Research Roundup. #RareDiseasesSpotlight. Rare Diseases Clinical Research Network
November 01, 2021

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

Headshot of Connie Lee, PsyD
October 26, 2021

Connie Lee, PsyD, is president and CEO of the Angioma Alliance and a member of the Brain Vascular Malformation Consortium (BVMC). She is also a licensed clinical psychologist and the mother of a daughter with multiple cavernous angiomas. Here, she shares her start in patient advocacy, current work, and future goals.

Headshot of Andrew Dhawan, MD, DPhil
October 22, 2021

The Developmental Synaptopathies Consortium (DSC) and PTEN Research Foundation are announcing the selection of their first-ever Young Investigator Award for PTEN hamartoma tumor syndrome (PHTS) research. 

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.