Case Studies In Genetics

遗传学案例研究

• 批准号: 8149605
• 负责人: Alejandro A Schaffer
• 金额: $ 56.8万
• 依托单位: NATIONAL LIBRARY OF MEDICINE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/8149605
• 关键词: Amish; Biological; Cancer Model; Case Study; Collaborations; Data; Databases; Disease; Genealogy; Genes; Genetic; Goals; Human; IL10RB gene; Inflammatory Bowel Diseases; Journals; London; Maps; Maryland; Medicine; Methods; Mutation; Mycoses; New England; Predisposition; Research Infrastructure; Stem cell transplant; career; improved

During my career I have worked on several projects creating software (FASTLINK, CASPAR, rh_tsp_map, PedHunter, etc.) and a database (Anabaptist Genealogy database) for genetic studies. My association with this software and a past track record of effective collaboration with wet lab scientists leads to more such collaborations. Three highlights from the past year are: -- publication n the New England Journal of Medicine of a new study showing that a homozygous mutation in the gene CARD9 causes susceptibility to fungal infections in humans -- publication in the New England Journal of Medicine of a new study showing that mutations in either of the genes IL10RA and IL10RB cause neonatal-onset inflammatory bowel disease (IBD) and ahowing that this form of IBD can be treated by a hemotopoietic stem cell transplant -- release of a substantially improved version of the genealogy software PedHunter now version 2.0), accopanied by a study of the founder structure of the Old Order Amish. The work on CARD9 deficiency was done in collaboration with Bodo Grimbacher (University College London), and Ulrich Salzer (Univerity of Freiburg). The work on IL10R deficiency was done in collaborations with Bodo Grimbacher (University College London), and Ulrich Salzer (Univerity of Freiburg), and Christoph Klein (Medical School of Hannover) The work on the Amish study was done in collaboration with Richa Agarwala (NIH/NCBI) and Toni Pollin (University of Maryland Medical School)

在我的职业生涯中 用于遗传研究的数据库等）和数据库（洗礼家谱数据库）。 我与该软件的关联以及有效协作的过去记录 凭借湿实验室的科学家，可以进行更多此类合作。 过去一年的三个亮点是： - 新英格兰医学杂志的新研究表明，纯合子 基因Card9突变会导致对人类真菌感染的敏感性 - 一项新研究的新英格兰医学杂志上的出版物，表明该突变 IL10RA和IL10RB基因都会引起新生儿发炎性肠病（IBD）和 令人震惊的是，这种形式的IBD可以通过血动体干细胞移植治疗 - 释放家谱软件的大大改进版本 现在版本2.0），通过对旧秩序阿米什人的创始人结构进行的研究而产生的。 Card9缺乏症的工作是与 Bodo Grimbacher（伦敦大学学院）， Ulrich Salzer（Freiburg的Univerity）。 IL10R缺乏症的工作是与 Bodo Grimbacher（伦敦大学学院）， Ulrich Salzer（Freiburg的Univerity）和Christoph Klein（汉诺威医学院） Amish研究的工作是与Richa Agarwala（NIH/NCBI）和Toni Pollin（马里兰大学医学院）合作完成的