via biotech weblog
Preimplantation genetic diagnosis (PGD) has allowed couples to ensure the health of their child. But a screening technique known as karyomapping is going to improve prenatal diagnosis by replacing traditional PGD techniques. Karyomapping will allow doctors to detect both chromosomal abnormalities and single gene defects with a single test, making it a near-universal embryo screening. The technique should go into regular use by the end of the year.
The researchers based in the USA and the UK have been able to prove that the technique, known as genome-wide karyomapping, is capable of not only detecting diseases caused by a specific gene mutation, in this case cystic fibrosis, but that it was also capable of detecting aneuploidy (an abnormal number of any of the 23 pairs of chromosome) at the same time. This is the first time they have been able to demonstrate that the test can work in cells taken from embryos that have already been diagnosed with the cystic fibrosis gene mutation using conventional preimplantation genetic diagnosis (PGD).
In 2001, the Human Genome Project published a working draft of the human genome sequence, thus providing unprecedented advances in our knowledge of how a human works. The PGP makes sequencing personal. Just like the personal computer brought information technology to individuals, the PGP brings DNA sequencing to individuals.
So a while back I registered to the Personal Genome Project after they initally decoded the genome of their first ten participants and called for 10,000 volunteers to sign up for the potential to share their genome sequence and other personal information with the scientific community and the general public. (View example public profile pages here) To be considered, volunteers must pass an entrance exam to ensure a clear understanding of what it is they are getting themselves into and have an understanding of genomes and DNA and the bigger ethical picture of the Personal Genome Project.
I am currently working my way through the PGP study guide provided by the Alan and Priscilla Oppenheimer Foundation and hoping to fill in the gaps about the DNA and genome sequencing basics as well as use this as an insight into the PGP’s ethical considerations and risk legislation of sharing personal details to the public. I am not too sure if I really am aware of the implications and would say that this process is informing my ethical and moral position on predicitve gene testing and the PGP.
Question: Why do I have to take an exam to participate in the PGP?
Answer: The PGP takes informed consent very seriously and believes that an exam is the best way to ensure that you have the knowledge necessary to understand the benefits and risks associated with participating in the project.
For those interested in contributing their genetic material to the PGP check out their participation page
Could memories be stored by making modifications to your DNA? link
To remember a particular event, a specific sequence of neurons must fire at just the right time. For this to happen, neurons must be connected in a certain way by chemical junctions called synapses. But how they last over decades, given that proteins in the brain, including those that form synapses, are destroyed and replaced constantly, is a mystery. Now Courtney Miller and David Sweatt of the University of Alabama in Birmingham say that long-term memories may be preserved by a process called DNA methylation – the addition of chemical caps called methyl groups onto our DNA. With various experiments on mice using shock treatments, Miller and Sweatt “_think we’re seeing short-term memories forming in the hippocampus and slowly turning into long-term memories in the cortex,” says Miller, who presented the results last week at the Society for Neuroscience meeting in Washington DC.
Can experiences be passed on to offspring? link
What was your mother up to before you were even a twinkle in her eye? You might not think it matters, but it seems that in mice at least, mothers that receive mental training before they become pregnant can pass on its cognitive benefits to their young. Previous studies in both people and animals have shown that a mother’s experiences while pregnant can affect her offspring’s gene expression and health, even years later. However, it was not known if experiences prior to pregnancy had an effect. Larry Feig at Tufts University School of Medicine in Boston and his colleagues bred “knockout” mice that lacked a gene called Ras-GRF-2, causing them to have a memory defect. Normally, if mice in a cage receive a shock to their feet, they freeze in fear if they are then placed back into the same cage. In contrast, Ras-GRF2 knockout mice did not associate the cage with fear.
The current news topics relating to PGD and the baby born without the breast cancer gene reflects some of the work I generated during my RCA design interactions degree 2005-2007.
In particular the P-Evo Clinic:
The Personal Evolution Clinic was a scenario generated during the FORESIGHT internship I was involved in during 2006. The P-Evo Clinic is the ultimate preventative measure against our obesity epidemic. P-EVO is a development of the Family Planning Association. It offers services to would-be parents, through DNA and genomic screening, to predict genetic variants in the not-yet-conceived child. Parents can prepare for possible special requirements their unborn child may need in an obesogenic environment. The experience of a visit to the P-EVO clinic is a rare blend of religious vision, health spa and theatrical spectacle.
and The Gene Ceremony
The Gene Ceremony from the FATE INSTITUTE is a ritualistic experience that focuses on the implications of predictive gene testing on our future health susceptibility. A variety of foods act as DNA swabs to determine the likelihood of developing certain diseases or behavioural disorders. The ceremonial process ensures the experience of extracting the individuals genetic material is in line with the severity of the diagnostic information it reveals. The DNA material extracted from the jelly bone will be used by the FATE INSTITUTE to test each participant for their susceptibility to contracting Alzheimers or breast cancer in the future. The diagnosis is one part of a custom made course of future therapy provided at the holisitic institute of the Futures Association for Therapy and Entertainment.
PGD news links
The first baby in the UK tested before conception for a genetic form of breast cancer has been born. Doctors at University College London said the girl and her mother were doing well following the birth this week.The embryo was screened for the altered BRCA1 gene, which would have meant the girl had a 80% chance of developing breast cancer. link
Genetic tests that can detect a raised risk of breast, ovarian and prostate cancer are being offered for the first time to people without family histories of the diseases, The Times has learnt. The programme, run by University College London (UCL), paves the way for a new approach to preventive medicine involving widespread screening. It will also prompt greater demand for screening of embryos by parents who carry a defective gene and want to avoid passing it to their children. News of the programme came as Paul Serhal, medical director at University College Hospital’s Assisted Conception Unit, announced the birth of one of the world’s first babies selected to be free of a genetic risk of breast cancer. link
The birth of the first British baby genetically screened before conception to be free of a breast cancer gene was hailed yesterday as a breakthrough by doctors but raised fresh questions about the ethics of creating so-called designer babies. The baby girl grew from an embryo screened to ensure that it did not contain the faulty BRCA1 gene, which would have meant she had a 50%-85% of developing breast cancer. link
http://www.quantifiedself.com/ is a blog on self-tracking/personal data/life-logging projects that the participants are ‘socially prototyping’. Run by Kevin Kelly who also contributes to the Long Now Foudnation blog, it is an interesting illlustration of the increase in self-knowledge opportunities that digital and bio tech (eg Predictive Gene Testing)tools have offered as they have entered the mass market world. Its Show and Tell Meetups are based in San Francisco but perhaps this will migrate to the UK…watch this space.