Meet the detective Kiwi DNA to help children around the world

Meet the detective Kiwi DNA to help children around the world.

Professor Stephen Robertson, a world-renowned pediatric geneticist, helped solve obscure diseases while restoring hope to countless children around the world

. we will probably never hear – let alone be able to say – such as macrophagic myofasciitis, faciooculoacousticorenal syndrome and sympathetic reflex dystrophy.

These diseases are among about 7,000 rare genetic diseases that affect the lives of about seven percent of our population

A diagnosis with someone could be a frightening prospect for families, given the lack of knowledge about them, not to mention a lack of therapy or healing.

Roberston's breakthrough dates back to 2002, when he discovered rare disorder that afflicted a Whānau Māori of the Great North that he had encountered while working at Starship Children's Hospital

Robertson, now based at the University of Otago, was moved by their tragic story, which involved four of the women who lost seven baby sons to each other.

Babies were deformed at birth and died soon after.

After years of hard work, he finally identified a gene responsible for infant death, allowing diagnosis and potential genetic testing to address some of the whānau's concerns in the future.

But not only did he find a name and a diagnostic gene test for the disorder, but his research helped to understand human development and helped to understand many diseases well beyond this one condition . The offending gene has turned out to be involved in a series of congenital syndromes – surprising many geneticists internationally.

These are the moments of eureka and the ability to help diagnose the troubles that interested him.

helps people understand and live with disability as best as they can, and partly by giving information about what causes it. "

His latest discovery revealed the root of another disease called recessive spondylocarpotic synostosis syndrome, which led to the fusion of bones in the spine and limbs.

After samples of 39; DNA of 16 children were shipped from all over the globe to Robertson's Dunedin lab, he and his colleagues started to Advanced Sequencing Technologies enabled them to decode each of the six billion letters that make up our genetic makeup , or genome.

"By examining them all we often find a kind of spelling error that explains the situation," he said.

But in this case, the search was not simple.

"We found half of the answer, and we knew half of the answer because the condition's characteristics meant that we had to find two genetic variations – or two misspelling – in all people with the disease, "he says.

" It turned out we could only find One – then we knew we had to look for each other. "

They later discovered why the other variation was elusive: it was hidden among the" non-coding "DNA "Which is not involved in the programming of our proteins, but which still constitutes the essential of our genome.

" Fortunately, it was in a part of the genome that we knew the function of

Robertson was finally able to confirm, for the first time time, that there was really more than one gene involved – which could help not only to better diagnose the disease, but perhaps

In another study published in Robertson's team participated in a global collaboration using new genome sequencing technologies that found a new gene for a rare neurological disorder characterized by specific structural malformations in the brain

. The researchers sequenced sepa 65 evaluate families with this condition and then pooled their data and findings with a larger international team to make the new discovery after analyzing more than 200 families with the disease.

It involved clinical and molecular geneticists from all over New Zealand, Australia, Europe and the United States.

He said that the power of this study lies in the ability to work closely with international colleagues and lend expertise to the combined effort

" All of these activities show that so-called genomic medicine has arrived and can lead to more accurate, faster and more effective diagnoses for children, in particular, "he said.

" Our work shows that not only can we do it here but do it very well and even find the causes of new conditions. "

Cure Kids' director of research and innovation, Tim Edmonds, describes Robertson as a" rare talent … a geneticist gifted clinic and a scientist world-renowned "

fifteen years ago, the charity funded its research and, over time, it used the support of its donors to create a specialized laboratory now at the same time. Vanguard of the study of genetic determinants of an increasing number of rare diseases in children.

Ephen and his team are able to provide answers to families in New Zealand and around the world, while no one else can do it, "said Mr. Edmonds

. Lead the future by reflecting on how New Zealand can make the best use of rapid advances in genomic technologies to improve outcomes for our children. "