When considering the clinical applications of computational genomics, the true challenge stems from both the nature of the processed genomic data and the purpose behind processing it. The clinical context renders analyses useful only if their results meet rigorously defined standards and can be provided on time. Scalability to tens of thousands of samples is […]
Disruptive science can have a significant impact outside of our own domains of research and into our personal lives. Keeping abreast of these developments can help prepare and inspire.
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.
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.
Researchers at the Salk institute have discovered a way in which some cancers resist chemotherapy. Published in Nature Metabolism, they showed that mitochondria can signal to the rest of the cell when there is stress or chemicals that can damage DNA, such as chemotherapy.
Researchers at Kuwait University and Amri Hospital, Kuwait have been the first to study the risk of the FTO allele rs9939609 on disability progression in patients with multiple sclerosis (MS). This allele has been thoroughly studied in its link with obesity, however no study has linked the FTO gene to MS
A new non-invasive method to detect the presence of human papilloma virus (HPV)-16 in saliva has been successfully used in a collaboration between Duke University, UCLA, and University of Birmingham. HPV-16 is a high-risk virus known to be an etiologic agent for the development of head and neck cancers, specifically with oropharyngeal caners (OPCs).
Scientists at Massachusetts General Hospital (MGH) and the Psychiatric Genomics Consortium have discovered that many distinct psychiatric diseases share a common genetic basis. More than 100 genetic variants were found to play a role in determining risk levels for different mental health conditions.
Researchers at University of California San Diego School of Medicine have discovered a genetic variation that influences the expression of the mutant CFTR protein on the cell surface of Cystic Fibrosis sufferers.
We met with Chris Wigley, CEO and Sir Mark Caulfield, Chief Scientist at Genomics England, at the first Genomics England Research conference taking place in November 2019 in London. We started by asking them how Genomics England is getting on with their objectives.
Computer scientists at the Carnegie Mellon University in Pittsburgh have developed a digital method to transform massive amounts of gene expression data into something more image-like. Published in the Proceedings of the National Academy of Science, the scientists utilised an incredibly powerful deep learning method that has revolutionised methods such as facial recognition in recent years.
The immunotherapy drug Blinatumomab has shown to be an effective treatment for children and young adults with relapsed B-cell acute lymphoblastic leukaemia in a clinical trial led by the Children’s Oncology Group, part of the National Cancer Institute USA, and presented at the annual meeting at the American Society of Haematology.
The cause of a rare type of familial epilepsy has been linked to two new gene mutations, as discovered by researchers from the Walter and Eliza Hall Institute. Published back-to-back in Nature Communications, Dr Mark Bennett, Dr Haloom Rafehi and Professor Melanie Bahlo from the Institute made this ground-breaking discovery as part of an international consortium.
New research published in the British Journal of Cancer has identified a link between the so-called “junk DNA” and the risk of developing cancer. Junk DNA refers to regions of DNA that don’t code for proteins but are thought to play in a role in gene expression regulation