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.

Kent Lai, PhD, and Lan Lin, PhD
September 11, 2020

The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) has awarded 2020 FCDGC Pilot Grants to Kent Lai, PhD, and Lan Lin, PhD.

Zoe Fang, an osteogenesis imperfecta (OI) patient, at an arcade
August 26, 2020

In a new study, researchers in the Rare Diseases Clinical Research Network’s Brittle Bone Disorders Consortium (BBD) surveyed adolescents with osteogenesis imperfecta (OI) to learn about their oral symptoms and how these affect their quality of life. Participants’ answers are clarifying the oral health needs of kids with OI and guiding future research for orthodontic interventions.

Carolina Barnett-Tapia, MD, PhD
July 08, 2020

The Myasthenia Gravis Rare Disease Network (MGNet) has awarded the 2020 MGNet Pilot Award to Carolina Barnett-Tapia, MD, PhD, Assistant Professor, Department of Medicine (Neurology) and Institute of Health Policy, Management and Evaluation, University of Toronto. Dr. Barnett-Tapia specializes in patient-centered outcomes in neuromuscular disorders, researching patients’ perspectives on their symptoms and treatments.