research shows.

1 Jul 2014

Reticular drusen linked to AMD progression

Four percent of individuals aged 49 years and above will develop reticular drusen over 15 years of follow-up, Australian study findings suggest, with the incidence higher in those with age-related macular degeneration risk factors.

1 Jul 2014

Causal role proposed for vitamin D in blood pressure

The results of a mendelian randomisation analysis suggest a causal link between low levels of vitamin D and increased blood pressure.

30 Jun 2014

Agena Bioscience expands ultrasensitive somatic mutation detection technology

Agena Bioscience, Inc., which recently acquired the Bioscience business of Sequenom, Inc., today announced expansion of the UltraSEEK™ technology, the first ultrasensitive somatic mutation detection technology for high-throughput and definitive interrogation of rare mutations that occur at less than 1% abundance in matched tissue, circulating plasma, and tumor samples.

31 May 2014

Vitamin D deficiency predicts prostate biopsy outcomes

Men with vitamin D deficiency are more likely than men with normal levels to test positive for prostate cancer on biopsy, and to have aggressive disease, US researchers have found.

28 May 2014

Scientists identify key molecular switches that control age-related memory impairment

Even among the healthiest individuals, memory and cognitive abilities decline with age. This aspect of normal aging can affect an individual's quality of life and capability to live independently but the rate of decline is variable across individuals.

7 May 2014

Possible link between aggressive prostate cancer and vitamin D deficiency

Vitamin D deficiency was an indicator of aggressive prostate cancer and spread of the disease in European-American and African-American men who underwent their first prostate biopsy because of abnormal prostate-specific antigen (PSA) and/or digital rectal examination (DRE) test results, according to a study published in Clinical Cancer Research, a journal of the American Association for Cancer Research.

1 May 2014

Genetic susceptibility, dietary antioxidants combine to reduce AMD risk

Dietary intake of antioxidants is associated with a reduced risk of developing early age-related macular degeneration in people at high genetic risk of the condition, pooled analysis of two studies suggests.

1 May 2014

Physical activity reduces hippocampal atrophy in elders at genetic risk for Alzheimer's disease

A study of older adults at increased risk for Alzheimer's disease shows that moderate physical activity may protect brain health and stave off shrinkage of the hippocampus- the brain region responsible for memory and spatial orientation that is attacked first in Alzheimer's disease.

25 Apr 2014

Two candidate mTOR therapy biomarkers identified in RCC

Two genes, TSC1 and MTOR, warrant further investigation as biomarkers for treatment benefit with rapalogs in patients with renal cell carcinoma, indicate study results published in Clinical Cancer Research.

14 Apr 2014