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Undiagnosed Diseases Program discovers new rare disorder
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AN 18-month wait for a diagnosis might seem extreme, but not when the medical disorder in question was formerly unknown. In 2008, the US National
Jean-Paul Ferrero/auscape
New disease found
60 Seconds
“The Undiagnosed Diseases Program helps people with mysterious conditions that elude diagnosis”
Finding a vein
“Quote to go in here over four lines range left like this Quote to go in her like this xxxxx”
andy sacks/getty
Institutes of Health established the Undiagnosed Diseases Program (UDP) to help people with mysterious conditions. This week it announced its first big discovery: the genetic and molecular basis of a previously After the flood unexplained condition that MANGROVES may be the unlikely causes painful calcification winners from Australia’s recent of the arteries. Currently, only nine individuals floods, benefitting from the nutrient-rich sediment that are known to have the disorder, dubbed “arterial calcification due was washed into their forests. So says Catherine Lovelock to CD73 deficiency”. Researchers of the University of Queensland analysed the DNA of five affected in St Lucia, Australia, whose team siblings and found that they all was recording how mangroves had mutations of the NT5E gene, which codes for the CD73 enzyme in Exmouth Gulf, Western Australia, respond to artificial that produces adenosine – a phosphorus and nitrogen molecule that helps prevent fertilisation when cyclone arteries from calcifying (The New England Journal of Medicine, vol 364, p 432). The findings offer “Nutrient-rich sediment has been washed into targets for a treatment. mangroves in Queensland, The discovery is impressive for so the trees may shoot up” its speed and technical prowess, says William Gahl, director of Pancho hit the area in 2008. the UDP. “The role of adenosine Before the cyclone, the was not known before.” trees’ stems grew by less than 25 centimetres per year. After the cyclone, however, some stems shot up by 65 centimetres per year, thanks to floodwaters washing in soils enriched with nutrients from agricultural products. The team’s preliminary results were presented at last year’s International Congress of Ecology in Brisbane. Lovelock says sediment is already collecting in mangroves around Moreton bay, Queensland, following the recent floods and suggests that they, too, will –Risky alfalfa?– experience a growth spurt.
Off-the-shelf blood vessels made of collagen could be used for heart and kidney bypass operations, rather than patients’ own veins. They have been made by growing human cells on tubular scaffolds which then biodegrade. Stripping away the living cells leaves collagen tubes for transplant (Science Translational Medicine, DOI: 10.1126/ scietranslmed.3001426).
Cost-effective new face –Nutrients incoming–
Coastal water habitats are less likely to benefit, though. Michele Burford of Griffith University in Nathan, Australia, fears the sediment may stimulate algal growth in Moreton bay, which could lead to oxygen-starved dead zones similar to those seen in the Gulf of Mexico in the wake of last year’s oil leak. “Already, the algae are growing faster,” she says.
LHC to run longer THE Large Hadron Collider will operate through 2012 in order to keep searching for evidence of new physics, delaying a planned year-long shutdown by one year, to 2013. The LHC was due to power down at the end of 2011 to allow physicists to test and repair its superconducting magnets. The work is needed to ensure that the magnets can handle the high current required to produce proton collisions at 14 trillion electronvolts, twice the energy of collisions carried out at present. But physicists are impatient for discoveries. With the promise of an extra year’s data before the shutdown, they have their sights set on trying to find the Higgs boson, thought to give all particles their mass. “The next two years will be the magic years, if we are lucky,” says LHC physicist Guido Tonelli.
Facial transplant surgery is costly – but no more so than the alternatives. The first US face transplant, in 2008, has been costed at $350,959. But the 46-year-old recipient had spent four years undergoing traditional reconstructive surgical procedures totalling $353,480 (American Journal of Transplantation, DOI: 10.1111/j.1600-6143.2010.03373.x).
Nanotube screens Conducting polymers stabilised by carbon nanotubes have been used to make touchscreens at the Fraunhofer Institute for Manufacturing Engineering and Automation in Stuttgart, Germany. They replace the indium tin oxide normally used, and mean such screens will not have to rely on dwindling supplies of indium.
Bomb-detecting plants Tobacco plants have been developed that react to TNT vapour by turning white. The aim is to produce plants to serve as silent sentinels for bombs and explosives, although right now the plants take hours to change colour (PLoS One, DOI: 10.1371/ journal.pone.0016292).
Rise of the beaver Beavers’ closest living relatives are scaly-tailed flying squirrels, not gophers as was previously thought, a study of their mitochondrial DNA has found. The two groups diverged from a common ancestor 54 million years ago (PLoS One, DOI: 10.1371/ journal.pone.0014622).
5 February 2011| NewScientist | 5
AN 18-month wait for a diagnosis might seem extreme, but not when the medical disorder in question was formerly unknown. In 2008, the US National
Jean-Paul Ferrero/auscape
New disease found
60 Seconds
“The Undiagnosed Diseases Program helps people with mysterious conditions that elude diagnosis”
Finding a vein
“Quote to go in here over four lines range left like this Quote to go in her like this xxxxx”
andy sacks/getty
Institutes of Health established the Undiagnosed Diseases Program (UDP) to help people with mysterious conditions. This week it announced its first big discovery: the genetic and molecular basis of a previously After the flood unexplained condition that MANGROVES may be the unlikely causes painful calcification winners from Australia’s recent of the arteries. Currently, only nine individuals floods, benefitting from the nutrient-rich sediment that are known to have the disorder, dubbed “arterial calcification due was washed into their forests. So says Catherine Lovelock to CD73 deficiency”. Researchers of the University of Queensland analysed the DNA of five affected in St Lucia, Australia, whose team siblings and found that they all was recording how mangroves had mutations of the NT5E gene, which codes for the CD73 enzyme in Exmouth Gulf, Western Australia, respond to artificial that produces adenosine – a phosphorus and nitrogen molecule that helps prevent fertilisation when cyclone arteries from calcifying (The New England Journal of Medicine, vol 364, p 432). The findings offer “Nutrient-rich sediment has been washed into targets for a treatment. mangroves in Queensland, The discovery is impressive for so the trees may shoot up” its speed and technical prowess, says William Gahl, director of Pancho hit the area in 2008. the UDP. “The role of adenosine Before the cyclone, the was not known before.” trees’ stems grew by less than 25 centimetres per year. After the cyclone, however, some stems shot up by 65 centimetres per year, thanks to floodwaters washing in soils enriched with nutrients from agricultural products. The team’s preliminary results were presented at last year’s International Congress of Ecology in Brisbane. Lovelock says sediment is already collecting in mangroves around Moreton bay, Queensland, following the recent floods and suggests that they, too, will –Risky alfalfa?– experience a growth spurt.
Off-the-shelf blood vessels made of collagen could be used for heart and kidney bypass operations, rather than patients’ own veins. They have been made by growing human cells on tubular scaffolds which then biodegrade. Stripping away the living cells leaves collagen tubes for transplant (Science Translational Medicine, DOI: 10.1126/ scietranslmed.3001426).
Cost-effective new face –Nutrients incoming–
Coastal water habitats are less likely to benefit, though. Michele Burford of Griffith University in Nathan, Australia, fears the sediment may stimulate algal growth in Moreton bay, which could lead to oxygen-starved dead zones similar to those seen in the Gulf of Mexico in the wake of last year’s oil leak. “Already, the algae are growing faster,” she says.
LHC to run longer THE Large Hadron Collider will operate through 2012 in order to keep searching for evidence of new physics, delaying a planned year-long shutdown by one year, to 2013. The LHC was due to power down at the end of 2011 to allow physicists to test and repair its superconducting magnets. The work is needed to ensure that the magnets can handle the high current required to produce proton collisions at 14 trillion electronvolts, twice the energy of collisions carried out at present. But physicists are impatient for discoveries. With the promise of an extra year’s data before the shutdown, they have their sights set on trying to find the Higgs boson, thought to give all particles their mass. “The next two years will be the magic years, if we are lucky,” says LHC physicist Guido Tonelli.
Facial transplant surgery is costly – but no more so than the alternatives. The first US face transplant, in 2008, has been costed at $350,959. But the 46-year-old recipient had spent four years undergoing traditional reconstructive surgical procedures totalling $353,480 (American Journal of Transplantation, DOI: 10.1111/j.1600-6143.2010.03373.x).
Nanotube screens Conducting polymers stabilised by carbon nanotubes have been used to make touchscreens at the Fraunhofer Institute for Manufacturing Engineering and Automation in Stuttgart, Germany. They replace the indium tin oxide normally used, and mean such screens will not have to rely on dwindling supplies of indium.
Bomb-detecting plants Tobacco plants have been developed that react to TNT vapour by turning white. The aim is to produce plants to serve as silent sentinels for bombs and explosives, although right now the plants take hours to change colour (PLoS One, DOI: 10.1371/ journal.pone.0016292).
Rise of the beaver Beavers’ closest living relatives are scaly-tailed flying squirrels, not gophers as was previously thought, a study of their mitochondrial DNA has found. The two groups diverged from a common ancestor 54 million years ago (PLoS One, DOI: 10.1371/ journal.pone.0014622).
5 February 2011| NewScientist | 5