Three geneticists have been awarded $3 million prizes for their contributions to the field of life sciences.
The Breakthrough Prize, established in 2012, was set up by a group of Silicone Valley entrepreneurs including Mark Zuckerburg of Facebook, Anne Wojcicki of 23andme and Jack Ma of Alibaba.
The international awards, also known as the 'Oscars of Science', were created to recognise ground-breaking discoveries in the field of mathematics, fundamental physics and life sciences.
Zuckerburg said: 'By challenging conventional thinking and expanding knowledge over the long term, scientists can solve the biggest problems of our time. The Breakthrough Prize honours achievements in science and math so we can encourage more pioneering research and celebrate scientists as the heroes they truly are.'
Professor John Hardy of UCL, has worked in the field of Alzheimer's disease research since the 1980s. Using human volunteers with a family history of the neurological disease, Professor Hardy and his team discovered a causative mutation in the gene encoding amyloid precursor protein (APP).
Patients with Alzheimer's and other neurological diseases were found to overproduce and accumulate APP, creating plaques of the protein in the brain. This could interfere with cell–cell signalling, causing the learning and memory problems associated with neurological diseases. This discovery has allowed scientists to create a mouse models with the same APP mutation as humans, study its effects and develop potential therapies.
Dr Helen Hobbs of UT Southwestern Medical Center in Texas, was recognised for her research in cholesterol. In 1999 Dr Hobbs co-launched the Dallas Heart Study, a population study of Dallas County investigating levels of circulating protein and lipids in the blood. This data was informed with health interviews, imaging studies and genomic sequencing.
Using the genomic information and collected health information, Dr Hobbs identified rare variants in the patient genomes. Certain mutations in a newly identified gene PCSK9 were shown to promote high levels of circulating low-density lipoprotein (LDL) which can lead to heart disease.
The scientists showed that different mutations in this gene reduced LDL levels and that patients with such mutations had much lower incidence of heart disease. Further work showed this gene could be blocked from functioning, leading to the development of new drugs targeting this gene, the first two of which have recently been approved by the US Food and Drug Administration.
'This is a wonderful honour,' said Dr Hobbs. 'I am grateful for the opportunity the Breakthrough Prize offers to influence a new generation of scientists.'
Dr Svante Pääbo, director of the Max Planck Institute of Evolutionary Anthropology was awarded a Breakthrough Prize for his work sequencing the Neanderthal genome. Dr Pääbo first found fragments of the Neanderthal genome within fossils in 1997 and has worked to reconstruct the entire genome since then (see BioNews 557).
This research has shown the patterns of Neanderthal and human cross-breeding prior to Neanderthal extinction 40,000 years ago. An exact DNA lineage of humans was unearthed by Dr Pääbo's group and has allowed investigation between Neanderthals and humans to identify the genes which make our species human.
Six life scientists were honoured in total, alongside five groups of fundamental physicists whose collaborative work has furthered research into neutrino oscillations. Two of the honoured researchers also won the Nobel Prize in Physics for their neutrino research earlier this year.