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E-Mail IMAGE: Sergi Beltran and Leslie Matalonga pictured in front of a supercomputer and servers that hosts the RD-Connect GPAP platform. The platform is located at the CNAG-CRG facilities in the Parc. view more Credit: Centro Nacional de Análisis Genómico (CNAG-CRG) Rare disease experts detail the first results of an unprecedented collaboration to diagnose people living with unsolved cases of rare diseases across Europe. The findings are published today in a series of six papers in the European Journal of Human Genetics. In the main publication, an international consortium, known as Solve-RD, explains how the periodic reanalysis of genomic and phenotypic information from people living with a rare disease can boost the chance of diagnosis when combined with data sharing across European borders on a massive scale. Using this new approach, a preliminary reanalysis of data from 8,393 individuals resulted in 255 new diagnoses, some with atypical ....
A baby in England has been the first patient on the country’s NHS to receive a potentially life-saving new gene therapy to treat spinal muscular atrophy (SMA). Five-month-old Arthur Morgan was given a dose of the treatment known as Zolgensma at Evelina London Children s Hospital on May 25. Arthur was born in December last year and diagnosed with SMA, a rare and debilitating neuromuscular disease that prevents muscle development, just a few weeks ago. Babies born with SMA experience problems with movement, breathing, and swallowing. The novel gene therapy treatment, produced by US pharma giant Novartis Gene Therapies, repairs affected genes inside the cells, making it easier to manage and potentially cure the disease. ....
E-Mail By including multi-ethnic participants, a largescale genetic study has identified more regions of the genome linked to type 2 diabetes-related traits than if the research had been conducted in Europeans alone. The international MAGIC collaboration, made up of more than 400 global academics, conducted a genome-wide association meta-analysis led by the University of Exeter. Now published in Nature Genetics, their findings demonstrate that expanding research into different ancestries yields more and better results, as well as ultimately benefitting global patient care. Up to now, nearly 87 per cent of genomic research of this type has been conducted in Europeans. This means that the way these findings are implemented may not optimally benefit people from non-European ancestries. ....
Nearly three years after the Trump administration s Zero Tolerance policy went into effect, more than 445 children remain separated from their families, largely due to insufficient identifying paperwork and U.S. immigration officials failures to plan, track and reunite separated families. ....