Princeton University researchers have used AI techniques to uncover junk DNA mutations which can lead to autism. The findings are the first to link functionally link mutations in regulatory DNA with a disease like autism, and possibly prove that the changes affect how genes are expressed in the brain.
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.
Researchers from the Australian National University have discovered two rare genetic mutations linked to Lupus, the first time a cause of the disease has been determined. Before this study, it was believed the two mutations, BLK and BANK1, had little role in human autoimmunity and related diseases.
A drug developed in part by Indiana University School of Medicine to alleviate the symptoms of X-linked hypophosphatemia (XLH), a disease which softens bones, has proven significantly more effective than conventional therapies.
Cambridge University scientists have created the first living organism with fully synthetic DNA radically altered from its original state. The strain of E coli was given a smaller set of genetic instructions than its counterparts, proving life can continue with such a restricted code.
Dr Ben Langmead is a computational biologist and assistant professor in the Computer Science Department at Johns Hopkins University, most famous for his creation of the Bowtie and Bowtie 2 sequence alignment algorithms, used to improve sequencing alignment quality. FLG spoke to Dr Langmead about his lab, his recent work using the Stampede2 supercomputer cluster to optimise sequencing data analysis software, and the future for DNA sequencers as a whole.
Gene therapy can make heart cells regenerate after a heart attack, King’s College London researchers have found. The study, published in Nature, stated that a small piece of genetic material called microRNA-199 delivered into a pig’s heart after myocardial infarction resulted in almost total cardiac recovery a month later.
Swiss scientists have found a potential new way to block metastasis, with promising results demonstrated in mice. The researchers have found a “barrier”, built by the Activin B protein and a receptor called ALK7, the combo of which prevents tumours from spreading through the body.
When the MDM2 gene acts with a specific protein found in cancer cells’ mitochondria, it can lead to cancer cell death. The study which discovered this fact, published by Mount Sinai researchers in Molecular Cell journal, could open new treatment opportunities for cancer patients in the future.
The ATDC gene has been identified as necessary for the development of pancreatic cancer. Deleting the gene in pancreatic cells led to “one of the most profound blocks of tumour formation ever observed in a well-known mice model engineered to develop pancreatic ductal adenocarcinoma”.
Network algorithms can improve cancer treatment effectiveness by better determining how genes interact, researchers from the University of Sussex have found. The algorithm built by the scientists, Slant, uses current data to find patterns associated with being part of a synthetic lethal interaction.
Questions around legality, protecting privacy and ensuring quality of data in DNA sequencing all need answering, a symposium recently held at the University of Minnesota has announced. LawSeq, a $2 million project looking to solve the issue of privacy and legality in sequencing, is exploring how to ensure the legal world catches up with current science.
Genetic research is a big data problem without researchers generally having access to this “big” genomic and medical data. Not only has it been nearly impossible to access enough relevant data to support research, but analysing the data has been slow and challenging due to its sheer volume. To counter this, in recent years a number of pharmaceutical companies have announced large-scale collaborations around genomic data to uncover novel drug targets, validate existing drug pipelines, predict response, and expand therapeutics use. We discuss some of the biggest and most recent.
Two companies with access to data from the 100,000 Genomes Project have identified patients with previously undiscovered life-threatening kidney and neurological diseases. The companies, Alexion and BioMarin, were part of Genomic England’s Discovery Forum, which grants certain industry research proposals access to data from the project after vetting.
Cambridge and London researchers have created a database of DNA mutation “fingerprints” which can be used to determine the environmental factors contributing to a patient’s tumour. The study, published in Cell journal, can determine 41 different environmental agents linked to cancer, including the traces left in lung tumours by chemicals linked particularly to tobacco smoke.
The rules that cells use to determine which genes they must activate and under what conditions have been further uncovered by scientists at New York University. The findings develop the understanding around how gene variants affect phenotypic traits.