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We asked. You answered. We listened...

Results of our recent study are available!

We are excited to update everyone about the results of our Patient Perspective Study.  In this study, individuals enrolled in IFAR were invited to participate in an online questionnaire through Survey Monkey to help us learn more about the motivations for participation, the experiences with current services, and the needs going forward. We thank everyone who participated in the survey for their time and ideas. We couldn't do this work without you and want to do everything possible to maximize your benefits while in the IFAR. Please click here to download our newsletter with all of these results.



What is the IFAR?

The IFAR stands for the International Fanconi Anemia Registry.  It is a research study that began at Rockefeller University in New York City in 1982.  The purpose of the IFAR is to study the nature, diagnosis, and treatment of individuals with Fanconi anemia (FA).  We hope that information collected in this study will help researchers better understand FA and be able to better diagnose and treat the condition, which can then directly benefit individuals and families affected by FA.

History of the IFAR: Dr. Auerbach

The IFAR was founded in May 1982, by Dr. Arleen D.  Auerbach, in collaboration initially with Dr. Traute Schroeder-Kurth of Germany. Schroeder-Kurth, in 1964, discovered the chromosome instability in Fanconi anemia patients and Auerbach, in 1981, developed the DEB (diepoxybutane) chromosome breakage test.   From May 1982 until closing in December 2007, Auerbach’s Cytogenetics Laboratory at The Rockefeller Hospital was New York State licensed and CLIA-certified. The laboratory issued diagnostic reports on many patients from North America with clinical findings resembling FA.  Patients with a positive DEB test were eligible to participate in the IFAR study, resulting in the enrolling of a large number of patients with FA. Studies of IFAR patients led to the discovery that the clinical features of the syndrome were much more varied than originally thought, and to the recognition of the need for a more timely diagnosis of the disease.  The IFAR Tissue Repository of specimens from patients with a positive DEB test aided researchers over the years to identify new genes for FA, and to find a large spectrum of changes in these genes that caused the disease (see link to IFAR publications).  In 2011, Agata Smogorzewska, M.D., Ph.D. Head, Laboratory of Genome Maintenance at the Rockefeller University became the Principal Investigator of the IFAR, with Auerbach remaining as an Investigator on the IFAR protocol and Consultant to the Laboratory of Genome Maintenance.

What can we offer?

GC Pic Knowledge While we recognize that you and your family have become the experts in FA, our team is made up researchers engrossed in the FA world.  We are available to help answer questions you may have at any time.

Genetic Counseling We now have two genetic counselors on our team that can help answer questions you may have about the inheritance of FA, family members that may be at risk, and testing options available to you or your family.  Jennifer Kennedy can be reached at 212-327-8612 and Erica Sanborn can be reached at 212-327-8613.

Support We know what a hard journey this can be for families.  We want to take this journey with you as much as we can and support you through it. 

Connection If you are not in touch with other FA families and would like to be, we can help you get connected.

Up-to-date Information One reason we have created this website is to provide a resource for families.  Please check back often as we will update this page monthly with study information and other relevant FA news and resources

What information will participation in the IFAR provide? 

At this time, our laboratory, Laboratory of Genome Maintenance, headed by Agata Smogorzewska, MD, PhD is a research laboratory.  This means that the information we find cannot be directly released to your family or your doctor.  However, we strive to find the genetic cause of FA in every family that participates.  If we find what gene is causing the FA and/or what genetic changes/mutations are present we will work with you and your doctor to confirm the information so this information can be shared with you.  The clinical/confirmational testing is ordered by your doctor, will likely have a small cost associated, will require a new DNA sample, but can produce a report that can go in your (your child's) medical chart at your doctor's office and be used by other family members for carrier testing. This confirmational process of research results applies to all testing performed through our study from July, until the  present.  Before July, 2009, the IFAR maintained a clinical "CLIA-approved laboratory" at The Rockefeller University Hospital, certified by the New York State Department of Health, with Arleen D. Auerbach, PhD, FACMG, as Laboratory Director.  This means that findings from most mutation testing done before July, 2009 does not need to be confirmed.  Reports from testing before this time can be generated by Dr. Auerbach upon request, but must be sent to a health care professional.

Male child with FA                       Sisters with FA                       Adult male with FA

What is Fanconi anemia?     

Fanconi anemia (FA) is a genetic disease that occurs in approximately 1-2/100,000 live births. FA is a bone marrow failure syndrome.  In addition, major physical abnormalities occur in approximately two out of three cases. The types of birth defects and severity of birth defects vary greatly patient to patient.  Some of the more common physical abnormalities include: skin pigmentation (55%), short stature (51%), arms (43%), kidney (21%), ears, hearing (9%), heart and lungs (6%), and digestive system (5%). FA is also a cancer susceptibility syndrome.  Individuals with FA have an 800-fold risk to develop AML (or acute myeloid leukemia) and a 500-fold risk to develop solid tumors of the head, neck, genital, and anal regions compared to individuals without FA.

Genetics of Fanconi anemia:

geneOur genetic information, or DNA, is organized into chromosomes.  We each have 46 chromosomes, 23 that we got from our mom and 23 from our dad. On each chromosome we have thousands of genes.  In total, we all have about 25,000 different genes in our bodies.  We also have 2 copies of each gene, one from mom and one from dad.  Of these genes, 16 are known to be related to FA.  These genes are all on different chromosomes.  Karyotype Pic

Everyone has these 1 genes in their bodies, but the difference between individuals with and without FA is whether the genes are working properly.  When an individual has 2 non-working copies of the same FA gene, he/she is considered to have FA (shown in red below). When an individual has 1 working copy and 1 non-working copy of the same FA gene, he/she is considered to be a carrier (shown in purple below).  When an individual has 2 working copies of all of their FA genes, they are unaffected (shown in blue below). 

In most cases, FA is a recessive disorder. Most children with FA have 2 non-working copies of the same FA gene, one that they inherited from their mother and the other from their father.  The parents of children with FA are said to be carriers. Most carriers show no signs or symptoms of FA but are at increased risk to have a child with FA.  When both parents are carriers of a genetic change or mutation in the same FA gene, the have 3 possible outcomes in each future pregnancy.  There is a 25% chance to have an unaffected child; a 50% chance of having a carrier, making them similar to the parents themselves; and a 25% chance of having a child with FA.  AR PicWith each pregnancy, these risks are the exact same, regardless of what happened in a previous pregnancy.

The FA genes are designed by a letter of the alphabet.  The most common gene is FANCA and accounts for approximately 65% of cases.  FANCC and FANCG are the two next most common FA genes.  FANCB is the only gene to be inherited in a different way and affects mostly boys.  The other FA genes include: FANCD1, FANCD2, FANCE, FANCF FANCI, FANCJ, FANCL, FANCM, FANCN, FANCO, FANCP, and FANCQ. Gene Pie Chart

Of these 16 genes, 8 join together in what is called the "core complex".  These 8 genes include FANCA, FANCB, FANCC, FANCE, FANCF, FANCG, FANCL, and FANCM. There is also a second grouping among the FANCD2 and FANCI genes, which is called the "ID complex".

When parents are both carriers of different non-working FA genes, there is no increased risk to have a child with FA. However, members of their family, including their children would be at increased risk to be a carrier of FA, and therefore at increased risk to have a child affected by FA. For example, if a woman is a carrier of a mutation in FANCA and her partner is a carrier of a mutation of FANCC, the child would not have FA.  Along these lines, if two individuals with FA conceive a child together, we would only expect the child to have FA if both individuals had the same gene causing their FA.

Testing for Fanconi anemia:FA pathway

The testing for FA can be quite complicated. Testing can fall into different categories.

Within each category, testing can be either clinical or research.  Clinical testing is testing that is performed in a "CLIA-approved" laboratory. CLIA laboratories follow very specific laws and regulations.  By law, these clinical laboratories can produce a report with the results of the testing.  The primary goal in clinical testing is to gain information for the patient/family.  The benefits of clinical testing are that it is done much faster (and you can know how long it will take before the test is ordered) and it produces a report that can be shared with physicians and family members.  The limitation of clinical testing is that it can often be expensive and only a few labs may do the desired test.  This can be contrasted to research testing. Here at Rockefeller University we currently only do research testing.  By law, results from research testing cannot be shared with the patient/family and sometimes even the doctor.  If you want results from research testing, it has to first be confirmed in a clinical lab.  The primary goal in research testing is to learn more from a science standpoint and not necessarily to benefit the patient/family directly.  So why does anyone do research testing?  Sometimes, a test is only available in a research setting.  Other times, it saves money as all of the research testing is done for free and helps make the clinical testing more meaningful or informative. Lastly, the hope is that the research will help us understand FA better so that we can help the FA community as a whole in the future.  The downside of research testing is that it can take a long time and we cannot predict how long it might take.  You can pursue both research testing and clinical testing at the same time.

Each test described above has benefits and limitations. We have summarized some of those benefits and limitations in the table below.  The time it takes to get results and the cost are specific to each laboratory and are always changing.  This information is to give you a general estimate but actual time and costs may be higher or lower when the test is actually ordered.  It is important that the right test be ordered to ensure proper diagnosis and medical management. This testing can be very confusing to doctors and families alike.  We are always happy to speak with your/your child's doctor to help navigate this process if it would be beneficial.

Test Purpose of test
Approx time to get results
Approx Cost Cons/Limitations
Complementation  Identify the gene causing FA 3 Months-1 year $2500 for 3 genes -Requires cell line
-May require skin biopsy
-May not work for all patients
Targeted mutation analysis Determine if a known mutation is present or absent 1-3 Weeks $200 per mutation -Only helpful if the mutation is known in the family or someone is of a specific ethnic background
Gene sequencing Find variations/mutations in any single FA gene 2-4 Weeks $400- $1800 per gene -Can be costly and take a lot of time if complementation testing is not done first
-Cannot find deletions or duplications
Next generation sequencing Find variations/mutations in any FA gene at the same time 6-8 Weeks $3-4,000 total  -Cost
-Might get results that we don't know what they mean
-Cannot find deletions or duplications
Dosage testing (CGH/MLPA) Find any deletions (missing DNA) or duplications (extra DNA) in any FA gene 3-4 Weeks $800- $1500 total -Cannot find misspellings in the DNA



Thank you for your participation in the IFAR.  We could not do this study without you!But we still need your help!!!  At this time we have approximately 1265 families involved in the IFAR which is wonderful. However it makes keeping track of the most up to date information about each family difficult.  The research only works if the communication is two ways.  We want to help you but we also need your help. Here are some ways you could help us:

For families participating with us that have not yet received notification that we have research results available to move onto the next steps, we greatly appreciate your patience. We know this is a very long and often frustrating wait.  If at any point you are looking for an update or want to check in to see if any results are available please do not hesitate to contact Erica Sanborn or Jennifer Kennedy.  Please remember, if we have results, she will not be able to give you the details of the findings until they are confirmed in a clinical laboratory, but will update you about the status and next steps. 



Who can participate in the IFAR? As the name suggests, we are an international registry.  As such, any individual that has been diagnosed with FA, or has features similar to FA is able to participate.  In addition, we like to enroll family members of that individual when possible, as we know genetic testing is most informative when an affected individual and his/her parents are studied at the same time.

What is involved in participation in the IFAR? For all individuals with FA (or FA-like symptoms) in the IFAR we collect medical information and often a DNA sample (DNA is the genetic information in our bodies).  The medical information we collect is from medical professionals and family members, where appropriate.  If the genetic cause of FA is already known in your family, then we would not need a DNA sample in most cases.  When we do need a DNA sample, it is usually obtained through a blood draw but if a patient has already had a BMT or diagnostic testing for FA has showed different results, we often try to arrange a skin biopsy as well.  From the DNA sample we create a cell line which is a group of cells that can live and grow outside of the body.  They can be frozen and can be used for future research.  For family members of someone with FA or FA-like symptoms, we gather relevant medical history and also try to obtain a blood sample to have DNA for the testing. 

What are the benefits of participating in the IFAR?

What are the risks of participating in the IFAR? Dr. Boulad with male child

If I/my family is not already enrolled in the IFAR how do we get involved?






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