Headshots of Jehan Mousa and Diederik De Graef
October 20, 2021

The Frontiers in Congenital Disorders of Glycosylation Consortium (FCDGC) has named Jehan Mousa and Diederik De Graef as their 2021 Career Enhancement Fellows.

Headshot of Anthony Anzell, PhD
October 19, 2021

Anthony Anzell, PhD, is a postdoctoral fellow at the University of Pittsburgh studying hereditary hemorrhagic telangiectasia (HHT). He also happens to be an HHT patient. Here, Dr. Anzell shares his HHT journey, from diagnosis, to ultramarathons, to the lab. 

CPIC Seminar Series
October 19, 2021

The Congenital and Perinatal Infections Consortium (CPIC) is pleased to announce several upcoming events in its ongoing Seminar Series.

Headshot of Douglas Marchuk, PhD
October 13, 2021

Douglas Marchuk, PhD, is the director of the Division of Human Genetics at Duke University and member of the Brain Vascular Malformation Consortium (BVMC). His laboratory studies the genetics of cardiovascular disease using both the human and the mouse as a model system, primarily focusing on inherited diseases of vascular dysplasia. Here, he shares his start in rare disease research, exciting discoveries, and future goals.

Headshot of Helen Kim, PhD
October 07, 2021

Since its initial funding in 2009, the Brain Vascular Malformation Consortium (BVMC) has conducted clinical research and improved the care of patients with brain vascular malformations, conditions in which blood vessels of the brain are affected. Here, Helen Kim, PhD, principal investigator of the BVMC, shares the history of the consortium, current research, and future plans.

Research Roundup. #RareDiseasesSpotlight. Rare Diseases Clinical Research Network
October 05, 2021

Each month, we share summaries of recent Rare Diseases Clinical Research Network (RDCRN) grant-funded publications. Catch up on the latest RDCRN research here.

Brittle Bone Disorders Consortium logo
August 12, 2021

Children with osteogenesis imperfecta (OI) may experience growth plate dysfunction, according to a recent study in the journal Bone. Researchers from the Brittle Bone Disorders Consortium (BBDC) found a higher ratio of collagen X (CXM) levels for growth velocity in children with OI, revealing new clues about how this disease may affect the growth plate.