Genetic medicine

A new technique to help cure mitochondrial diseases should be permitted by the law

In September Britain’s Human Fertilisation and Embryology Authority launched a public consultation on what sounds like a crackpot idea: to create children with three genetic parents. Yet this could be a way to eliminate a set of rare but nasty diseases caused by problems with pieces of cellular machinery called mitochondria. According to research published this week (see article), the basic technique of substituting problem-free mitochondria has now been tested in a laboratory and the researchers seem confident that, given the green light, they could bring a healthy child into the world.

Most of a child’s genes would come from the couple it would learn to call mum and dad. A tiny fraction of the DNA, however, would come from a female donor who would provide part of the egg from which the child grew. At present the law in Britain, like that in most other places, prohibits any genetic modification of embryos. It should be changed.

An in-gene-ious idea

Mitochondria turn the energy in sugar into a form a cell can use, so if they go wrong the consequences are dire. The brain, the nerves and the muscles, all huge consumers of energy, are the organs that suffer most. Mitochondria are also special, because they contain their own genes, completely separate from those in the cell nucleus, which are thus transmitted from mother to child in the egg.

Some mitochondrial disease is caused by mutations in these genes and is thus also inherited solely from the mother. Such diseases affect one person in 5,000 during his or her lifetime. But the separateness of mitochondrial genes means that by moving the nucleus from an afflicted egg into a healthy one, the mutated, disease-causing genes can be left behind. In effect, the nucleus would receive a mitochondrial transplant.

This incorporation of the DNA of two women might be seen by the nervous as a step down the slippery slope towards the genetic engineering of people. But that is unlikely.

The principal worry about genetic engineering is that it will lead to “designer babies” with customised DNA. But mitochondrial transplants involve no tinkering with the DNA itself. Though on a microscopic scale, the process is quite like a heart, liver or kidney transplant, with the caveat that the transplant will be passed on to the recipient’s children, if she is female. Any organ transplant introduces new genes into the body. Mitochondrial genes are ubiquitous, it is true, but this difference is one of degree, not kind.

Another reason not to worry is that the mitochondria carry only 37 genes, compared with about 20,000 in the cell nucleus, and these genes are exclusively concerned with energy metabolism. Pushy parents will not be picking mitochondrial donors on the basis of looks, personality or intelligence.

Non-biological objections are sometimes raised as well. Some worry, for instance, that a person with three genetic parents might suffer an identity crisis. But that seems less likely than in the case of people conceived by in vitro fertilisation using sperm donated by strangers who have contributed half of their offspring’s genes, not a paltry three dozen. And for that reason mitochondrial donors are even less likely than sperm donors to want to be involved with bringing up children in whom they have but a fractional genetic interest.

But is the process safe? Doing the experiment is the only way of finding out. It should be preceded by a lot of tests in Petri dishes and laboratory animals. But in the end, you just have to try it and see.

First published as a Leader in The Economist. Also available in audio hereThis editorial also had an accompanying article with it.

Free image from here.

Crowdfunding science: Many a mickle makes a muckle

Necessity, so the proverb has it, is the mother of invention. And science is nothing if not inventive. So, as conventional sources of money get harder to tap (the success rate enjoyed by those applying for research grants from the National Institutes of Health, America’s biggest science-funding agency, has fallen from 30% in 2003 to 18% in 2011), some of science’s more creative minds are turning elsewhere.

Philanthropic sponsorship of science, particularly in the form of expensive pieces of kit such as large telescopes, or sponsorship for expeditions to far-off places, has been around for centuries. But the internet now permits what might be thought of as microphilanthropy. Through a technique called crowdfunding, in which members of the public donate small sums to projects they like the look of (sometimes in the knowledge that the donation will be taken up only if sufficient other pledges are made to surpass a stated target), the possibility of scientific philanthropy has been extended to those of more slender means.

On October 4th, for example, Ethan Perlstein, a pharmacologist at Princeton University, launched a bid on a site called RocketHub to collect $25,000 to study the effect of drugs such as methamphetamine on the brain. He has until November 18th to raise the money.

Kristina Killgrove, an anthropologist at the University of West Florida, has already raised over $12,000 on RocketHub to examine the DNA of Roman skeletons. And on another crowdfunding site, Petridish, the California Academy of Sciences (CAS) offered to name any new species of ant discovered during a conservation project in Madagascar after those who donate more than $5,000 to the enterprise.

Although the crowdfunding of science is not raising the sorts of sums sometimes attracted by those with ideas for things like video games, it has already spawned a couple of specialised platforms of its own. Petridish is one. Another is called Microryza. And academic institutions are starting to follow the lead taken by the CAS. The University of California, San Francisco, has made a deal with a site called Indiegogo that will allow the university’s charitable status to make money donated via Indiegogo tax deductible. It will launch the first such project later this month.

Donors can expect no revenue if a crowdfunded science project is successful, of course. But they can expect to be kept up to date with progress. Dr Perlstein has promised to upload all data from his experiments onto a website, for his sponsors to look at. And even those who are not immortalised in the myrmicine literature, as the CAS proposed, may still get a warm glow from the feeling that they are making a contribution to the advancement of knowledge in a way which was previously open only to philanthropists with rather fatter wallets.

First published in The Economist. Also available in audio here.

Image credit: VentureBeat

Geek philanthropy

An innovative charity rallies geeks for a good cause

Businesses avidly mine data to improve their efficiency. Non-profit groups have plenty of information, too. But they can rarely afford to hire number-crunchers. Now a bunch of philanthropic geeks at DataKind, a New York-based charity, are helping other do-gooders work more productively and quantify their achievements for donors, who like to see that their money is well spent.

A typical DataKind two-day “hackathon” last month in London attracted 50 people who worked in three teams. One pored over the records of Place2Be, which offers counselling to troubled schoolchildren. Crunching the data showed that boys tend to respond better than girls, though girls who lived with only their fathers showed the biggest improvements of all. The charity did not know that.

The expertise is far beyond what is available to a typical charity. The small-talk among the volunteers was of dizzyingly complex statistical and artificial-intelligence techniques. Volunteers included an analyst at Teradata, a data-analytics firm. Around 20 employees attended from Aimia, a firm that mines data from consumer-loyalty programs.

In a previous hackathon in San Francisco, DataKind volunteers analysed the data from Mobilising Health, a non-profit group that connects rural patients in India with doctors in cities that are usually many hours away. Volunteers record symptoms and relay them by cellphones. The doctors then may prescribe drugs or recommend a hospital visit. The charity wanted to use the many months’ worth of accumulated text messages to evaluate the medics’ performance. Thanks to DataKind the charity was able to rejig the system to take more account of urgency and to direct requests to the most responsive doctors.

Thomas Levine, a data scientist at ScraperWiki, a provider of data-processing services, says he has attended DataKind events out of altruism but also for education. Would anyone care to measure that benefit?

First published in The Economist. Article written with Kenn Cukier. Also available in audio here.

Image from here.