Chief Scientific Officer

Amy L. Akers, PhD

The search for a cure of cavernous angioma is a large part of Angioma Alliance’s organizational mission, and is the driving force behind the creation of the Chief Scientific Officer position, which Amy is the first to fill. As Chief Scientific Officer, Amy is committed to facilitating cavernous angioma research by efficiently and effectively leveraging the resources of Angioma Alliance to drive research for a cure. Completing this objective involves a wide variety of projects including:

Major Responsibilities

Research Support, Recruitment & Patient Registry Management – Amy serves as the Angioma Alliance research liaison to all research groups in an unbiased way to support and recruit for current studies. 

In an effort to expedite study recruitment, Angioma Alliance launched the International Cavernous Angioma Patient Registry in 2010. This online communication tool is designed to identify and communicate with individuals who are interested in research participation. Amy was primarily responsible for developing the registry questionnaire and continues to serve as the registry coordinator

CCM DNA & Tissue Bank – The Angioma Alliance DNA & Tissue Bank aims to facilitate research by providing investigators with biological samples and clinical data sets. Amy is the principal investigator of this study. She is responsible for recruitment and enrollment, as well as advertisement and dispersal of materials to the research community. 

CCM Scientific Meeting – Amy is responsible for coordinating Angioma Alliance’s annual CCM Scientific Meeting. This conference is a venue for all stakeholders (researchers, clinicians, advocates, industry and government agencies) to assemble and for international researchers and clinicians to share latest CCM research data. It is the goal of Angioma Alliance to continue to host this annual series in an effort to facilitate scientific progress and drive research for a cure.

Communication Liaison – Communicating with the scientific and patient communities, the pharmaceutical industry as well as government regulatory and funding agencies is a priority for Angioma Alliance. Amy offers patient education through personal communications, presentations at family meetings, social media, newsletters and peer-reviewed publications. Amy is also charged with the task of interfacing with the National Institutes of Health’s program management to encourage continued prioritization and funding of cavernous angioma research, and with representatives from the pharmaceutical industry in an effort to initiate public-private partnerships that may lead to expedited drug development. 


Additional Current Projects

Genetic Testing Initiative – In 2015 Angioma Alliance launched a Genetic Testing Initiative to help families with the genetic form of CCM fundraise for and obtain clinical genetic testing. Amy has been involved with this project at many levels.

Clinical Care Guidelines & Clinical Centers of Excellence – Amy is currently leading a team including Angioma Alliance’s Scientific Advisory Board and invited experts to develop a publication on CCM Care and Clinical Guidelines. This document intends to provide informationt for the patient and medical communities, and to provide a framework for the extablishment of clinical centers.

Brain Vascular Malformations Consortium (BVMC) – The BVMC study project has recently been awarded another 5 years of funding from the National Institutes of Health. These rare disease consortiums are unique funding mechanisms, as they require patient advocate groups to participate as research partners. During the previous 5 year cycle, Amy serves as the patient representative for the CCM project. In the current cycle she has worked to include Angioma Alliance as a study site, her role has changed to principle invesitgator, and she is currently recrutiing participants who have known mutations in the CCM1 gene. For more informaiton, please contact Amy or visit: http://rarediseasesnetwork.epi.usf.edu/BVMC/


Amy’s achievements include: 


Previous Research Experience

Prior to joining Angioma Alliance as Chief Scientific Officer in 2009, Amy began her cavernous angioma research career at Duke University. At Duke she worked in the lab of distinguished geneticist and long-time Scientific Advisory Board member, Doug Marchuk, PhD. While in Dr. Marchuk’s lab, Amy focused on developing mouse models for cavernous angioma and on investigating the molecular nature of human brain lesion development. Her genetic studies succeeded in providing evidence that two genetic ‘hits’ are necessary for the genesis of familial cavernous angioma lesions. Prior to receiving her PhD from Duke’s University Program in Genetics & Genomics, Amy completed her undergraduate studies at Cornell University where she graduated Cum Laude with a degree in biological sciences.





 Last Updated: 03.18.16