Video abstract with graphic showing the process of O-glycosylation
May 26, 2020

Seven patients now have a name for their specific congenital disorder of glycosylation (CDG)—a new type called GALNT2-CDG. Researchers from Frontiers in Congenital Disorders of Glycosylation (FCDGC) describe the new disorder, caused by mutations in the GALNT2 gene, in the journal Brain.

An estimated 30 million people in the United States are affected by rare diseases. Complete an online survey from the NIH-funded Rare Diseases Clinical Research Network to help researchers understand the impacts of COVID-19 on the rare disease community.
May 08, 2020

Rare disease patients or their caregivers are invited to complete a 20-minute online survey from home about the ways the novel coronavirus pandemic is impacting people with rare diseases and their families.

Genetic Disorders of Mucociliary Clearance Consortium
May 05, 2020

What is the genetic cause behind impaired mucociliary clearance of the lungs? Researchers from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC) contributed to the discovery of a new disease gene, NEK10, that regulates cilia length.

Michio Hirano, MD, and Emanuele Barca, MD, PhD
April 30, 2020

For the first time, researchers have described the spectrum of mitochondrial diseases (MtDs) in North America. A new study in Neurology Genetics uses data from the North American Mitochondrial Disease Consortium (NAMDC) Registry to evaluate the clinical, biochemical, and genetic features of patients with MtDs.

SARS-CoV-2
April 07, 2020

The patient advocacy groups that partner with the Rare Diseases Clinical Research Network are working hard to support rare disease patients and families during the COVID-19 pandemic. Collected here are several resources they have developed to support their patient and family communities. This post will be updated as new resources are added.

Patients and researchers affiliated with the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR)
February 24, 2020

A strong collaboration between researchers and patient advocacy groups in the Consortium of Eosinophilic Gastrointestinal Disease Researchers (CEGIR) is demonstrating how partnering with patients can accelerate discoveries for rare diseases.

Rare Disease Day at NIH
February 18, 2020

Interested in learning more about the Rare Diseases Clinical Research Network (RDCRN)’s fourth funding cycle and hearing stories of patient engagement in research? Plan to visit the RDCRN’s poster and exhibit table at Rare Disease Day at NIH on Friday, February 28 in Bethesda, Maryland. If you’re not able to attend in person, follow the action on social media using the hashtags #RDDNIH and #RDCRNPatientPartners.