Brain Vascular Malformation Consortium (BVMC)
June 11, 2020

In patients with cavernous angioma (CA), lesions in the brain are caused by imbalances in the gut microbiome, according to a new study in the journal Nature Communications. Data from the Brain Vascular Malformation Consortium (BVMC) helped researchers make this connection, the first of its kind in any human neurovascular disease.

Paneez Khoury, MD, MHSc
June 04, 2020

APFED and CEGIR have awarded a 2020 co-funded pilot grant to Paneez Khoury, MD, MHSc, of the @National Institute of Allergy and Infectious Disease’s Human Eosinophil Section, for a promising research study that will provide the first examination of gastric motility in patients with eosinophilic gastritis (EG).

Dr. Khoury’s project will examine if allergy mediated inflammation causes fibrostenotic changes in the stomach tissue to contribute to commonly experienced EG symptoms, such as bloating and early satiety, and if it causes a slower emptying of stomach contents into the small intestine. This important work will influence the selection of drugs that will be studied in future EG clinical trials. Learn more…

June 02, 2020

An important feature of the Rare Diseases Clinical Research Network (RDCRN) is the direct involvement of patient advocacy groups in our operations, activities, and strategies. To celebrate these powerful collaborations, we worked with patient advocacy groups to share stories of patient involvement in RDCRN research. These stories demonstrate our goals in action—fostering collaboration to advance the diagnosis, management, and treatment of rare diseases.

Mustafa Sahin, MD, PhD
May 29, 2020

Mustafa Sahin, MD, PhD, leads a team of researchers, physicians and patient advocacy groups working across ten medical centers to study three rare genetic syndromes that often cause autism spectrum disorder and intellectual disability. Here, Dr. Sahin talks about his experiences as a physician and researcher working on the front lines during the pandemic.

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.