Research Highlights

The following highlights are listed in chronological order, beginning with the most recent.


BRCA1, the most common breast and ovarian cancer susceptibility gene, was identified as an FA gene. Five of the 18 FA genes, including BRCA2, are also breast and ovarian cancer susceptibility genes. Research on FA cancers has benefits that extend far beyond our small group of patients.

The Fund approved funding for a new clinical trial to test the ability of the small molecule N-acetyl cysteine (NAC) to improve blood cell counts in FA individuals. NAC is an anti-oxidant that has been shown to protect FA cells. The trials will be performed in the United States, Canada, Italy and Germany.

An adult with FA was treated with gene therapy at the Fred Hutchinson Cancer Research, Seattle, Washington. This was the first FA individual treated with the newly established and improved gene therapy protocol developed by the International FA Gene Therapy Working Group. The Fund co-sponsored the Group’s fifth meeting in Milan, Italy, attended by over 20 scientists and clinicians from Europe and the United States.

Aldea Pharmaceuticals’ Chief Financial Officer and Chief Medical Officer met with us to discuss development of a new drug to help detoxify aldehydes in FA individuals. FA blood cells have been shown to be extremely sensitive to aldehyde exposure. Scientists from Aldea presented their work at the Fund’s Scientific Symposium and hope to initiate a trial for FA individuals in 2015.

FA patients are at high risk of head and neck cancer. Over a 12-month period, an FA research team from Germany examined the oral cavities of 300 FA patients from the United States, Europe and South America, and took brush samples of suspicious lesions. Experts in Germany analyzed these samples in an effort to identify pre-cancer or cancer. Identification and treatment of early stage cancers gives the best chance of overcoming this deadly complication.

Francis Collins, MD, PhD, Director of the National Institutes of Health, gave an opening address at the 26th Annual Fanconi Anemia Scientific Symposium in Bethesda, Maryland. Dr. Collins praised the Fund’s efforts, saying that he was excited about the progress and the remarkable strides in FA research. He believes that the Fanconi Anemia Research Fund “has transformed the world it entered decades ago.”

More than 210 scientists and clinicians from 17 different countries attended our Bethesda Scientific Symposium and shared data, debated conclusions, and formed new collaborations. To encourage young scientists, a mentorship lunch was held with over 60 attendees. For the first time, a whole session at the Symposium was dedicated to FA clinical cases. Two new FA genes were identified: RAD51 and the breast/ovarian cancer susceptibility gene BRCA1, making a total of 18 different FA genes.

In 2014, the Fund awarded over $700,000 in new research grants to scientists and clinicians.

  • A group at The Rockefeller University is examining head and neck cancer samples from FA and non-FA individuals for different DNA mutations. The goal of this project is to determine if head and neck tumors from FA individuals have specific mutations that would make them sensitive to targeted drug therapy. This research could greatly improve the survival for both FA and non-FA head and neck cancer patients.
  • Scientists at the Dutch National Cancer Institute in Amsterdam are developing a new technology called “gene editing” to help correct blood cells from FA individuals. This technique facilitates correction of specific DNA mutation in FA genes.
  • To help identify new targets for drug therapy, a group at Fitzroy Institute, Melbourne, Australia, has been able to isolate all the FA proteins (made from genes) in a test tube and put them back together, just like a puzzle. Now they will test how loss of a specific FA protein alters the puzzle and look for drugs to substitute for the missing proteins to allow corrected reassembly.

The Fund also supported other ongoing research projects:

  • To help prevent toxic treatment side effects, a group at the University of Pittsburgh is testing the ability of a new drug to protect FA non-cancer cells, but kill cancer cells, during radiation.
  • A prominent scientist from Harvard University is testing small molecules to determine if they protect FA blood and bone marrow cells from DNA damage.
  • Scientists at the Forsyth Institute in Boston are measuring the types of microorganisms (bacteria, fungi, etc.) in the mouths of FA individuals to see if they contribute to head and neck cancer development.
  • Supplemental funding was given to a group at the University of Colorado Denver to further their investigation on the capacity of the natural compound resveratrol, found in red grapes, to destroy head and neck cancer cells from FA individuals.

Representatives from the Fund attended the annual meetings for the American Society of Hematologists and American Association for Cancer Research, in order to educate clinicians and scientists about FA and establish new clinical contacts.


December, 2013:Quercetin in People with Fanconi Anemia--Individuals interested in learning more about this important study at Cincinnati Children's Hospital Medical Center can contact Dr. Parinda Mehta at 513-636-5917, or toll-free in the US at 1-800-344-2462, extension 65917.


October, 2012: 2012 ASH Outstanding Service Award--David and Lynn Frohnmayer, co-founders of the Fanconi Anemia Research Fund, have been selected by the American Society of Hematology (ASH) as the recipients of the 2012 ASH Outstanding Service Award. The prestigious award is presented by ASH to recognize consummate leadership on issues of importance to hematology research and practice.

September, 2012: Highlights of the 24th Annual Fanconi Anemia Research Fund Scientific Symposium

July, 2012: GS-Nitroxide (JP4-039)/F15 Liposome Oral Radioprotective Therapy for FA Patients Requiring Chemoradiotherapy for HNSCC, Joel Greenberger, MD, University of Pittsburgh Cancer Institute

June, 2012: The Role of Human Papillomavirus in Fanconi Anemia, Melinda Butsch Kovacic, MPH, PhD, Cincinnati Children’s Hospital Medical Center. This is an important research opportunity for individuals with FA and their families.

May, 2012: Targeted Treatment of Oral Cancer and Precancer in FA Patients-- co-Principal Investigators are Ruud Brakenhoff, PhD, and Johan de Winter, PhD, from the Vrije University Medical Center in The Netherlands.

April, 2012: Brief Report: Patients With Fanconi Anemia and AML Have Different Cytogenetic Clones Than De Novo Cases of AML, by long-time FA researcher Blanche P. Alter, MD, MPH, FAAP and others.

March, 2012: Alan D. D'Andrea, MD, Receives the 52nd Annual AACR G.H.A. Clowes Memorial Award. View Dr. D'Andrea's Clowes Acceptance Speech.

February, 2012: Oral Cancer Biomarker Study, David Wong, DMD, DMSc, Principal Investigator

February, 2012: New FDA-regulated Gene Therapy Clinical Trial for Patients with Fanconi Anemia

February, 2012: Profile of Stephen Friend, who spoke to the Fanconi Anemia Research Fund's Board of Directors and Scientific Advisory Board at the 2012 Annual Planning Meeting.


November, 2011: Formaldehyde catabolism is essential in cells deficient for the Fanconi anemia DNA-repair pathway
This article, by FARF-funded researchers, Ivan Rosado and KJ Patel, suggests that human cells produce enough formaldehyde which would kill them if you could not either breakdown this reactive chemical or fix the damaged DNA that it causes by using the Fanconi anemia DNA repair pathway.  This might explain why people with FA experience the gradual reduction of germ and blood stem cells.

October, 2011: The Role of Fanconi Anemia/BRCA Genes in Zebrafish Sex Determination
The pilot study informing this research was funded by the Fanconi Anemia Research Fund, Inc.

September, 2011: Postoperative Clinical Radiosensitivity in Patients With Fanconi Anemia and Head and Neck Squamous Cell Carcinoma
This article is featured on the FARF website with permission from David Kutler, MD

Summer, 2011:  The Aplastic Anemia & MDS International Foundation's Insider newsletter reports that two FA researchers, Kim-Hien T. Dao, DO, PhD and Parinda Mehta, MD have received research grants.

May, 2011: Stem Cell Gene Therapy for Fanconi Anemia: Report from the 1st International Fanconi Anemia Gene Therapy Working Group Meeting


October, 2010: An Overview of the 22nd Annual Fanconi Anemia Research Fund Scientific Symposium

July, 2010: National Institutes of Health Grant Expands 15-Year Effort Initiated by Fanconi Anemia Research Fund

April, 2010: Researchers Discover a 14th Gene Linked to FA

of note

Now accepting applications for the $5,000 Amy Winn & Christopher Byrd Award for Adults with FA learn more...

The first Joel Walker Scientific Focus Meeting has been announced learn more...

FARF Receives Grant to Expand Development Program learn more...

Aileen Carlos, Portland-based lawyer, joins the Board of Directors learn more...