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