We recently launched the new GARD website and are still developing specific pages. National Center for Advancing Translational Sciences. Pandemic Laboratory Preparedness SciLifeLab has been commissioned by the government to build laboratory capacity to assist in future pandemics. Bloom syndrome - Getting a Diagnosis - Genetic and Rare Diseases Information Center.Precision Medicine SciLifeLab aims to bring cutting-edge technologies and first-class expertise directly to hospitals, building the foundation of tomorrow’s data-driven Precision Medicine.Helicases are enzymes that attach (bind) to DNA and unwind the two spiral strands (double helix) of the DNA molecule. Bloom syndrome is due to mutations in the BLM gene. Planetary Biology By combining SciLifeLab infrastructure, and the data-driven life science approach with a focus on planetary biology, the capability will create opportunities with a strong impact on ecosystem science. BLM gene BLM RecQ like helicase Normal Function The BLM gene provides instructions for making a member of a protein family called RecQ helicases. Bloom syndrome, also called Bloom-Torre-Machacek syndrome or congenital telangiectatic erythema, is a rare autosomal recessive inherited disorder characterized by genomic instability and predisposition to the development of all types of cancer.It is an autosomal recessive disorder that is characterized by short stature, a rash that. Fellows program Career program for outstanding young group leaders, recruited through our host universities Bloom Syndrome is also known as Bloom-Torre-Machacek syndrome.In order to prevent or treat infection, people with Bloom syndrome may need to be constantly watched by a doctor and use antibiotics or other medications. Group leaders Get to know the over 200 research groups affiliated with SciLifeLab Bloom syndrome carries a higher risk of developing cancer, among other consequences, which can make daily life challenging.Infrastructure organization Management of infrastructure platforms and their units Our aim was to create and characterize a zebrafish ( Danio rerio ) disease model for Bloom syndrome, a recessive autosomal disorder.Recent user publications Discover the latest research papers from projects enabled by our infrastructure.Find services Find the right technology or expertise for your research project.Overview Services provided by our national research infrastructure.
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