Nature Survey on Personal Genomics

A few months ago, Nature opened a survey asking their readers about their attitudes on personal genomics and if they had been involved with personal genomic testing. Of the 1,588 people who took the survey, 18% have had some sort of genome analysis, and 54% of the respondents said that even though they haven't had genome analysis, they would do so if given the opportunity. 50% of those who had genome analysis used the services of 23andMe. Interestingly, intellectual curiosity was one of the highest motivators for genome sequencing, along with medical and general health concerns. More survey results appear on their website.

Britain to launch personalized medicine project

In the United Kingdom, the Cancer Research UK has begun a pilot program for mass genetic screenings of cancer tumors. They plan to take the excess component of biopsies and make a library of genes and mutations in the tumors in the hopes of gaining and understanding of which treatments will be effective on what cancer types. The benefit of a centralized system is that it allows for many researchers to have access to samples but also maintains standards of patient privacy. There also exists the hope that this will provide a model for bringing further personalized medicine into the British healthcare system.

Ethical Dilemmas of Genetic Research

At the 4th annual Personal Genomes conference, the ethical dilemmas surrounding genetic information disclosure to subjects involved in genome research was debated. Currently, federal law prohibits research facilities to reveal genetic information to subject unless a certified clinical lab has confirmed the results.

Very much relevant to next week's discussion on personal genomics!

Misfolded human tRNA isodecoder binds and neutralizes a 3′ UTR-embedded Alu element

The authors of this article demonstrate how two kinds of RNA, tRNA and Alu RNA, interact. tRNA binds to Alu RNA, causing a rearrangement of 3' UTR. Because of the large number of Alu elements and diversity of tRNAs in humans, they propose that this is a posttranscriptional regulation mechanism that might be unique to primates.

"Outbreak Detectives Embrace the Genome Era"

In Science this week: A team of scientists met in Brussels to discuss the creation of a global database where the genomes of disease-causing mircroorganisms could be shared as soon as they surface. In this way, it is hoped, the centre of disease outbreak can be pinpointed, antiobiotic effectiveness can be determined, and the evolution of microbes monitored.

Shows what the public fear of epidemics (seen 'Contagion' yet?) plus 'literally..more money than God' can achieve.

HGP is 10: the gene therapy challenge

This article addresses the implications of a completed Human Genome Project for gene therapy. It uses the case of cystic fibrosis, the "most common life-threatening single-gene disorder," to illustrate some hurdles to effective gene therapy. The benefits of using a human promoter sequence (rather than that of a virus) in the therapeutic plasmid are discussed, as well as how details down to the plasmid's exact DNA sequence can greatly affect the efficacy of the therapy. Dr. Deborah Gill of the UK Cystic Fibrosis Gene Therapy Consortium says that the HGP has "provided all the tools to make things really easy" and has "revolutionized gene therapy on a support basis." If greater efficiency in gene transfer and a longer response are priorities, how can the information of the HGP be exploited to indeed "revolutionize gene therapy"?

In quest for new therapies, clinician-scientist team unlocks hidden information in human genome

The article talks about how a science researcher and a physician team up in order to study genetic mutations in the human genome to see if these mutations caused diseases. The two, analyzed how the "lock and key" mutation takes place: "the 'lock' – a segment of DNA known as the CArG box – and the 'key' – a protein known as SRF – come together or bind, they unlock the ability of a cell to turn on a gene." The results of their research left unclear which disease the mutations affected although the two were able to link certain mutations to other health issues such as type 2 diabetes. The goal is to find out the issues and solve them at the molecular level so that people with not have to have certain life-threatening diseases.