Genetic Engineering

Correction of a pathogenic gene mutation in human embryos

From Correction of a pathogenic gene mutation in human embryos – Nature

Genome editing has potential for the targeted correction of germline mutations. Here we describe the correction of the heterozygous MYBPC3 mutation in human preimplantation embryos with precise CRISPR–Cas9-based targeting accuracy and high homology-directed repair efficiency by activating an endogenous, germline-specific DNA repair response.

Induced double-strand breaks (DSBs) at the mutant paternal allele were predominantly repaired using the homologous wild-type maternal gene instead of a synthetic DNA template. By modulating the cell cycle stage at which the DSB was induced, we were able to avoid mosaicism in cleaving embryos and achieve a high yield of homozygous embryos carrying the wild-type MYBPC3 gene without evidence of off-target mutations.

First Human Embryos Edited with CRISPR in US

From First Human Embryos Edited in U.S. – MIT Technology Review

The first known attempt at creating genetically modified human embryos in the United States has been carried out by a team of researchers in Portland, Oregon, MIT Technology Review has learned. The effort, led by Shoukhrat Mitalipov of Oregon Health and Science University, involved changing the DNA of a large number of one-cell embryos with the gene-editing technique CRISPR

To date, three previous reports of editing human embryos were all published by scientists in China.

Now Mitalipov is believed to have broken new ground both in the number of embryos experimented upon and by demonstrating that it is possible to safely and efficiently correct defective genes that cause inherited diseases.

One week later, additional details emerge.

From US scientists have corrected a genetic heart mutation in embryos using CRISPR | TechCrunch

Shoukhrat Mitalipov and his colleagues from Oregon Health and Science University have successfully used the CRISPR Cas9 gene editing technology to wipe out a genetically inherited heart mutation in embryos.

Mitalipov and his colleagues were able to avoid the previous mistakes made by the Chinese scientists by injecting the Cas9 enzyme (which acts as a sort of scissors for DNA fragments) into the sperm and eggs at the same time.

What an incredible moment in history to witness.

Amazon has a secret unit called 1492 focused on health tech

From Amazon 1492: secret health tech project

The stealth team, which is headquartered in Seattle, is focused on both hardware and software projects, according to two people familiar. Amazon has become increasingly interested in exploring new business in healthcare. For example, Amazon has another unit exploring selling pharmaceuticals, CNBC reported in May.

The new team is currently looking at opportunities that involve pushing and pulling data from legacy electronic medical record systems. If successful, Amazon could make that information available to consumers and their doctors.
1492 Conquer of Paradise.

I wouldn’t be surprised if long-term goal of this unit would be, just like for Google’s Verily, genetic engineering and anti-aging medical research.

New protein AcrIIA4 increases CRISPR-CAS9 precision

From This DNA-mimicking protein can make gene editing more precise and safe – The Verge

Even though gene-editing tools like CRISPR-Cas9 are very precise, they sometimes snip pieces of DNA they weren’t programmed to cut. These off-target cuts can be dangerous, and scientists have been trying to find ways to prevent them.

The researchers found that the protein AcrIIA4 mimics DNA so that it can bind to the Cas9 enzyme, blocking it from attaching to actual DNA and cutting it.

Finally, the researchers added AcrIIA4 a few hours after adding the Cas9; that prevented CRISPR from cutting DNA at the wrong sites, while still allowing time for cutting at the right sites.

New Study Demonstrates Potential for AI and Whole Genome Sequencing to Scale Access to Precision Medicine

From IBM News room – 2017-07-11 Study by New York Genome Center and IBM Demonstrates Potential for AI and Whole Genome Sequencing to Scale Access to Precision Medicine – United States

researchers at the New York Genome Center (NYGC), The Rockefeller University and other NYGC member institutions, and IBM (NYSE: IBM) bhave illustrated the potential of IBM Watson for Genomics to analyze complex genomic data from state-of-the-art DNA sequencing of whole genomes. The study compared multiple techniques – or assays – used to analyze genomic data from a glioblastoma patient’s tumor cells and normal healthy cells.

The proof of concept study used a beta version of Watson for Genomics technology to help interpret whole genome sequencing (WGS) data for one patient. In the study, Watson was able to provide a report of potential clinically actionable insights within 10 minutes, compared to 160 hours of human analysis and curation required to arrive at similar conclusions for this patient.

Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma

From Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma

Objective: To analyze a glioblastoma tumor specimen with 3 different platforms and compare potentially actionable calls from each.

Methods: Tumor DNA was analyzed by a commercial targeted panel. In addition, tumor-normal DNA was analyzed by whole-genome sequencing (WGS) and tumor RNA was analyzed by RNA sequencing (RNA-seq). The WGS and RNA-seq data were analyzed by a team of bioinformaticians and cancer oncologists, and separately by IBM Watson Genomic Analytics (WGA), an automated system for prioritizing somatic variants and identifying drugs.

Results: More variants were identified by WGS/RNA analysis than by targeted panels. WGA completed a comparable analysis in a fraction of the time required by the human analysts.

Conclusions: The development of an effective human-machine interface in the analysis of deep cancer genomic datasets may provide potentially clinically actionable calls for individual patients in a more timely and efficient manner than currently possible.

Would you start saving money for college tuition, or for printing the genome of your offspring?

From Stanford’s Final Exams Pose Question About the Ethics of Genetic Engineering | Futurism

When bioengineering students sit down to take their final exams for Stanford University, they are faced with a moral dilemma, as well as a series of grueling technical questions that are designed to sort the intellectual wheat from the less competent chaff: “If you and your future partner are planning to have kids, would you start saving money for college tuition, or for printing the genome of your offspring?”

The question is a follow up to “At what point will the cost of printing DNA to create a human equal the cost of teaching a student in Stanford?”

I’d love to see the breakdown by gender, ethnicity, etc. and how the answers evolve year over year.

The Slippery Slope Argument in the Ethical Debate on Genetic Engineering of Humans

From The Slippery Slope Argument in the Ethical Debate on Genetic Engineering of Humans | SpringerLink

This article applies tools from argumentation theory to slippery slope arguments used in current ethical debates on genetic engineering. Among the tools used are argumentation schemes, value-based argumentation, critical questions, and burden of proof. It is argued that so-called drivers such as social acceptance and rapid technological development are also important factors that need to be taken into account alongside the argumentation scheme. It is shown that the slippery slope argument is basically a reasonable (but defeasible) form of argument, but is often flawed when used in ethical debates because of failures to meet the requirements of its scheme.

Genetic Engineering and Human Mental Ecology: Interlocking Effects and Educational Considerations

From Genetic Engineering and Human Mental Ecology: Interlocking Effects and Educational Considerations | SpringerLink

This paper describes some likely semiotic consequences of genetic engineering on what Gregory Bateson has called “the mental ecology” (1979) of future humans, consequences that are less often raised in discussions surrounding the safety of GMOs (genetically modified organisms). The effects are as follows: an increased 1) habituation to the presence of GMOs in the environment, 2) normalization of empirically false assumptions grounding genetic reductionism, 3) acceptance that humans are capable and entitled to decide what constitutes an evolutionary improvement for a species, 4) perception that the main source of creativity and problem solving in the biosphere is anthropogenic. Though there are some tensions between them, these effects tend to produce self-validating webs of ideas, actions, and environments, which may reinforce destructive habits of thought. Humans are unlikely to safely develop genetic technologies without confronting these escalating processes directly. Intervening in this mental ecology presents distinct challenges for educators, as will be discussed.