Government Agencies


Centers for Disease Control and Prevention  (CDC)

As the nation’s health protection agency, CDC saves lives and protects people from health threats. The CDC mission is to promote health and quality of life by preventing and controlling disease, injury and disability. To accomplish their mission, CDC conducts critical science and provides health information that protects our nation against expensive and dangerous health threats, and responds when these arise.

The HHT Foundation, in partnership with the CDC, hosted "HHT Health Initiatives for the 21st Century" where over 50 of the medical industries top executives along with leaders of many professional organizations were invited to learn about HHT and how their involvement in the identification, screening, and management of the disease can impact the health and well-being of HHT patients worldwide. Since our conference in 2008, we have engaged in partnerships with hematologists, the National Society of Genetic Counselors, the American Dental Hygenists Association and the National School Nurses Association to design educational and outreach programs to increase HHT awareness in their communities.

In the 21st Century the CDC pledges to:

  • Tackle the biggest health problems causing death and disability for Americans
  • Put science and advanced technology into action to prevent disease
  • Promote healthy and safe behaviors, communities, and environment
  • Develop leaders and train the public health workforce
  • Bring new knowledge to individual health care and community health to save more lives and reduce waste


National Institutes of Health  (NIH)

NIH is the nation's medical research agency; supporting scientific studies that turn discovery into health. The goals of the agency are:

  • to foster fundamental creative discoveries, innovative research strategies, and their applications as a basis for ultimately protecting and improving health;
  • to develop, maintain, and renew scientific human and physical resources that will ensure the Nation's capability to prevent disease;
  • to expand the knowledge base in medical and associated sciences in order to enhance the Nation's economic well-being and ensure a continued high return on the public investment in research; and
  • to exemplify and promote the highest level of scientific integrity, public accountability, and social responsibility in the conduct of science.

In realizing these goals, the NIH provides leadership and direction to programs designed to improve the health of the Nation by conducting and supporting research in the causes, diagnosis, prevention, and cure of human diseases like HHT. HHT researchers have leveraged their HHT Foundation seed grant money to million dollar NIH grants, the HHT Foundation has been invited to participate in round table discussions through the Division of Blood Disorders, and the HHT Foundation is currently engaged in several NIH therapeutic and patient registry projects.

The HHT Foundation has a history with the some of the leaders of NIH -

Dr. Francis Collins, Director of NIH,  became involved with HHT in the 1980’s.  As a medical geneticist, he had patients with HHT and he thought that identifying the gene or genes responsible for HHT would be a crucial step toward better understanding and treatment of HHT and, perhaps, of other health problems.  Dr. Collins connected with Dr. Bruce Jacobson, Dr. Alan Guttmacher, and Dr. Douglas Marchuk to locate HHT families and begin the research process. Drs. Marchuk and Guttmacher teamed up to establish the HHT1 gene mapped to chromosome 9 and through the identification of other HHT families, they were able to find HHT1 (endoglin) and HHT2 (ALK1) genes. Both of these researchers are currently serving on the Foundation’s Global Research and Medical Advisory Board and are primary scientific resources and consultants to the Foundation on many CDC / NIH endeavors. In 2007, Dr. Collins reflected on the Medal of Freedom honor by saying, “. . . I have a special attachment to HHT. My hopes and dreams are joined with all of you as we work together towards a day where the understanding of the human genome allows this disease (HHT) to be much more effectively managed — dare I say, even cured."

Dr. Alan Guttmacher, Director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), is a highly regarded pediatrician and medical geneticist and he has served in a number of important leadership roles at the National Human Genome Research Institute. Dr. Guttmacher is a valued member of the HHT Global Research and Medical Advisory Board and a long time friend of the HHT Foundation. He received the HHT Foundation International Scientific Leadership Award in 2006. It was Dr. Guttmacher that, together with Doug Marchuk, Ph.D., found the first HHT gene.