Thanks to a study funded by the CDCN's Castleman Disease Warriors, the Wharton Class of 2015, and the Penn Orphan Disease Center, the first whole genome sequencing of Castleman patients was carried out by Dr. Minji Byun!
Dr. Minji Byun, an Assistant Professor of Medicine at the Icahn School of Medicine at Mount Sinai, conducted a research study which had the goal of seeing if a possible cause of CD could be a genetic defect. In her study, she used a special technique called “Whole Genome Sequencing” to map out the complete set of genetic material in 14 CD patients to see if there was any common genetic defect among them. The first publication from her research described a mutation in a particular gene called the FAS gene in a family who had multiple members with CD. She is now performing further research looking at other genes identified from her whole genome sequencing data in hopes of better understanding how mutations may play a role in CD. Dr. Byun's published paper can be found here.
In the true spirit of collaborative research, Dr. Byun made the whole genome sequencing data from the CD patients in her study publicly available! Now, any researcher can study this data which will hopefully lead to more findings, additional studies, and a greater understanding of any genetic component to CD that may exist. The whole genome sequencing data on idiopathic multicentric CD and unicentric CD patients from this study can be found here.
Minji Byun, PhD
Dr. Byun’s research was funded in part by the CDCN’s Castleman Warriors, a group of CD patients dedicated to raising money for rare disease research. We hope that studies like this will continue to inspire researchers, Castleman Warriors, and the greater community to continue to participate and help in the fight against CD.The CDCN now hopes to support an even larger Castleman Genome Project for whole genome sequencing of 200-250 patients to learn more about the relationship between genetics and CD! To support this and other similar research, donate to the CDCN today!