The University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences PhD student Alexandria Blackburn had a first-authored paper,DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract,published in the journal of遗传学in Medicine。Blackburn is affiliated with Program in遗传学和表观遗传学，她的顾问是Rachel K. Miller博士。

“Publishing this paper in a more clinical journal like遗传学in Medicinewill hopefully inspire collaborations betweenXenopusresearchers and clinicians to move the kidney field and science forward,” said Blackburn. “Ultimately, I want to advance human health by understanding what causes human disease and develop strategies to prevent and mitigate disease. This paper is the first step in getting me to that goal.”

In her research in the Miller lab, Blackburn uncovered a new gene important for kidney development calledDYRK1Aand found that the loss of this protein in the model system Xenopuslaevis(frog) led to abnormal kidney development.

Congenital anomalies of the kidney and urinary tract (CAKUT) are a leading cause of pediatric kidney failure and arise from nephron structure defects. If the nephron, the functional unit of the kidney, does not form properly, it can lead to a variety of kidney disorders that all lead to kidney failure.

布莱克本（Blackburn）的作品是在包括麦戈文医学院（McGovern Medical School）在内的多个机构中的合作；贝勒医学院；得克萨斯州儿童医院表明，199例DYRK1A综合征患者的肾脏或泌尿生殖器异常患病率要高得多。她的作品还发现，这种肾脏损失表型可以部分被人类拯救DYRK1ARNA; however, two different patient mutant RNAs failed to rescue the phenotype.

This failure could indicate that loss-of-function mutations in this gene are likely causative for the observed kidney abnormalities in some patients. Ultimately, understanding how theDYRK1Agene is important for normal kidney development will provide new insights into how CAKUT arises in DYRK1A-syndrome patients.

在这里阅读完整的论文。

布莱克本说：“作为三年级的博士生发表本文使我有信心我将为我的职业生涯的下一步做好准备。”“我相信本文还表明，我可以与研究利基市场以外的人合作，这对未来的行业和政府部门的雇主来说是一个加分，这是我希望在研究生院毕业后结束的。”beplay苹果手机能用吗

GSBS alumna Dolores J. Lamb, PhD, and GSBS faculty member David F. Rodriguez-Buritica, MD, also contributed to this research. See article for complete list of contributors.

In addition to this paper, Blackburn had a review,Modeling congenital kidney diseases inXenopus laevis，发表在《杂志》四月号的封面上疾病模型和机制。本文阐明如何使用Xenopus作为一个模型，有助于阐明对肾脏发育重要的机制以及在这段时间内如何出现先天性肾脏疾病。

She is also a 2019-2020 Schissler Foundation Fellow, and received 1st place in the post-candidacy poster competition at 2019 GSBS Graduate Student Research Day.