It has been a very eventful few weeks, especially on the regulatory front. Meanwhile, I have been writing another article with Sarah on the regulation of genetically modified animals, watch this space.
Gene-editing and gene therapy
- Spark Therapeutics Luxurna has become. It stops the progression of a rare retinal disease.
- , an individual with the metabolic disease Hunter Syndrome has been injected with a treatment based on Zinc Finger Nucleases and a “correct” copy of the enzyme that his body lacks.
- For the first time, , using an antisense drug now licensed by Roche. The drug selectively binds to mRNA made from the mutated HTT gene.
- . The technique is based on CRISPR.
- Biohacker Josiah Zayner made headlines by designed to inhibit myostatin. US law allows for researchers to experiment on themselves. Meanwhile a . Two companies have said that they will continue to , despite FDA warnings.
- A new (rather than cleaving DNA). The paper introducing the technique includes encouraging results on mouse models of Muscular Dystrophy and kidney disease.
- Start-up Inscripta want to . While Cas9 is the enzyme at the core of the IP battle between Berkeley and the Broad, they have made their enzyme, MAD7, publicly available.
- in the NEJM. To the standard slippery slope arguments he retorts: “we often regulate practices on the basis of ethical costs and benefits at specified points along a continuum — for example, speed limits, blood alcohol levels, and age limits. We already embrace many enhancements inherited over multiple generations — generally without consulting future grandchildren — for example, education, homes, and extinction of pathogens through the use of vaccinations.”
- Craig Venter, he of genome sequencing fame, argues that we should be putting our efforts into continued genomic sequencing and analysis, and that .
- Moderna has started its .
- The Economist reviews the fledgling to promote health. Seres therapeutics have launched a clinical trial to test their .
- Specific .
- A highly conserved long, non-coding .
- A blog post that steams through our , which relegates targeted therapies to the history books, and points to, in which cancer cells are regarded as having reverted to single-cell organism behaviors, as the current paradigm.
- The has been discovered by analysis of an Amish population. Two copies of the variant in SERPINE1 lead to a rare bleeding disorder; one copy leads to longer telomeres and an increased live-span averaging 10%.
- Based on analysis of flies that had been selected based on whether they were extreme short or long sleepers, many candidate loci that can help have been uncovered. These overlap heavily with the usual suspect genes — i.e. genes involved in major pathways: “The involvement of highly pleiotropic pathway genes suggests that sleep duration in natural populations can be influenced by a wide variety of biological processes, which may be why the purpose of sleep has been so elusive.” There was no difference in lifespan between naturally shorter- and longer- sleeping flies.
- Genetic sequencing of a that researchers hope will eventually help our understanding of chronic pain.
- The Personal Genome Project, a George Church brainchild whose members contribute their genomic and phenotypic data to the research community, has , where it will be the country’s first open science initiative. Says Church, “I have ridiculously high hopes.”
- An , who have sequenced >100,000 exomes to date and are headed to a 400-500,000 exomes a year. Their strategy is to partner with groups who have large cohorts of patients with phenotypic data attached, most notably Geisinger Health System and the UK BioBank. They then look for the genetic outliers for ideas of drugs to develop.
- Some , i.e. the fight that some parents take-up when faced with a diagnosis of an extremely rare condition for a child.
- Three dozen genomes of supercenterians (age >110) have been made publicly available. Supercenterians, unlike centerians, tend to live healthy lives up until the end. This NYT article goes into the .
- Genetic variation in the GPCR family of genes (G-protein-coupled receptors), which are targets of about a third of FDA approved therapies, are thought likely to .
- A write-up of a conversation at the AMP conference on the .
- A of a suspect in a murder case lead to his arrest and confession.
- An overview of the evidence that there were to populate the rest of the world.
- UK biobank data has been used to demonstrate .
- Bacteriophages – viruses that affect bacteria – were formerly believed not to interact with eukaryotic cells, but have now been shown to be absorbed into human cells in the gut, prompting talk of the , and hypotheses about its role in human health and disease.
- Scientists have , claiming “The resulting semi-synthetic organism both encodes and retrieves increased information and should serve as a platform for the creation of new life forms and functions.”
- . The protein trim21 recognizes antibodies, and passes whatever the antibody is tagging to the proteasome – the cell’s destroyer of unwanted proteins. By designing antibodies to target specific proteins, or even variants on these proteins, and delivering them alongside extra trim21, the method can selectively destroy particular proteins.
- , a deep-learning technique for variant calling that it claims produces more accurate results than previously existing software, by transforming the problem into one of image analysis.
- in seed-funding. They will reward those who contribute their DNA for research, and provide increased security, with their own blockchain based coin.
Regulation and coverage
- . Currently, a Californian woman with a positive BRCA result could legally be denied a mortgage on the basis of decreased life expectancy.
- On the 14th Nov the The US Senate Committee on Health, Education, Labor, and Pensions held a hearing on CRISPR genome editing. I have yet to listen to itself, but this makes it comes across as somewhat self-congratulatory in terms of regulatory approach. The ranking senator apparently called on scientific consensus on the ethical questions, which are not words I expected to ever come across strung together in that order.
- On , GenomeWeb summarizes nicely: “The agency Memorial Sloan Kettering Cancer Center’s MSK-IMPACT (Integrated Mutation Profiling of Actionable Cancer Targets) through the de novo premarket review pathway as a Class II, moderate-risk device, and simultaneously made the New York State Department of Health a third-party reviewer of IVDs, including similar tumor profiling assays. Subsequently, other labs can apply to the FDA for 510(k) clearance — a less onerous path than premarket approval — for their tumor profiling NGS panels. Or, if the test already has approval through the NYSDOH, sponsors can submit that application to the FDA and ask the state regulator to forward its review documents and recommendations.”
- Meanwhile the .
- A perspective in the NEJM that . The authors argue that the Regulatory Accountability Act, a version of which will so go before the Senate, will actually stifle innovation because regulation will not be able to keep up with technology, and it will be harder to retire old regulation.
- The FDA has issued a flurry of new proposed guidance, two on running of clinical trials for targeted therapies (one on the design of assays for trials , one on appropriately exempted diagnostic tests ), and one on clinical and patient decision support software .
- T The ban was instituted in 2014 when based on research that developed a virus that was more easily transmitted.
- A group of for the use of gene drives, as part of a coordinated response to the NASEM report that concluded that gene drives were not ready for deployment, based on currently available evidence.
- A of those charged with crimes, based on data from Denmark, where they massively increased their DNA collection rate: “Our results thereby show that policies that increase the identification of criminal offenders are an effective tool to reduce crime and increase public safety,”