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Researchers identify gene mutation that can cause key-hole shape defect in eye

A scientific collaboration, involving the Manchester Centre for Genomic Medicine (MCGM) at Saint Mary’s Hospital, UK, and the Telethon Institute of Genetics and Medicine (TIGEM) in Naples, Italy, has pinpointed the genetic cause of a rare form of blindness, which can present itself as a key-hole shaped defect in the eye in newborn babies. The [...]

Reprogenetics announces first live births following use of novel Karyomapping technique in embryos produced through in vitro fertilization

Reprogenetics, one of the largest U.S. genetics laboratories specializing in Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis (PGD), has announced the arrival of the first babies born worldwide following the use of Karyomapping technology. This new approach allows PGD of most single gene disorders in embryos produced through in vitro fertilization (IVF). Karyomapping has [...]

Novel approach to diagnosing ciliopathies

Cilia, the cell’s tails and antennas, are among the most important biological structures. They line our windpipe and sweep away all the junk we inhale; they help us see, smell and reproduce. When a mutation disrupts the function or structure of cilia, the effects on the human body are devastating and sometimes lethal. The challenge [...]

Origins of genetic disorders traced 20 times more accurately with new software

KU Leuven researchers have successfully applied advanced artificial intelligence to enable the automated analysis of huge amounts of genetic data. Their new software suite, eXtasy, automatically generates the most likely cause of a given genetic disorder. The breakthrough directly impacts the treatment of millions of people with a hereditary disease. At least 5% of the [...]

Functional genetic variation in humans: Comprehensive map published

European scientists, led by researchers from the University of Geneva (UNIGE)’s Faculty of Medicine in the context of the GEUVADIS project, today present a map that points to the genetic causes of differences between people. The study, published in Nature and Nature Biotechnology, offers the largest-ever dataset linking human genomes to gene activity at the [...]