Marc Rothenberg, MD, PhD
January 14, 2021

Marc Rothenberg, MD, PhD, is the director of the Cincinnati Center for Eosinophilic Disorders (CCED) at Cincinnati Children’s Hospital Medical Center and principal investigator of the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR). In his clinical practice and research work, he focuses on solving the mysteries of allergic inflammatory diseases, especially eosinophilic gastrointestinal disorders (EGIDs). Here, he shares his inspirations for studying rare diseases, recent discoveries, and future plans.

Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC)
December 07, 2020

Health care providers now have a road map for treating two types of congenital disorders of glycosylation: MPI-CDG and PGM1-CDG. A team of international experts from the Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) published new guidelines for the diagnosis and management of MPI-CDG and PGM1-CDG in the Journal of Inherited Metabolic Disease.

H. A. Jinnah, MD, PhD
December 01, 2020

H. A. Jinnah, MD, PhD, principal investigator of the Dystonia Coalition, reports here on a recent paper published in Neurology that examines the relationship between tremors and dystonia.

Laura Barisoni, MD
November 17, 2020

Laura Barisoni, MD, of the Department of Pathology and Medicine at Duke University and Co-investigator and Chair of the Pathology Working Group of the Nephrotic Syndrome Study Network (NEPTUNE), reports on a recent Nature Reviews Nephrology article examining the applications of digital pathology and computational image analysis in nephropathology.

Nitin Arora, MD, MPH; Craig Bierle, PhD; and Keerti Dantuluri, MD, MPH
November 06, 2020

The Congenital and Perinatal Infections Rare Diseases Clinical Research Consortium (CPIC) has awarded the inaugural CPIC Pilot Award to Nitin Arora, MD, MPH, and accepted the first CPIC Scholars, Craig Bierle, PhD, and Keerti Dantuluri, MD, MPH.

Dystonia Coalition
October 06, 2020

For the first time, researchers have comprehensively defined the demographic and clinical characteristics of upper limb dystonia, a rare disorder that affects muscles in the arms, forearms, and hands. Powered by the Dystonia Coalition database, the Movement Disorders publication is the largest study of limb dystonia to date.

Expression and localization of CFAP57 in human airway epithelial cells
September 16, 2020

A new gene is linked to primary ciliary dyskinesia (PCD), a rare disease that affects the airways. Using whole exome sequencing and bioinformatic analysis, researchers from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) identified a variant in the CFAP57 gene that causes PCD, as published in the journal PLOS Genetics.