Genetics

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Clinical computational tools

Managing cancer more effectively

Computational approaches are being applied on enormous amounts of data from sequencing technologies to develop tools to help clinicians manage cancer more effectively.

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Cardiology research

Covid-19 vaccine technique could also save tissue after heart attack

A method for delivering genetic material to the body that has proven useful in Covid-19 vaccination is now being tested as a way to repair damaged heart muscle after a heart attack.

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Artificial brains

Brain organoids help understand autism

Scientists use miniature brain models to understand how a mutated gene affects brain development.

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Genetic dystrophy repair

Using mRNA to improve muscle strength

An ECRC research team has introduced CRISPR-Cas9 into human muscle stem cells for the first time using mRNA, thus discovering a method suitable for therapeutic applications.

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From decades to days

Single test for over 50 genetic diseases cuts diagnosis

A DNA test has been shown to identify a range of hard-to-diagnose neurological and neuromuscular genetic diseases quicker and more-accurately than existing tests.

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Causal link found

Does your blood group affect risk for severe Covid-19?

A new study has analyzed over 3000 proteins to identify which are causally linked to the development of severe Covid-19. This provides insight into potential new targets for treatment and prevention.

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DNA analysis

Should all babies have their genome sequenced at birth?

Genomics England, a government owned company, recently announced a pilot programme of whole genome sequencing to screen for genetic diseases in 200,000 healthy seeming newborns. But should every newborn baby have their whole genome sequenced? Experts debate the issue in The BMJ. Extensive clinical evidence has shown that screening for genetic diseases saves lives, and research has shown that it…

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NGS-based diagnostics

Collaboration on early detection of recurrent breast cancer

Together with Imperial College London (‘Imperial’), molecular diagnostics company DNAe has been awarded a UK Knowledge Transfer Partnership (KTP) by Innovate UK to support development of its next generation sequencing (NGS)-based diagnostic platform for use in cancer monitoring. The KTP program connects innovative businesses with academic experts who can help them deliver their ideas. This…

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'CRyPTIC' research

Global tuberculosis study identifies genetic causes of drug resistance

Using cutting-edge genomic sequencing techniques, researchers at the University of Oxford have identified almost all the genomic variation that gives people resistance to 13 of the most common tuberculosis (TB) drug treatments. The Comprehensive Resistance Prediction for Tuberculosis International Consortium (CRyPTIC) research project has collected the largest ever global dataset of clinical M.…

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Prevention of toxic DNA lesions

Promising mechanism to stop Huntington's progression

A new mechanism that stops the progression of Huntington’s disease in cells has been identified by scientists at the University of Cambridge and University College London (UCL), as part of their research groups at the UK Dementia Research Institute. Researchers say the breakthrough study, published in Cell Reports, could lead to much needed therapies for the rare genetic disease, which is…

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Regulatory issues

Genetic data privacy, the GDPR, and research needs: a delicate balance

The EU’s General Data Protection Regulation (GDPR) has created a great deal of uncertainty about how key requirements should be interpreted. This means that collaborators in international genetic research projects do not always agree on fundamental issues such as whether they are processing personal data, consent requirements under the GDPR and on what basis genetic data can be transferred…

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Precision oncology

Personalized health and genomics: Minimizing collateral damage

A solid diagnosis has always been the first step on any patient’s journey to health. However, diagnostic categories are necessarily oversimplifications. In the last decades, medical professionals and scientists have begun to uncover the true variability in patients’ physiological and biochemical make-up that is the principal cause for individual variations in the way diseases present…

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Genome editing

Using CRISPR to speed up Covid-19 testing

A research team led by scientists in the labs of Jennifer Doudna, David Savage and Patrick Hsu at the University of California, Berkeley, is aiming to develop a rapid Covid-19 diagnostic test that is much faster and easier to deploy than qRT-PCR. It has now combined two different types of CRISPR enzymes to create an assay that can detect small amounts of viral RNA in less than an hour. Doudna…

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Controlling KRAS

New targeted gene therapy could stop lung cancer progression

A newly targeted therapy could help millions of lung cancer patients worldwide keep their cancers from spreading, says an expert at Cleveland Clinic, on the occasion of World Lung Cancer Day. Dr. Khaled Hassan, of the Hematology and Medical Oncology Department at Cleveland Clinic, explains the concept of KRAS targeted therapy – and why the approach should not be mistaken for a cancer cure.

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Tool to identify tumour mutations

Machine learning fuels personalised cancer medicine

The Biomedical Genomics laboratory at the Institute for Research in Biomedicine (IRB) Barcelona has developed a computational tool that identifies cancer driver mutations for each tumour type. This and other developments produced by the same lab seek to accelerate cancer research and provide tools to help oncologists choose the best treatment for each patient. The study has been published in the…

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Genetic alterations

Same mutation, different cancers: researchers explore connections

Why do alterations of certain genes cause cancer only in specific organs of the human body? Scientists at the German Cancer Consortium (DKTK), the Technical University of Munich (TUM), and the University Medical Center Göttingen have now demonstrated that cells originating from different organs are differentially susceptible to activating mutations in cancer drivers: The same mutation in…

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Leading cause for blindness

Breakthrough in research on age-related macular degeneration

Age-related macular degeneration (AMD) is the most common cause of blindness in developed countries affecting seven million in total in Germany, from which 500,000 people are suffering from late stage disease, around half of whom are registered as visually impaired. There are two forms of AMD, ‘wet’ and ‘dry’. There are currently no treatments available for the dry form of the disease…

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