Karen Lighting Jones, Head of Future Place at Roche. Back in 2016, Dame Sally Davies concluded her Chief Medical Officer annual report by saying “Genomics is not tomorrow, it’s here today. I believe genomic services should be available to more patients, whilst being a cost-effective service in the NHS”.
Interview with Dr Cecilia Domínquez Conde, Postdoctoral Fellow, Teichmann Lab, Wellcome Sanger Institute
Dr Cecilia Dominguez Conde is a postdoctoral fellow at the Teichmann Lab, Wellcome Sanger Institute. During her PhD, she discovered DOCK2 and POLD immunodeficiencies, and her current work focuses on studying the human immune system across different body sites and unravelling the clonal distributions of T and B lymphocytes. Cecilia is speaking at this years Festival of Genomics, and we found out what she’s looking forward to the most.
The largest study on autism spectrum disorders (ASD) to date has identified 102 genes involved in the disorder, including 37 new genes that had not been recognised before. Published in Cell, the findings help researchers better understand the causes of the disorder, and could possible help in developing new drug therapies for children with severe impairments.
Researchers at QIMR Berghofer Medical Research Institute and Flinders University, Australia have identified 107 genes associated with increased risk of developing glaucoma. The researchers also developed a genetic test to screen those who are at risk of developing the condition, in the hopes of intervening before symptoms of the disease, such as vision loss, occur.
A new blood test that could predict the onset of tuberculosis (TB) three to six months before people become sick has been discovered by researchers at University College London. The researchers identified gene expression signatures present in the blood of people with early, asymptomatic TB infection that could predict the disease before symptoms arise.
Scientists at the Broad Institute of MIT and Harvard and Dana-Farber Cancer Institute have found that drugs used for inflammation, diabetes, alcoholism, and arthritis also have anti-cancer properties. Published in Nature Cancer, this is the first study to screen an entire collection of mostly non-cancer drugs to see if they can kill cancer cells.
New research from the University of California, Riverside has shown that America’s most widely consumed oil – Soybean oil – can affect neurological conditions such as anxiety, depression, autism, and Alzheimer’s disease. The work builds upon previous studies that have identified a number of health risks associated with the oil, such as obesity and diabetes.
Dr Alfredo Iacoangeli is a post-doctoral researcher at King’s College London whose aim is the development of a high throughput gene, environment and epigenetics database and analysis system for international ALS research. We managed to have a chat with Alfredo ahead of him speaking at the Festival of Genomics about his work, and why he’s excited to be a part of the festival this year.
New research has identified a possible reason why men are more susceptible to cancer than women. The work published in the Journal of the National Cancer Institute reports that the loss of function in certain genes of the sex-determining Y chromosome may play a role in this.
A new discovery by a Japanese team has identified a type of microorganism called an Asgard archaeon, which could shed light on how early eukaryotic cells evolved. The project took 12 years after finding the cells in deep-sea mud. The findings of the closest Archaeal relative to eukaryotes cultures so far will allow further detailed cellular and metabolic investigation and find out more about the origins of complex life.
Researchers at Carnegie Institution for Science, USA have discovered a mechanism in which the body tries to eliminate egg cells of the poorest quality. The findings indicate that this elimination during foetal development is related to a transposable element, or “jumping gene”, called LINE-1 that promotes the survival of eggs with more “jumping gene” activity.
A team of international researchers have conducted a genome-wide association study (GWAS) to identify genes responsible for high population-levels of alcohol consumption. They used genomic data from the UK Biobank and a US study to pinpoint the genes responsible, identifying six loci that could be associated with alcohol use disorder (AUD).
Bioengineers based in the US have designed a “DNA-binding editorial assistant” that will allow gene-editing technology, like CRISPR, to access previously inaccessible genes of interest. The new protein design can be used to open up areas of the DNA that are obscured by chromatin, which would improve CRISPR efficiency and aid in developing more precise gene-editing techniques to combat disease.
Dr Gemma Chandratillake is the Education and Training Lead for the East Midlands and East of England NHS Genomic Laboratory Hub. She is passionate about the potential of genomics to improve healthcare, and works creatively to facilitate the mainstreaming of genomics within the NHS. We managed to have a chat with Gemma ahead of her […]
Researchers from the Cold Spring Harbor Laboratory (CSHL) and Memorial Sloan Kettering Cancer Center (MSK) have discovered that Acute Myeloid Leukaemia (AML) grows by taking advantage of the B6 vitamin to accelerate cell division. The findings could pave the way for a treatment that can stop cancer growth by manipulating the enzyme that pushes B6 to make proteins essential for cell division.