In Norway, all newborn children are tested for 25 rare genetic diseases through the Newborn Screening program, and the most common of these is phenylketonuria (abbreviated to PKU), known as Folling Disease. Every year, between 3-7 children are born in…
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GTEx findings reveal genetic regulatory variation across tissues and cell types
The multi-institutional Genotype-Tissue Expression (GTEx) Consortium, in a final-phase initiative co-led by Tuuli Lappalainen, Ph.D., Core Faculty Member at the New York Genome Center, has published its final set of studies. The new research presents a comprehensive atlas that maps…
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New findings about the development of brain tumors could lead to more effective treatment
For the first time, an international study team with substantial participation from researchers from the Comprehensive Cancer Center (CCC) of MedUni Vienna and Vienna University Hospital, has identified the molecular differences between individual tumor cells in ependymomas, which are an…
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Multi-institutional study looks at brain MRI findings in COVID-19
A new multi-institutional study published in the journal Radiology identifies patterns in abnormal brain MRI findings in patients with COVID-19. Current data on central nervous system (CNS) involvement in COVID-19 is uncommon but growing, demonstrating a high frequency of neurological…
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Researchers unlock TB vaccine puzzle in findings that could save millions of newborns
An international research team has identified the mechanism behind one of science’s most enduring mysteries: what makes the 100-year-old tuberculosis (TB) vaccine so effective at preventing newborn deaths from diseases other than TB? The ability of Bacillus Calmette-Guérin (BCG)—one of…
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Findings in mice reveal possibilities for fetal drug therapy for deafness
New research led by hearing scientists at Oregon Health & Science University suggests an avenue to treat and prevent intractable genetic disorders before birth. Researchers at the Oregon Hearing Research Center, working with mice, injected a specially designed synthetic molecule…
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