The Yale Journal of Biology and Medicine’s (YJBM's) December 2021 issue on rare disease has been published on PubMed Central. This focus issue features articles on just a few of the estimated 7,000 rare diseases people in the world experience.
As we get closer to Rare Disease Day on February 28, 2022, YJBM hopes to spotlight the critical need for an emphasis on rare disease research.
Highlights of the issue include an original contribution by Matthew Nitzahn, David Geffen School of Medicine at UCLA, and colleagues. They investigate CPS1 deficiency, which leads to toxic levels of plasma ammonia, and CPS1-deficient induced pluripotent stem cells (iPSCs). Their research emphasizes the growing need for quality control studies as these types of therapies continue to be explored.
Another original contribution by Dragana Protic, Faculty of Medicine, University of Belgrade, Belgrade, Serbia, et al., assessed general and pharmacotherapy’s knowledge of fragile X syndrome and satisfaction with education in neurodevelopmental disorders (NDDs) among senior medical students in Serbia, the Republic of Georgia, and Colombia.
YJBM also presents a case series on Behçet’s disease (BD) from Tânia Barros, Centro Materno Infantil Do Norte, Centro Hospitalar Universitário Do Porto, Porto, Portugal, et al. BD is a rare chronic multisystemic vasculitis of unknown etiology and this paper follows the pregnancy outcomes of patients with the disease.
An important “Perspectives” piece from Alexa T. McCray and Kimberly LeBlanc, both of the Department of Biomedical Informatics, Harvard Medical School; and the Undiagnosed Diseases Network, showcases patients with rare disease as partners engaging early on in their own care and research.
Read the entire YJBM archive at no cost on PubMed Central. The YJBM is open access for all.
Deputy Editors of this issue are Aishwarya Nene and Shobana Subramanian, Yale School of Medicine. Introduction to the issue: Cecelia Harold, Department of Genetics, Yale School of Medicine.