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Organoids Reveal Common Mechanism Underlying Rare Disorders Genetic testing has shown that mutations in a gene called HUWE1 are connected to rare syndromes that cause developmental problems, including stunted growth and difficulties with movement. Some patients are so severely impacted that they never learn to speak. There is no cure for these HUWE1-associated diseases. While genetic sequencing can t always show scientists how to treat these disorders, knowing that they are caused by genetic errors can sometimes be a comfort to families. Molecular techniques have now also enabled researchers to examine the physiological impact of those genetic errors. Many parents are afraid that the cause of their child s condition stems from something they could have avoided. A lot of parents have thought this for years before the child is referred and given a genetic diagnosis, which often adds an extra burden to their situation. Once they know that damage to a gene is the cause, many of them a

Norwegian university of scienceOlavs hospitalProfessor barbaraCell reports medicineNorwegian universityCell reportsநோர்வே பல்கலைக்கழகம் ஆஃப் அறிவியல்ப்ரொஃபெஸர் பார்பராசெல் அறிக்கைகள் மருந்துநோர்வே பல்கலைக்கழகம்செல் அறிக்கைகள்