Publications by authors named "Carroll Flansburg"
Objectives: This study investigates whether genetic modifiers previously shown to influence adult fetal hemoglobin (HbF) levels and glucose-6-phosphate dehydrogenase deficiency were associated with variable symptomology in a small sample of collegiate football players with sickle cell trait.
Methods: Survey data on self-assessed symptoms and genotype data from five single nucleotide polymorphisms (SNPs) related to HbF production and two SNPs that cause glucose-6-phosphate dehydrogenase deficiency were collected from current and former college football players.
Results: In this sample, SNPs found within the β-globin gene cluster were found to be associated with a previous diagnosis of exertional sickling and experience of extreme heat during and after training.
Article Synopsis
- The study focuses on identifying disease-causing variants in the BRCA1 and BRCA2 genes within a large research group to aid in cancer prevention and diagnosis.
- Conducted on over 50,000 adult volunteers, it utilized exome sequencing to assess the prevalence of these variants and their impact on personal and family cancer history.
- Results showed that only 0.5% were BRCA1/2 carriers, with a significant portion of these individuals having no previous clinical testing for their variants.
There is growing interest in communicating clinically relevant DNA sequence findings to research participants who join projects with a primary research goal other than the clinical return of such results. Since Geisinger's MyCode Community Health Initiative (MyCode) was launched in 2007, more than 200,000 participants have been broadly consented for discovery research. In 2013 the MyCode consent was amended to include a secondary analysis of research genomic sequences that allows for delivery of clinical results.
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