Friday 26th February 2016- The Telegraph: First drug to reverse Huntington’s disease begins human trials

‘A drug which appears to reverse Huntington’s disease is being trialled in humans after proving successful in monkeys and mice.

The new drug, called IONIS-HTTRx, silences the gene known to be responsible for the production of a protein which causes Huntington’s.

The disease is a hereditary condition which damages nerve cells in the brain and effects around 7,000 people in Britain. It causes uncontrolled movements, loss of intellectual abilities, emotional problems and eventually death.

Now scientists have shown that it is not only possible to halt the disease but to reverse the damage.

“It is very exciting to have the possibility of a treatment that could alter the course of this devastating disease,” said clinical study principal investigator Dr Blair Leavitt, of the University of British Columbia in Vancouver.

“Right now we only have treatments that work on the symptoms of the disease.”

Huntington’s is caused by a mutated HTT gene, and everyone who inherits the genetic defect will eventually develop the disease.

Researchers have been trying to develop a drug which acts like a dimmer switch, turning the gene down so that it can no longer produce the devastating protein which causes brain damage.’

‘When they tested IONIS-HTTRx on mice with the disease their motor function improved within a month and within two months their health was restored to normal. In monkeys the drug was found to decrease the HTT protein throughout the central nervous system by 50 per cent.

The drug is delivered into the cerebral spinal fluid via lumbar injection, as antisense drugs do not cross the blood brain barrier – a protective sheath that prevents toxins entering the brain.

The drug is now being trialled in humans in low doses to check that it is safe for larger trials into its efficacy to begin.

The research was presented at the American Academy of Neurology’s 68th Annual Meeting in Vancouver, Canada, April 15 to 21, 2016.’

See:

First drug to reverse Huntington’s disease begins human trials

Thursday 21st January 2016- BBC News: Sisters help launch cancer study aiming to end chemotherapy

‘The first patients have had their DNA analysed in a massive study that aims to help replace chemotherapy.

They include three sisters who developed breast tumours within 15 months of each other.

The 100,000 Genomes Project in England will look at their DNA, and that of thousands of other patients, to help the search for precision treatments and understand how tumours develop.

Cancer Research UK said the project was “very exciting”.

In November 2013, Mary Lloyd was diagnosed with breast cancer, as was her younger sister Kerry two months later. In February the following year their sister Sandra was diagnosed too.

Mary, 61 and from Northampton, told the BBC News website: “It was really unbelievable.

“I had just retired and made plans, then to find out Kerry also had breast cancer – she’s got two children still at school – it was just awful.

“Sandra had almost prepared herself [for her diagnosis] and she was devastated as well.

“But because we’re sisters together we’ve been able to support one another. That’s really important as the treatment is horrendous.”‘

‘The sisters are taking part in the 100,000 Genomes Project, run within the NHS, which is trying to understand the mutations that cause or increase the risk of cancer.

It will also determine the drugs that can target tumours. Herceptin works only in patients with specific mutations.

“It’s classed as the beginning of the end of chemotherapy,” said Dr Julian Barwell, a consultant in clinical genetics at the the University Hospitals of Leicester NHS Trust.

He told the BBC: “This is the first step for the NHS into genomic medicine. If successful it will give individual tumour profiles and identify which drugs are likely to benefit you. It’s hugely exciting.”‘

See:

Sisters help launch cancer study aiming to end chemotherapy

Friday 15th January 2016- The Independent: Down’s syndrome test which is ‘safer and highly accurate’ approved for pregnant women on NHS

‘A simple new blood test which identifies Down’s syndrome has been recommended for high-risk women on the NHS, reducing the need for examinations which complications.

The highly accurate, non-invasive prenatal test (NIPT) reduces the need for expectant mothers to undergo invasive amniocentesis, which carries a 1 per cent risk of miscarriage and a one in 1,000 risk of serious infection.

The method, which can be processed in five days, also detects Patau’s and Edwards’ syndromes, which all occur when cells carrying an extra chromosome.

While most people with Down’s syndrome have learning difficulties, many babies with Edward’s and Patau’s die before or shortly after they are born.

Currently, women who are at 10 to 14 weeks are offered a blood test and ultrasound to check the foetus for abnormalities.

Government advisers at the UK National Screening Committee have now recommended that women with at least a one in 150 chance of their baby having Down’s, Patau’s or Edwards’ syndromes take the new test.

The examination uses the mother’s blood, which contains the foetus’ DNA, to screen for diseases. Studies show it has a 99 per cent accuracy for identifying Down’s.

Ministers must now approve the recommendations before they can be rolled out.

A study involving 2,500 high and medium risk women at Great Ormond Street Hospital (GOSH) last year showed that the test was safe and 99 per cent accurate.

However, Dr Anne Mackie, director of screening at Public Health England, said that while evidence suggest that NIPT is more accurate than current tests, questions remain about its use in real-life.

“We don’t know how good the test is for other genetic conditions – Edwards’ and Patau’s syndromes – that are currently part of the programme, and the evidence review also found that up to 13 per cent of the NIPTs carried out didn’t give any result at all.”

The tests will be introduced out across England to enable experts to alter the screening programme if necessary.  ‘

Related Articles:

Down’s syndrome test which is ‘safer and highly accurate’ approved for pregnant women on NHS

Non-invasive test for Down’s syndrome recommended for high-risk women- The Guardian

Hundreds of babies could be saved after Down’s Syndrome blood test is approved for NHS- The Telegraph

Safer Down’s test backed for NHS use- BBC News

Monday 11th January 2016- The Guardian: First genome project diagnoses give hope to two four-year-olds

‘Doctors feared something was wrong the moment Georgia Walburn-Green was born… Now aged four, it is clear that Georgia is not developing properly. As a baby, she struggled to hold her head up, look around the room, and sit upright. She has a kidney condition, growths in her eyes, and a disorder that means she may never speak. On top of this, despite dozens of invasive tests and scans, doctors could not diagnose her condition.

That changed two weeks before Christmas when Georgia’s family received a call from Great Ormond Street Hospital in London. Doctors there had finally identified the problem: a rare genetic mutation on a single gene. The diagnosis has transformed the family’s life. Knowing that they did not pass on the disease, Amanda and her husband, Matt, are now trying for a second baby.

Georgia, and another four-year-old girl called Jessica, are the first children to be diagnosed with rare diseases through the UK’s 100,000 Genomes Project. Both received diagnoses last month, ending years of uncertainty for them and their families. The £300m project was launched by David Cameron in 2014 to improve diagnoses and treatments of rare genetic disorders and cancer.’

‘Researchers on the project compared DNA from the girls and their parents to find that each child had a fault in a single gene. Having identified the genetic defects, doctors can now test for them in other children who display the same developmental problems as Georgia or Jessica.

“We’ve got a long way to go before we really understand rare diseases and cancer, but we feel very hopeful that this is the beginning of something powerful and helpful,” said Maria Bitner-Glindzicz, a clinical geneticist at Great Ormond Street. While the diseases are individually rare, they are common as a group. Doctors have identified 7,000 rare genetic illnesses which affect one in 17 people in the UK.’

Related Articles:

First genome project diagnoses give hope to two four-year-olds

Genome project helps its first two young patients at Great Ormond Street Hospital- The Independent

Children suffering mystery illnesses finally diagnosed through gene screening- The Telegraph

Tuesday 24th November 2015- BBC News: Mutant mosquitoes ‘resist malaria’

‘US scientists say they have bred a genetically modified (GM) mosquito that can resist malaria infection.

If the lab technique works in the field, it could offer a new way of stopping the biting insects from spreading malaria to humans, they say.

The scientists put a new “resistance” gene into the mosquito’s own DNA, using a gene editing method called Crispr.

And when the GM mosquitoes mated – their offspring inherited the same resistance, PNAS journal reports.

In theory, if these mosquitoes bite people, they should not be able to pass on the parasite that causes malaria.

About 3.2bn people – almost half of the world’s population – are at risk of malaria.

Bed nets, insecticides and repellents can help stop the insects biting and drugs can be given to anyone who catches the infection, but the disease still kills around 580,000 people a year.’

‘Scientists have been searching for new ways to fight malaria.

The University of California team believe their GM mosquito could play a pivotal role – breeding resistant offspring to replace endemic, malaria-carrying mosquitoes.

They took a type of mosquito found in India – Anopheles stephensi – on which to experiment.

Dr Anthony James and his team showed that they could give the insect new DNA code to make it a poor host for the malaria parasite.

The DNA, which codes for antibodies that combat the parasite, was inherited by almost 100% of the mosquito offspring and across three generations.’

See:

Mutant mosquitoes ‘resist malaria’

Thursday 5th November 2015- BBC News: ‘Designer cells’ reverse one-year-old’s cancer

‘The first person in the world to receive a pioneering genetic therapy has had her cancer reversed, say Great Ormond Street doctors.

One-year-old Layla Richards, from London, had incurable aggressive leukaemia only five months ago.

Doctors used “designer immune cells” to fight the cancer and say her improvement was “almost a miracle”.

It is too soon to know if she has been cured, but her progress already marks a huge moment for the field.

Layla was three months old when she was diagnosed with the condition.

As often happens with very young babies, chemotherapy and a bone marrow transplant failed to cure her.’

‘Doctors had nothing left to offer and, the day before her first birthday, her family were advised to go through palliative care.

But Layla’s dad Ashleigh refused to give up. He told the BBC: “I didn’t want to go down that road, I’d rather that she tried something new and I took the gamble.

“And this is her today standing laughing and giggling, she was so weak before this treatment, it was horrible and I’m just thankful for this opportunity.”‘

‘Prof Waseem Qasim, from Great Ormond Street, added: “This is the first time human cells, engineered in this particular way, have been given back to a patient and that was a big step for us.

“The technology is moving very fast, the ability to target very specific regions of the genome have suddenly become much more efficient and we think that this technology will be the next phase of treatments.’

Related Articles:

‘Designer cells’ reverse one-year-old’s cancer

Baby girl is first in the world to be treated with ‘designer immune cells’- The Guardian

British baby given genetically-edited immune cells to beat cancer in world first- The Telegraph

Friday 18th September 2015- The Guardian: UK scientists seek permission to genetically modify human embryos

‘Scientists in Britain have applied for permission to genetically modify human embryos as part of a research project into the earliest stages of human development.

The work marks a controversial first for the UK and comes only months after Chinese researchers became the only team in the world to announce they had altered the DNA of human embryos.

Kathy Niakan, a stem cell scientist at the Francis Crick Institute in London, has asked the government’s fertility regulator for a licence to perform so-called genome editing on human embryos. The research could see the first genetically modified embryos in Britain created within months.

Donated by couples with a surplus after IVF treatment, the embryos would be used for basic research only. They cannot legally be studied for more than two weeks or implanted into women to achieve a pregnancy.

Though the modified embryos will never become children, the move will concern some who have called for a global moratorium on the genetic manipulation of embryos, even for research purposes. They fear a public backlash could derail less controversial uses of genome editing, which could lead to radical new treatments for disease.

Niakan wants to use the procedure to find genes at play in the first few days of human fertilisation, when an embryo develops a coating of cells that later form the placenta. The basic research could help scientists understand why some women lose their babies before term.’

Related Articles:

UK scientists seek permission to genetically modify human embryos

Scientists seek permission to genetically modify embryos- BBC News

Friday 21st August 2015- The Guardian: Study of Holocaust survivors finds trauma passed on to children’s genes

‘Genetic changes stemming from the trauma suffered by Holocaust survivors are capable of being passed on to their children, the clearest sign yet that one person’s life experience can affect subsequent generations.

The conclusion from a research team at New York’s Mount Sinai hospital led by Rachel Yehuda stems from the genetic study of 32 Jewish men and women who had either been interned in a Nazi concentration camp, witnessed or experienced torture or who had had to hide during the second world war.

They also analysed the genes of their children, who are known to have increased likelihood of stress disorders, and compared the results with Jewish families who were living outside of Europe during the war. “The gene changes in the children could only be attributed to Holocaust exposure in the parents,” said Yehuda.

Her team’s work is the clearest example in humans of the transmission of trauma to a child via what is called “epigenetic inheritance” – the idea that environmental influences such as smoking, diet and stress can affect the genes of your children and possibly even grandchildren.

The idea is controversial, as scientific convention states that genes contained in DNA are the only way to transmit biological information between generations. However, our genes are modified by the environment all the time, through chemical tags that attach themselves to our DNA, switching genes on and off. Recent studies suggest that some of these tags might somehow be passed through generations, meaning our environment could have and impact on our children’s health.’

See:

Study of Holocaust survivors finds trauma passed on to children’s genes

Friday 10th July 2015- The Guardian: Eliminating intersex babies is not a legitimate use of genetic embryo testing

‘“Designer babies” seems like a concept from a dystopian future, but they’re here now: would-be parents who utilize in-vitro fertilization to conceive often also have the option of genetically testing embryos and then picking which one to implant.

Scientists can test for hundreds of things, from fatal genetic traits like Tay-Sachs and Huntington disease to non-fatal but culturally devalued embodiments like Down syndrome, deafness, blindness and intersex conditions.’

‘Using PGD to select against intersex people is an especially pernicious use of the technology because it is done to reinforce the inadequate sex binary and even to police non-heterosexual, queer attractions or acts.’

See:

Eliminating intersex babies is not a legitimate use of genetic embryo testing

Wednesday 8th July 2015- The Independent: Gene therapy offers hope to congentially deaf children, say scientists

‘Correcting the genetic defects that cause congenital deafness with gene therapy could be possible within five to ten years according to scientists who claim to have made a breakthrough with the technique.

Researchers in the US have successfully corrected inherited deafness in a strain of laboratory mice that is a realistic animal model of the mutations that causes congenital deafness in between 4 and 8 per cent of deaf children.’

See:

Gene therapy offers hope to congentially deaf children, say scientists

Deafness could be treated by virus, say scientists- BBC News