Bloom medical
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The molecular functions of BLM are many, including rescuing stalled forks and dissolving double Holliday junctions and BLM interacts with other DNA-repair proteins including BRCA1, ATM, and RAD51. From a molecular perspective, the BLM gene is one of the so-called “guardians of the genome” because of its importance in maintaining the structure and integrity of DNA ( Larsen and Hickson 2013) without the BLM protein, cells exhibit features of chromosomal instability, leading to the greatly increased incidence of cancer seen in BS. 2017), BS is clinically variable and has primary features that include growth, dermatologic, and endocrine issues, along with a greatly increased risk of cancer. As recently described in a review ( Cunniff et al. Since 1960, the Bloom's Syndrome Registry 4 (BSR) has existed to collect biological samples and natural histories of persons with BS. Since BS was first reported, approximately 300 cases have been documented ( Sanz et al. Bloom syndrome (BS) is now known to be an autosomal recessive genetic disorder affecting the BLM gene, which codes for a DNA helicase protein in the RECQ family ( Cunniff et al. In 1954, David Bloom, a dermatologist in New York City, reported the cases of three children with short stature and telangiectatic erythema, and noted that the cause was likely a genetic syndrome ( Bloom 1954). We also outline a patient-centered research and community action road map with the goal of improving and prolonging the lives of persons with Bloom syndrome, including the facilitation of precision medicine development specific to this condition. Herein, Zachary Rogers recounts his experience as a cancer patient with BS contemplating a substantially customized chemotherapy regimen that highlights the need for development of individualized treatments in the BS community.
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Presently, there are no known clinically actionable targets specific to persons with this cancer predisposition syndrome, despite the fact that standard cancer treatments are often contraindicated or must be substantially modified for persons with BS. With fewer than 300 documented cases since BS was first described in 1954, its rarity has challenged progress in advancing both the care of and the cure for persons with BS. Cancer is the leading cause of death for persons with BS, and its early onset results in a reported median lifespan of <30 years.
BLOOM MEDICAL SKIN
Bloom syndrome (BS) is a rare, autosomal recessive genetic disorder characterized by short stature, a skin rash associated with sun exposure, and an elevated likelihood of developing cancers of essentially all types, beginning at an early age.