@article{9a0581965dc74fc7a92c1117e6376037,
title = "In search of a cure: PACS1 Research Foundation as a model of rare disease therapy development",
abstract = "Rare diseases affect nearly 400 million people worldwide and have a devastating impact on patients and families. Although these diseases are collectively common, they are often overlooked by the research community. We present the ongoing work of the PACS1 Syndrome Research Foundation as a paradigm for approaching rare disease research.",
author = "Lauren Rylaarsdam and Taruna Reddy and Alicia Guemez-Gamboa",
note = "Funding Information: The authors acknowledge the pivotal role of the PACS1 families and the PACS1 Syndrome Research Foundation. We thank the PACS1 Syndrome Research Foundation Scientific Advisory Board and scientific team including Drs Anne T. Berg, Dana Byrd, Kun Chen, Sebastien Gingras, Angela M. Gronenborn, Yishi Jin, Troy Krzysiak, Jean-Dominique Vassalli, Sabrina Villar-Pazos, Gary Thomas, Laurel Thomas, Zachary P. Wills, and Yunhan Yang for feedback on the manuscript. The authors declare no conflicts of interest. Publisher Copyright: {\textcopyright} 2021 Elsevier Ltd",
year = "2022",
month = feb,
doi = "10.1016/j.tig.2021.10.010",
language = "English (US)",
volume = "38",
pages = "109--112",
journal = "Trends in Genetics",
issn = "0168-9525",
publisher = "Elsevier Limited",
number = "2",
}