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WEDNESDAY, Dec. 5, 2018 — A new warning has been added to the multiple sclerosis drug Lemtrada (alemtuzumab) after rare reports of patients suffering strokes and tears in the lining of the arteries in the head and neck, the U.S. Food and Drug Administration said. Most patients with these issues developed symptoms within a day […]
Researchers at Johns Hopkins have identified two patients with HIV whose immune cells behave differently than others with the virus and actually appear to help control viral load even years after infection. Moreover, both patients carry large amounts of virus in infected cells, but show no viral load in blood tests. While based on small […]
For children born with Saul-Wilson syndrome, and their parents, much of their lives are spent searching for answers. First defined in 1990, only 14 cases are known worldwide. And the cause of the syndrome—characterized by short stature, microcephaly (small head), hearing loss and early developmental delays—remained unknown. Today, these individuals have answers. “This is the […]
Scientists have long known that circulating tumor cells, rare cancer cells that are released into the bloodstream, have the potential to provide vital information about a person’s specific cancer. But until now, they have been unable to reliably access information on how these cells behave. UCLA researchers have created a quick and effective mechanism to […]
A multidisciplinary team at KK Women’s and Children’s Hospital (KKH) has developed a test to enable faster diagnosis of rare diseases to help critically ill children. Rapid genomic sequencing or RapidSeq of critically ill children in the neonatal and children’s intensive care units is a test, the first of its kind in Singapore, to provide […]
Today, diagnosing rare genetic diseases requires a slow process of educated guesswork. Gill Bejerano, Ph.D., associate professor of developmental biology and of computer science at Stanford, is working to speed it up. In a paper published July 12 in Genetics in Medicine, Bejerano and his colleagues describe an algorithm they’ve developed that automates the most […]
Teenager who triumphed over cancer: Girl, 16, who missed three years of school battling disease sits her GCSE exams and is voted prom queen by classmates at her end-of-school ball Charlotte Jenkins, from Stockport in Manchester, had acute myeloid leukaemia After years of gruelling treatment she was able to go to her end of school […]