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New angle of attack on spinal muscular atrophy (SMA)
Spinal muscular atrophy (SMA) in its most severe form is incurable and fatal in early childhood, but now researchers are mounting a multi-pronged attack for patients and their families.
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Gene Testing
Gene testing is a type of medical test that identifies changes in chromosomes, genes, or proteins.
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DNA: discovering a new mechanism of epigenetic inheritance
Scientists have demonstrated the existence of transgenerational epigenetic inheritance (TEI) among Drosophila fruit flies...
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Link discovered between immune system, brain structure and memory
The body's immune system performs essential functions, such as defending against bacteria and cancer cells. However, the human brain is separated from immune cells in the bloodstream by the so-called blood-brain barrier. This barrier protects the brain from pathogens and toxins circulating in the blood, while also dividing the immune…
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Removing old cells could extend joint health & stop osteoarthritis
In a preclinical study in mice and human cells, researchers report that selectively removing old or 'senescent' cells from joints could stop and even reverse the progression of osteoarthritis.
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Q BioMed and Asdera LLC to develop rare paediatric disorder treatment
Among the more than 60,000 US children who develop autism spectrum disorders (ASD) every year, 20,000 become nonverbal or lose the ability to speak. The numbers are similar in Europe and this nonverbal group will have to rely on assisted living for the rest of their life.
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New potential treatment for aggressive brain cancer in children
Using state-of-the-art gene editing technology, scientists have discovered a promising target to treat atypical teratoid/rhabdoid tumour (AT/RT) - a highly aggressive and therapy resistant brain tumour that mostly occurs in infants.
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Premature cell differentiation leads to disorders in pancreatic development
Neonatal diabetes mellitus (NDM), or diabetes among infants less than six months of age, is a rare form of diabetes caused by a mutation in genes crusial to the development or function of beta cells. In about half of such cases, the disease becomes permanent (PNDM). Mutations in more than…
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Genomic data portal Repositive receives £2.5 million in funding
Repositive, the company that created the world’s largest portal for accessing human genomic research data, has closed a Series A funding round of £2.5 million.
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Elimination of specific neurons outside the brain by new technique triggers obesity
A research team from Instituto Gulbenkian de Ciencia (IGC, Portugal), developed a new genetic technique that allows the elimination of specific neurons of the peripheral nervous system without affecting the brain.
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Novel genes identified that help suppress prostate and other cancers
New genes which help prevent prostate, skin and breast cancer development in mice have been discovered by researchers at the Wellcome Trust Sanger Institute and their collaborators.
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Can genetic testing determine antimicrobial susceptibility?
Experts at EUCAST have found that genetic methods cannot yet be used to test for susceptibility in a number of important bacterial species.
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CRISPR gene editing could treat sickle cell disease
15 August 2016 | By Niamh Louise Marriott, Digital Content Producer
Foetal haemoglobin lacks beta sub-units and has gamma sub-units instead. Thus, beta-thalassemia or SCD–associated mutations, which impair the production or function of the beta sub-unit, do not cause problems with foetal haemoglobin, which can transport oxygen effectively in adults...
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Prospective biobank studies can help improve drug development
15 June 2016 | By Victoria White, Digital Content Producer
According to a study, genetic research in large-scale prospective biobank studies can significantly improve the drug development pipeline and reduce costs...
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DNA from 20,000 people to help discover new treatments for diabetic kidney disease
3 June 2016 | By Victoria White, Digital Content Producer
Researchers are to examine DNA samples from 20,000 people with diabetes to help identify the genetic factors in diabetic kidney disease...
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Channel-blocker drug helps restore vision in mice with optic nerve injury
14 January 2016 | By Victoria White
Researchers were able to restore vision in mice by using gene therapy to get the nerves to regenerate and adding a channel-blocking drug to help the nerves conduct impulses...