Chair – Douglas Marchuk, PhD
Douglas Marchuk, Ph.D., is the James B. Duke Professor of Medical Genetics and Microbiology and Director of The Division of Human Genetics at the Duke University Medical Center. Dr. Marchuk’s lab identified the CCM1 and CCM2 genes in 1999 and 2002, respectively. Currently, his team uses human genetic studies and mouse models to understand the mechanisms behind cavernous malformation formation. He also collaborates with Dr. Issam Awad’s study team to investigate drug treatments in mouse models of cavernous malformation. He has been a co-organizer of the annual Alliance to Cure Cavernous Malformation CCM Scientific Meeting, along with Dr. Issam Awad and Chief Scientific Officer Amy Akers, since its inception in 2005.
Vice Chair – Brent Derry, PhD
Dr. Derry is a Senior Developmental & Stem Cell Biology Scientist at the University of Toronto, SickKids Hospital. He serves as the University of Toronto’s Canadian Research Chair of Genetic Models of Human Disease. His research interests primarily focus on using C. elegans (worms) as a model for human disease and studying the molecular mechanisms for the normal process of programmed cell death. This line of research has led him to discover a unique function in the worm versions of CCM1 and CCM3 and has demonstrated how worms can be a fantastic research tool for learning about the basic biology of a disease system.
Chair emeritus – Issam Awad, MD, MSc, FACS
Rustam Al-Shahi Salman MA MB BChir PhD FRCP Edin FHEA FESO
Rustam Al-Shahi Salman MA(Cantab) MB BChir Ph.D. MRCP(UK) is a clinician-scientist and Professor of Clinical Neurology at the University of Edinburgh, Scotland. He is the principal investigator for the Research to Understand Stroke due to Hemorrhage (RUSH) program and leads the Scottish Intracranial Vascular Malformation Study (SIVMS), a population-based cohort study that follows individuals diagnosed with AVMs, cavernous malformation, and venous angioma. Dr. Al-Shahi Salman was instrumental in developing the Consensus Guidelines for the Clinical Management of Cerebral Cavernous Malformations and has been a primary reviewer and advisor for the construction of the clinical database associated with the Alliance to Cure Cavernous Malformation DNA/Tissue BioBank and Patient Registry.
Kelly Flemming, MD
Dr. Flemming is a neurologist at the Mayo Clinic in Rochester, Minnesota, and serves as the Medical Director for the CCM Center of Excellence at her institution. In addition to her clinical responsibilities, Dr. Flemming runs a research project dedicated to investigating the natural history of CCM illness. Her research aims to better understand the long-term behavior of CCM lesions (risk of bleeding, seizure, etc.) and how these activities affect the human condition. Dr. Flemming has established a prospective research registry to track her patients’ lifestyle factors, medical history, and treatment over time. She is also a participating investigator in the Trial Readiness in Cavernous Angioma with Symptomatic Hemorrhage (CASH) study. This type of research helps to inform both clinical decision-making as well as clinical trial design.
Kevin Whitehead, MD
Dr. Whitehead is a Professor of Cardiovascular Medicine at the University of Utah and an adjunct professor of Pediatric Cardiology at Primary Children’s Medical Center. He is the Director of the Utah Adult Congenital Heart Disease program and the Medical Director for the HHT Center of Excellence. His research interests focus on developing and characterizing mouse models for cardiovascular diseases that cause hemorrhage and stroke. Dr. Whitehead has worked to investigate the abnormalities of blood vessel development in CCM mice, and he was part of the team that first discovered the effects of statin drugs on CCM blood vessels.
Helen Kim, MPH, PhD
Dr. Kim is a genetic epidemiologist and Professor at the University of California San Francisco Department of Anesthesia. Dr. Kim specializes in stroke and cardiovascular disease research; her work aims to understand the risk factors associated with stroke and hemorrhage. Dr. Kim works closely with Alliance to Cure Cavernous Malformation and is a lead investigator on the Brain Vascular Malformations Consortium project. Her team is looking for genetic changes (modifiers) responsible for CCM symptom variation within families.
Angeliki Louvi, PhD
Dr. Louvi is an Associate Professor of Neurosurgery and Neuroscience at Yale University. Her research interests focus on understanding the molecular mechanisms that control cellular brain structures and contribute to brain diseases like CCM. Dr. Louvi’s work with CCM3 mouse models has helped us understand this protein’s complex and wide-ranging roles in brain blood vessels and surrounding neuro-related cells.
Scientific Advisory Board Alumni
We want to thank the following former board members for their years of service and continued support…
Michel Berg, MD
Michel Berg, M.D. is an Associate Professor of Neurology and the Medical Director of the Strong Epilepsy Center at the University of Rochester Medical Center, Rochester, NY.
José Biller, MD
Dr. José Biller is a neurology and neurological surgery professor at the Loyola University Chicago Stritch School of Medicine.
Eric Johnson, PhD
Eric Johnson is the founder, CEO, and clinical director of ACireGeneTics. His former positions include senior research scientist, director of the Neurogenetics laboratory, and chief of the Molecular Diagnostics Laboratory at the Barrow Neurological Institute.
Leslie Morrison, MD
Dr. Leslie Morrison has recently retired as a pediatric neurologist and an assistant professor at the University of New Mexico Medical School. Her longtime service to the CCM community included directorship of the Center of Excellence at UNM and as the lead investigator of the BVMC project.
Atif Zafar, MD
Dr. Atif Zafar has moved from the University of New Mexico to St. Michael’s Hospital in Toronto. He was the Director of the CCM Center of Excellence at UNM and has been working to build a CCM program at St. Michael’s, where he is head of stroke neurology.