All posts tagged: Rare diseases

Scientists design new RNA therapy to bypass mutations behind thousands of genetic diseases

Scientists design new RNA therapy to bypass mutations behind thousands of genetic diseases

Scientists engineered transfer RNA to bypass premature genetic stop signals and restore production of full-length proteins in cystic fibrosis models. A single chemical modification increased some engineered tRNAs’ activity, while a custom lipid nanoparticle delivered the therapy to key airway cells. Because the same premature stop signals appear across many genes, the approach could eventually provide a common treatment strategy for multiple genetic diseases. A small error in genetic instructions can bring protein production to an abrupt halt. Instead of building the complete molecule a cell needs, its machinery encounters a premature stop signal and produces a shortened protein, or sometimes almost none at all. Scientists at the University of Toronto have now developed an RNA-based approach designed to get past those faulty stop signs. By chemically modifying transfer RNA, or tRNA, and packaging it inside specially designed lipid nanoparticles, the researchers restored full-length proteins in laboratory, animal and patient-derived models of cystic fibrosis. The study focuses on so-called nonsense mutations, which account for about 11% of inherited genetic disorders. Because the same types of …

Scientists identify hundreds of ancient genes associated with human diseases

Scientists identify hundreds of ancient genes associated with human diseases

When a child develops kidney failure or a rare bone disorder, the cause can seem painfully immediate. It may be a single broken gene, a sudden diagnosis, or a family searching for answers. However, some of those faults may trace back nearly two billion years, to a one-celled ancestor shared by every plant, animal, and fungus alive today. A University of Texas at Austin-led team has now reconstructed the most detailed map yet of the protein networks inside that ancestor, known as the last eukaryotic common ancestor, or LECA. In doing so, the researchers built a new way to hunt for disease genes in humans. They used some of the oldest molecular machinery in complex life as a guide. Their study, published in Cell Genomics, suggests that the deep history of life is not just a story about origins. It can also help explain why modern bodies fail. Rachael Cox, a former UT doctoral student who led the data analysis in the lab of senior author Edward Marcotte, said the approach proved unexpectedly powerful. “There …

Passengers begin to leave hantavirus ship at Tenerife – POLITICO

Passengers begin to leave hantavirus ship at Tenerife – POLITICO

Spanish Health Minister Mónica García said the disembarkation was “proceeding normally” and that all passengers on board the MS Hondius were still asymptomatic. The passengers are being brought ashore by nationality via small boats, according to tour operator Oceanwide Expeditions. Their luggage will remain aboard the ship, which will continue on to the Port of Rotterdam with the remaining crew. It is expected to take five days for the ship to reach the Netherlands. The MV Hondius anchored early Sunday at the Port of Granadilla in the Canary Islands, where Spanish authorities set up large reception tents and restricted access to the waterfront. France, Germany, Belgium, Ireland and the Netherlands sent planes to repatriate their citizens, while the European Union sent two additional planes for the remaining EU nationals, Spanish Interior Minister Fernando Grande-Marlaska told a press conference on Saturday in Madrid. The United States and Britain are coordinating planes for non-EU citizens from countries that were unable to send transport. All of the more than 100 passengers are being tested for the hantavirus, which …