Time to pop the champagne – 100,000 genomes have been reached. Well done Genomics England!
Efficiently translating genomic research into the clinic is one of the most important steps in the development of the field. The clinic is where we will see things come to fruition.
A universal test which can detect traces of any cancer in a patient’s bloodstream in ten minutes has been developed by scientists from the University of Queensland. As it stands the test has a sensitivity of 90%, so is able to detect 90 in 100 cases of cancer.
Certain genetic processes of neurodegeneration, as seen in dementia, have been identified by a research team led by UCLA scientists. Two major groups of genes which create over-productions of the tau protein, which is integral to loss of neurons seen in major dementia forms, were found using mouse models of dementia, although the researchers performed additional experiments which determined the same processes occur in human brains.
There is a large genetic component to attention deficit/hyperactivity disorder (ADHD), a study published recently in Nature Genetics has confirmed. The study assessed 20,183 individuals diagnosed with ADHD and 35,191 controls, finding variants in 12 independent loci which all contribute to ADHD.
Despite what was previously thought, some mitochondrial DNA can be inherited from fathers as well as mothers, scientists have found. A study, published recently in PNAS, began when the Cincinnati Children’s Hospital Medical Centre tested a child showing signs of fatigue and muscle pain to see if he had a mitochondrial disorder.
Twin girls in China have allegedly been born after having their embryonic genetic code modified using CRISPR. Chinese researcher He Jiankui, from the Southern University of Science and Technology, claims to have turned off a gene called CCR5 to offer total protection against HIV, as well as smallpox and cholera.
Pharmacogenetic tests are marketed as an aid to psychiatrists in selecting the antidepressant or antipsychotic medication that will work best in individual patients. But for most patients, these pharmacogenetic tests don’t provide much useful information.
Cancer scientists led by principal investigator Dr. Daniel De Carvalho at Princess Margaret Cancer Centre have combined “liquid biopsy,” epigenetic alterations and machine learning to develop a blood test to detect and classify cancer at its earliest stages.
STAT news have put together a great article assessing the need for health care systems to get on top of the payment issue quickly. Give it a read!
Scientists have found a cause for the frequent and damaging events in cancer cells’ genetic material where sections of individual chromosomes were broken at a number of points and reassembled wrongly, so entire sections were missing and others were duplicated or incorporated in a wrong orientation.
Tumours are helped in their development by mutating the most important cancer-prevention gene, p53, scientists from Melbourne have found. The study, published in Genes and Development, found that mutant p53 prevents the regular p53 protein from activating its natural defences, increasing the risk of the cancer spreading.