Grenfell Tower 6m Anniversary. May Welcomed in Brussels. US Repeals Internet Neutrality. Hemophilia Gene Therapy

Grenfell Tower Friday 16th June

Six months since the Grenfell Tower Fire and a memorial service held in St Pauls. Many Families are still homeless and living in single rooms in hotels.

Reminded of the eerie atmosphere when I originally saw the tower and reported on it on Friday 16th June (https://brexitrumpdiary.blogspot.co.uk/2017/06/connecting-crowd-and-crowds-at-grenfell.html)

Prime Minister Theresa May received to applause at a dinner meeting at the EU in Brussels. A decision on whether the Brexit negotiations can proceed to the next stage is expected tomorrow.

Notable that the Irish PM stated that Ireland's very closest relations were with the EU 27 and then of course the UK. However, the important matter was to ensure that the deal agreed between the UK and EU last Friday is enshrined in law. This is the continued fallout from the perceived breach of trust caused by David Davis' statements that the deal was not binding.

Despite an overwhelming majority of Americans wanting the internet to retain its neutrality, the Federal Communications Commission voted 3:2 to repeal the internet neutrality bill instigated in the Obama era. There is a lot of opposition to the action, including from technology companies, and the issue may face hurdles in court. The big fear is that large internet companies can begin introducing differential services, limiting access, speed or costs to the internet and its sites.

The medical news of the day is the apparent success of a gene therapy trial targeting Hemophilia type B. Hemophilia prevents blood from clotting and sufferers are not only in danger from slight external cuts and grazes, internal bleeding at joints can be painful and potentially life threatening. Current treament involves regular injections of the missing blood factors.

The two main types of Hemophilia are Type A (affecting production of factor VIII) and Type B (affecting factor IX). Type A is the most abundant, affecting 1 in 5000 males. Type B was not recognised until 1952. Both are due to mutations on the X chromosome, and are therefore generally carried without symptoms by women (who have two X chromosomes, of which one is normally healthy), whilst appearing in men, who only have one X chromosome.

The gene therapy trial was conducted on ten individuals deficient in factor IX (type B). All showed an improved level of factor IX to an average up to 30%, from an original level of about 2%. Only one patient still had to take supplementary factor IX, but at a reduced frequency (Lindsey A. et al 2017 http://www.nejm.org/doi/full/10.1056/NEJMoa1708538). The report was followed within days of another trial, this time focusing on factor VIII (type A ). Here 13 individuals were treated and 10 were able to go without factor VIII treatment, so far up to 18 months since treatment (Savita Rangarajan et al 2017 http://www.nejm.org/doi/full/10.1056/NEJMoa1708483#t=articleBackground).

How does the gene therapy work?

Both groups used an "adeno-associated viral (AAV) vector" to carry the factor VIII or IX. The vector is a carrier for the treatment. It is derived from an virus (an Adenovirus) that does not appear to cause disease. It does however penetrate human cells and splices itself in the DNA.

The AAV vector containing the factor VIII gene or the factor IX gene was injected into a vein. It traveled to the liver, where it was presumably take up by liver cells and fused into their DNA. The factor VIII or IX gene was linked to a switch (called a promoter) that would turn on the gene in the liver. The liver cells successfully began making the healthy factor VIII or IX, depending on the trial.

I screened my photos taken during the Geminid meteor shower around 2am this morning. I'd captured three strong shooting stars and a couple of weaker ones, however, they did not match the experience of seeing the actual meteors by eye. The camera was no substitute for the human eye and brain in this case!