Fanconi Anemia Research Fund

Lynn and Dave Frohnmayer
with their daughter Amy in 2012

When Dave and Lynn Frohnmayer of Eugene, Oregon founded the Fanconi Anemia Research Fund, in 1989, little was known about Fanconi Anemia and few scientists were studying it. Three of the Frohnmayers' five children had been diagnosed with this rare genetic disease and they were looking for answers. They created the nonprofit Fanconi Anemia Research Fund to find effective treatments and a cure for Fanconi Anemia, and to provide education and support services to affected families worldwide.

Fanconi Anemia (FA) is a rare genetic disorder. Although considered primarily a blood disease, FA may affect all systems of the body. In the U.S., FA affects approximately one child out of 131,000 births each year. At least 25% of FA patients are born with abnormalities of the hands or arms. The current median lifespan is 24.7 years, with some patients living into their 30s, 40s, and 50s. Most FA patients develop bone marrow failure in childhood, and require a stem cell transplant. All FA patients are at an elevated risk of developing squamous cell carcinomas and other cancers. Moreover, these cancers can occur decades earlier than in the general population, and risk increases exponentially throughout the lifespan.

Due to the tireless efforts of the Frohnmayers, a core group of researchers, and some dedicated parents, the Fund soon found a foothold in the scientific community and interest in FA research emerged. Since its inception, the Fund has convened annual scientific symposia, inviting scientists and clinicians from around the globe. In 2011, the Fund's 23rd Annual Scientific Symposium was held in Barcelona, Spain and was attended by 300 researchers. Focused meetings on gene therapy and squamous cell carcinoma have also been held - all with the intention of enhancing treatment options and quality of life for FA patients.

The Fund developed the document Fanconi Anemia: Guidelines for Diagnosis and Management and provides this publication to clinicians and families at no charge. Family support is offered through newsletter publications, family support meetings, meetings for adults with FA, and a secure on-line forum.

To date, the Fanconi Anemia Research Fund has sponsored more than $14 million in research grants at 151 laboratories around the world. Fifteen genes involved in FA have been identified, five of which are also breast cancer susceptibility genes. Research supported by the Fund has resulted in significant improvements in bone marrow transplant survival rates for FA patients. Currently sponsored research projects include a gene therapy protocol for patients who do not have a donor for a stem cell transplant, and the development of an oral patch to help deliver medication to pre-cancerous areas in the mouth.

To learn more about Fanconi Anemia, or to contribute to the Fanconi Anemia Research Fund, please visit fanconi.org.

Amy Frohnmayer and Pauline Thaler of the Fanconi Anemia Research Fund prepared this report. The Frohnmayer family has dealt with Fanconi Anemia since their oldest child was diagnosed with the disease in 1983, before Amy's birth. It turned out that their three daughters have the disease but their two sons do not. Katie Frohnmayer died in 1991 at age 12. Kirsten Frohnmayer died in 1997, two years after a stem cell transplant, and two years after getting her bachelor's degree from Stanford. Amy, now 25, is currently in stable health. She worked for the past two years as a research assistant for the Adolescent & Young Adult Oncology program at Oregon Health & Science University. She currently plans to pursue a doctoral degree in clinical psychology.