iblog

Thomas King: An 18-year-old British man has had his failing eyesight improved by cutting edge gene therapy.

Steven Howard from Bolton, near Manchester, suffers from a rare form of blindness called Leber’s congenital amaurosis. The condition is the result of a faulty gene which prevents sufferers from manufacturing rhodopsin, a light-absorbing pigment which is a vital component of the human eye.

Lack of this pigment has left Howarth with extremely poor night-vision since birth but his vision was progressively worsening and would have left him totally blind by his mid-to-late twenties.

The treatment, pioneered by doctors at London’s Moorfields Eye Hospital, works by replacing the damaged gene. This rejuvenates the dying cells on the retina and restores vision as they recover.

A healthy copy of the gene is inserted into the cells by injecting a fluid containing a modified virus which carries the healthy gene. When the virus ‘infects’ the retinal cells and copies its own genetic material across, it also copies the healthy gene and repairs the cells’ nuclei.

The treatment has improved Howarth’s low-light vision 100-fold and has also improved his peripheral vision, allowing him to see out of the corner of his eye for the first time. Where once he could barely walk across a dimly lit room, Howarth now says he would ‘feel comfortable’ walking home at night.

The study’s leader, Professor Robin Ali said that the result was “a major boost for the whole field”. Professor Ali, who is the brother of Brick Lane author Monica Ali, admitted that he was surprised to see such a significant improvement but now felt that gene therapies for other vision-reducing conditions, such as macular degeneration, could soon be possible.

He said “I find it difficult to remember being as excited as I am today about our science and what it might achieve.”

The success is the second breakthrough by Moorfield’s Eye Hospital in just over a week. On the 21st of April, researchers at the hospital announced the trialling of a ‘bionic eye’ which could help sufferers of a degenerative eye disease, retinitis pigmentosa, to regain a basic level of vision.

The ‘eye’ is actually a camera mounted on a pair of glasses. The camera picks up images and transmits them wirelessly to a receiver which is connected to the patient’s retina. The receiver sends a sequence of electrical impulses which the retina passes onto the brain. Here they are decoded as patterns of light and darkness to give subjects a vague outline of their surroundings.

Researchers warned that it was ‘early days’ but said that they were hopeful for the trial’s success.

Rushda: A recent organ donation case has sparked much anger from across the country. The daughter of a woman who was in serious need of a kidney transplant suddenly died, but her organs were distributed to strangers against her wishes despite her mother being in need. The ruling was that preference couldn’t be given to the mother even though the daughter had always wished to help, even expressing interests to be a “living donor” but never completing the formalities.

Laura Ashworth, from Bradford, suddenly died from an asthma attack on 2nd April aged 21. Because she had agreed to be an organ donor whilst she was alive, the decision was made to user her organs for transplant after she died. However, even though Rachel Leake, the mother of Laura, was in desperate need of a kidney she was not allowed to take it because no preferential treatment could be given, and the kidneys went to three strangers on the transplant waiting list. Many people have felt outraged that the state could intervene in such a way when it is so intuitive that donors should be allowed to help their family first. Not only have Laura’s wishes been disrespected but she has left behind her young daughter who is now dependent on her suffering mother.

Mrs Leake is horrified by the decision and has said:

“I believe it should be overturned, I really do. It’s an absolutely ridiculous law. Laura’s helped three people through this, but Laura would have wanted to help me. To help her mum.”

The Human Tissue Authority (HTA) defended its decision to not allow Mrs Leake to take Laura’s kidneys. Adrian McNeil, who is chief executive of the HTA, said:

“The central principle of matching and allocating organs from the deceased is that they are allocated to the person on the UK Transplant waiting list who is most in need and who is the best match with the donor. In line with this central principle, a person cannot choose to whom their organ can be given when they die; nor can their family.”

Even though he says this, he admits that there can be special circumstances to consider, which is why in the future the laws may be revised. It is just unfortunate, however, that such a statement will not help Laura’s mother. What is especially terrible is that not only has this decision cost the mother and daughter but so many people have now lost faith in the donation system and have subsequently removed their name from the register. I cannot blame them: who wants to give something away voluntarily to know their wishes won’t even be respected? Everyone would help their family if they were given the chance, especially their own mother who gave them life in the first place.

Rushda: People have long been in two minds about whether having a cup every day is actually beneficial or not - certainly, having too much caffeine has always been agreed to be risky. Well, lately a number of new studies have shown that the effects of drinking coffee in moderate amounts can have a number of very strong benefits for the brain. Previously, it was shown that that coffee cuts the risk of Alzheimer’s disease, and now new studies have confirmed that coffee cuts down the damages of cholesterol and thereby reduces the risk of diseases such as dementia. Scientists call this “best evidence yet” for claiming that coffee is beneficial.

One of the experiments that was conducted was in rabbits in North Dakota that were fed a fat-rich diet. It was found that those rabbits that were given a caffeine supplement had a much better protected barrier between the brain and the main blood supply than the rabbits which were not. Similarly in humans, scientists say that there is a “blood brain barrier” which protects the brain from harmful chemicals carried in the blood. This barrier is said to become “leaky” if one consumes high levels of cholesterol, which contributes to the risk of mental diseases such as Alzheimer’s. Coffee strengthens this barrier, which means there is less potential for harmful chemicals to enter the brain.

As Dr Jonathan Geiger, who led the study explains:

“Caffeine appears to block several of the disruptive effects of cholesterol that make the blood-brain barrier leaky,” said Dr Jonathan Geiger, who led the study. High levels of cholesterol are a risk factor for Alzheimer’s disease, perhaps by compromising the protective nature of the blood brain barrier. Caffeine is a safe and readily available drug and its ability to stabilise the blood brain barrier means it could have an important part to play in therapies against neurological disorders.”

This is very promising news, especially for those who are currently researching into cures for Alzheimer’s disease. A spokesperson for the Alzheimer’s Disease Society says:

“This is the best evidence yet that caffeine equivalent to one cup of coffee a day can help protect the brain against cholesterol. In addition to its effect on the vascular system, elevated cholesterol levels also cause problems with the blood brain barrier. This barrier, which protects the brain from toxins and infections, is less efficient prior to brain damage caused by Alzheimer’s disease or strokes.”

Coffee-lovers will be pleased that their favourite drink will also be protecting their brains for years to come.

Rushda: Royal Mint has unveiled new designs for British coins which have not changed in appearance in over 40 years, since decimalisation April 1968. Described as one of the biggest events in British History, the new coins, which can be seen here combine modern designs with traditional elegance. They were announced as the result of a competition which ran since 2005 and received over 4000 entries.

The winning designer of the coins is 26-year-old Matthew Dent, a graphic designer who lives and works in London. What makes the designs particularly striking is that the royal coat of arms has been split amongst the six denominations, the crowning piece being the £1 which displays the entire heraldic shield. This is the first time the coins have contained elements of a singular design. The other side will retain the traditional image of the Queen’s head and the two pound coin has not changed.

Dent is understandably amazed that his own designs will be on every new British coin. He says:

“For designs of mine to appear on a medium as significant and prestigious as the United Kingdom’s coinage and to be produced and circulated in millions is a tremendous honour.”

The new designs mark a huge event in British history. As Andrew Stafford, chief executive of the Royal Mint explains:

“It is the only work of art that every member of the general public touches every day, that is important to the nation’s way of life,”

The coins will gradually begin to circulate in the summer, though old coins will remain legal tender. Personally, I really like the thoughtful new designs and though the old coins will be missed (especially the 50 pence coins with images of Britannia), I’m sure most people will like the fresh new look which was long overdue. I can’t wait to get my hands on some (though I suspect I’ll be reluctant to use them as anything but a jigsaw puzzle initially!).