Healthcare

Genomics will change what patients expect from their provider, as well as change how physicians treat them. Before this happens, education on both sides is needed. This month we look at some of the big talking points.

Autism-Causing Variations Found in “Junk” DNA

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.

First Lifeform Created with Fully Redesigned DNA

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.

Unlocking the Promise of DNA Sequencers: An Interview with Ben Langmead

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.

Researchers Identify Potential New Metastasis Biomarker

Yale University researchers have discovered a potential new biomarker for identifying individuals with increased risk of prostate cancer metastasis. The findings announced that mitochondrial protein syntaphilin is vital in determining the balance between tumour cell proliferation and tumour cell invasion, and is expressed significantly at the invasive tumour edge in prostate cancer.

Gene Therapy Could Heal Cells After Heart Attack

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.

Genomic Innovations Will Bring Increased Legal Action

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.

New Polygenic Risk Score Gives Hints Towards Obesity Risk

A new polygenic risk score tested data from 300,000 people to forecast risk of obesity. The study found that 10% of adults with the highest genetic risk were 25 times more likely to become severely obese than the 10% whose genes were most likely to keep them slim.

The Rise of Population-scale Genomic Projects for Pharma R&D Investments

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.

The One-Stop Guide to Genomic Data, Courtesy of Front Line Genomics

Front Line Genomics’ “Biodata Analysis and Management – Genome Analytics, Interoperability, and Data Life Cycle” report isn’t just an update of our old Genomic Data 101 guides: packed with new information on AI and machine learning,. data discoverability and data interoperability, it is much much more.

Patients with Rare Diseases Identified Through Genomics England’s Discovery Forum

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.

An Interview with SOPHiA GENETICS: STS and the CE-IVD Designation

SOPHiA GENETICS’ Solid Tumor Solution (STS) application was recently granted a CE-IVD designation, a regulatory stamp that a product has satisfied the EU’s in vitro diagnostic device requirements. We spoke to Gioia Althoff, SOPHiA’s Senior Vice President, Genomics Business Area, about the STS application and where SOPHiA is going from here.