How David Cameron's son's tragedy spurred him to help save lives with groundbreaking project
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Sarah Knapton
Former prime minister leads groundbreaking project to find life-changing therapies for rare genetic diseases, a task made easier by Brexit
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The Telegraph
The devastation of losing a child is every parent’s worst fear.

For David Cameron, the former prime minister, the death of his son Ivan to the rare genetic condition Ohtahara syndrome has made him determined to help families avoid similar heartbreak.

He is leading a groundbreaking project with Oxford University to find 40 new life-changing therapies for rare diseases over the next 10 years, in a push that could finally see a treatment for the condition that killed Ivan.

He told The Telegraph: “With Ivan, he would sometimes have 20-30 seizures a day and we were in accident and emergency the whole time trying to find the right combination of drugs that would stop the seizures.

“Sometimes you’d be there for weeks at a time, and all for a condition that you could describe the symptoms of, but you couldn’t describe the cause. It wakes you up to this whole issue of rare diseases.

“If you could lessen the heartbreak that so many parents feel when they have an experience like this, you’d be doing an amazing thing, because it’s everything from the sadness of having a child who’s in pain, to the loneliness of knowing there may never be a cure or a treatment.”

One in 17 people will be affected by a rare disease at some point in their lives, amounting to 3.5 million people in Britain and 400 million people worldwide, according to the charity Genetic Alliance UK. Half are children.

Although there are about 7,000 rare diseases currently known, just five per cent have an approved treatment.

Many rare diseases are de novo mutations (not inherited).

Most people are born with about 70 such mutations, which usually cause no problems, but can occasionally impact important genes, leading to devastating neurological or developmental issues.

Ivan Cameron, who died in 2009 aged six, suffered from Ohtahara syndrome, a rare form of epilepsy characterised by seizures and developmental delays which left him severely disabled and unable to speak.

Mr Cameron has previously said that learning about his son’s illness hit him “like a freight train” and, because it was such a rare condition, at the time doctors did not know whether he and his wife Samantha would pass it on to their subsequent children.

He added: “Twenty-two years ago, when I had genetic counselling after Ivan was born, the doctor said it could be an inherited thing, in which case it could be a one-in-four chance (it would be passed on) or it might not be inherited.

“Because we were thinking of having other children he said, ‘Well, I’ll give you a blended probability of one in 20.’ Luckily, I took a gamble and I’ve got three healthy and happy children, but we just didn’t know. So we have come along in leaps and bounds.”

It is now thought that Ohtahara syndrome comes from a de novo mutation, but when Ivan was first diagnosed, genetic understanding was still limited.

It was one of the reasons Mr Cameron set up Genomics England and personally championed the 100,000 Genomes Project which has now expanded to sequence five million adults across Britain.

Mr Cameron is hoping that the £200 million Rare Disease Therapeutics Accelerator will continue the work he started as prime minister, in a project that could fundamentally change how treatments are discovered and licensed in Britain.

The project is a joint collaboration with Harrington Discovery Institute at University Hospitals in Cleveland, Ohio, which has already seen 177 medicines funded, 36 companies launched, and put 19 medicines into the clinic since it launched in 2012.

The team will be focusing on rare cancers, rare genetic conditions and devastating eye conditions that can impact the brain.

Rare diseases have been historically ignored by pharmaceutical companies because they only impact a relatively small number of people meaning firms would be unlikely to recoup the costs of trials.

Trials themselves are also difficult when there are only a handful of people suffering from a condition.

But the Oxford team believes there is a solution. Many rare diseases are caused by genetic mutations which could be fixed with therapies that repair genes.

Regulators would need only to approve the gene therapy itself, and then it could be used for a wide range of conditions without the need for extensive trials.

Sir John Bell, Regius Professor of Medicine at Oxford University, who led Oxford’s Covid vaccine team, a member of the accelerator steering committee said: “That is a game changer because it means even if you only have one person with a rare disease, you could look at their genetic variation and you can treat that specifically.

“You could edit out the defective bit of the gene and replace it with a normal bit of the gene. Or you could use short bits of DNA sequence to cover the problem.”

Spontaneous mutations

Data from the 100,000 Genomes Project is increasingly allowing scientists to see which gene mutations are causing very rare diseases, not inherited but which occur through spontaneous mutations in the genetic code, and the genetic editing tools to make changes are becoming available.

Brexit is also allowing Britain to break free of restrictive European regulations, with the Medicines and Healthcare products Regulatory Agency (MHRA) now able to act with more independence and agility.

“One of the reasons why our friends in Cleveland decided that they would want to collaborate with us is that we do have a regulator who can move quickly and actually allow us to do this,” added Sir John.

“Now that we are operating outside the umbrella of the European Union, it gives you flexibility to do stuff, which other regulators wouldn’t do.You can be much more agile.

“Obviously, you want these therapies to be safe and that can be difficult if you’ve only got two people with a disease.

“So you have to have broad rules about the type of tools that are likely to be safe, then as children and their parents rock up with their particular problems you can just use that platform to develop the therapy.

“Most parents are desperate and there’s very little downside to having a crack at something that could actually produce a significant improvement in their condition. And most parents will say just do whatever you need to do. Let’s have a go.”

Working quickly and without the huge costs of drug trials could also bring huge benefits to the NHS, which is already struggling to fund basic care.

“It should also in the end, reduce pressure on the NHS, because the amount of care that’s required for these kids is really high and if you can relieve that burden, so that they can function something close to a normal level, it may actually save a significant amount of funding,” added Sir John.

Mr Cameron added: “So much of the NHS is picking up the chaotic pieces of children who are desperately ill with parents trying to navigate their way through.

“When you have a child like Ivan you realise just how much we don’t know and you realise how much more research is needed, how much more investment, how much more collaboration.

“We will develop molecules and compounds and treatments and all the rest of it, and as they get close to the market, then it’s possible to get venture investors in to try to turn these into great British companies.”