6/11/2023 0 Comments Bloom syndromeI was born weighing 3 lbs, 15 oz and was full-term. Hi, my name is Zach Rogers and I have Bloom's syndrome. Previous Section Next Section ZACH'S STORY We begin with excerpts from one patient's story in his own words. (2017).Īs part of the 2017 Pediatric Cancer Nanocourse hosted by the Children's Cancer Therapy Development Institute 5 in Beaverton, Orgeon, the authors (1) reviewed the BS literature, (2) discussed the state of the field with several currentīS researchers and clinicians to identify gaps in the current research, and (3) compiled a needs assessment to identify topics These functions and interactionsĪre further described in Cunniff et al. Junctions and BLM interacts with other DNA-repair proteins including BRCA1, ATM, and RAD51. The molecular functions of BLM are many, including rescuing stalled forks and dissolving double Holliday Of DNA ( Larsen and Hickson 2013) without the BLM protein, cells exhibit features of chromosomal instability, leading to the greatly increased incidence 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 2017), BS is clinically variable and has primary features that include growth, dermatologic, and endocrine issues, along withĪ greatly increased risk of cancer. 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 telangiectaticĮrythema, and noted that the cause was likely a genetic syndrome ( Bloom 1954). Previous Section Next Section INTRODUCTION Improving and prolonging the lives of persons with Bloom syndrome, including the facilitation of precision medicine development We also outline a patient-centered research and community action road map with the goal of With BS contemplating a substantially customized chemotherapy regimen that highlights the need for development of individualized Herein, Zachary Rogers recounts his experience as a cancer patient Or must be substantially modified for persons with BS. ![]() Persons with this cancer predisposition syndrome, despite the fact that standard cancer treatments are often contraindicated Presently, there are no known clinically actionable targets specific to ![]() With fewer than 300 documented cases since BS was first described in 1954, its rarity has challenged progress in advancingīoth the care of and the cure for persons with BS. Is the leading cause of death for persons with BS, and its early onset results in a reported median lifespan of <30 years. With sun exposure, and an elevated likelihood of developing cancers of essentially all types, beginning at an early age. Bloom syndrome (BS) is a rare, autosomal recessive genetic disorder characterized by short stature, a skin rash associated
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