How the New NHS Genomic Medicine Service Sets to Provide a Diagnosis in Just Days

3 January 2020

Genetic and genomic testing has been a hot topic in the healthcare industry in recent years. The NHS has introduced a Genomic Medicine Service (GMS) in an aim to ensure equitable access to genetic and genomic testing and integrate this into routine NHS care by 2025, driving more personalised treatments for patients in the process.

2 January 2020

A New Way to Predict the Progression of Alzheimer’s Disease

Researchers have investigated the use of PET imaging to see whether beta-amyloid and tau can predict subsequent brain atrophy in Alzheimer’s disease. Published in Science Translational Medicine, the findings showed that tau tangles could be used to predict how much shrinkage will occur and where, which was particularly strong in younger patients.

2 January 2020

He Jiankui Sentenced to Three Years in Prison & a Third CRISPR Baby Confirmed

Earlier this week, He Jiankui, the scientist behind the world’s first gene-edited twin babies, was sentenced to three years in prison and fined three million yuan (£327,000) for “illegal medical practice”. In late 2018, He Jiankui along with his team carried out CRISPR gene editing on twin girls, dubbed Lulu and Nana, to provide immunity against HIV.

23 December 2019

Liver Fat Leaks Linked to Type 2 Diabetes

Researchers at Newcastle University, UK have been the first to confirm that fat over-spills from the liver into the pancreas can trigger Type 2 diabetes. Published in Cell Metabolism, the researchers observed the link between excess fat within both the liver and pancreas and the development of Type 2 diabetes, and how this condition can be reversed.

23 December 2019

Detecting Leukaemia with Artificial Intelligence

Researchers at the German Centre for Neurodegenerative Diseases (DZNE) and the University of Bonn have investigated the use of artificial intelligence to detect one of the most common forms of blood cancer – acute myeloid leukaemia (AML) – with high reliability. Published in iScience, the technique was used to analyse the expression of certain genes in cells of the blood.

20 December 2019

Predicting Breast Cancer Recurrence After 10-Years with MRI Scans

Researchers at Penn Medicine have developed an imaging technique that can provide a non-invasive characterisation of tumour heterogeneity. They used Magnetic Resonance Imaging (MRI) and radiomics – an emerging field of medicine that uses algorithms to extract large amounts of features from medical images

20 December 2019

The New Genetic Risk Score for Ischaemic Stroke

Scientists have developed a new genetic risk score that is similarly or more predictive than commonly known risk factors for stroke. They developed this meta-scoring approach model to identify individuals at a 3-fold increased risk of developing ischaemic stroke – one of the leading causes of disability and death world-wide

19 December 2019

Asthma Could be Linked to Your Airway Microbiome

Microbes are well known to form entire communities in our guts – or microbiomes, but less is known about the communities we have in our lungs. Researchers from Washington University School of Medicine in St. Louis investigated the correlation between microbial colonisation in the upper airway and the severity of asthma symptoms

18 December 2019

Female Scientists More Likely to Downplay Their Work

An observational study looked at how scientists present the importance of their research according to gender, and revealed striking findings. Published in the BMJ, the first known study of its kind revealed that a more positive presentation of research findings was associated with increased downstream citations, and that men were more likely than women to show their work in a positive light.

18 December 2019

Ancient DNA in Neolithic Chewing Gum Reveals Owner, Diet, and Health

In southern Denmark, researchers excavated a lump of ancient chewing gum made from birch tar from a shallow lagoon. A young woman living around 5,700 years ago had discarded her gum which was recently found among pieces of wood and wild animal bone during an archaeological excavation.

17 December 2019

George Church Robustly Defends his “DNA Dating App”

George Church of Harvard University has been under heavy scrutiny after news broke out of a new “DNA Dating App” he has been involved in developing, during a recent interview with 60 minutes. The news has led to a significant backlash from some quarters, including from some within the genomics community, that the app is unethical and represents a form of eugenics.

17 December 2019

Shareable Science: 18,000-year-old Puppy Could help Explain how Wolves Became Dogs

Scientists are all about new discoveries. As it turns out, we get especially excited when those “new discoveries” are thousands of years old. Researchers in Russia recently unveiled an 18,000-year-old puppy that was preserved in permafrost. The animal is somewhere between a wolf and a dog, and that ambiguity speaks to the oft-pondered mystery of how the two species diverged.

16 December 2019

Peanut Allergy Severity – Blame the Genome

Novel genes associated with the peanut allergy severity and the way the genes interact together have been identified by researchers at the Icahn School of Medicine at Mount Sinai. The findings from this study could lead to the development of better treatments and approaches to identify biomarkers that can predict the severity of a peanut allergy before exposure.