May 22, 2017
4 min read

National repository offers ‘endless’ potential for hemophilia research

You've successfully added to your alerts. You will receive an email when new content is published.

Click Here to Manage Email Alerts

We were unable to process your request. Please try again later. If you continue to have this issue please contact

A new national research repository has been created to advance the understanding of hemophilia.

My Life, Our Future Research Repository — created by Bloodworks Northwest in collaboration with the American Thrombosis and Hemostasis Network, Bioverativ Inc. and the National Hemophilia Foundation — includes genetic data and blood samples from more than 6,500 Americans with hemophilia.

Barbara A. Konkle

“Hemophilia is a complex disorder and, [until now], there was no genetic and phenotypic database of this scale aiding scientific innovation,” Barbara A. Konkle, MD, associate chief scientific officer of Bloodworks Northwest and principal investigator for My Life, Our Future, said in a press release. “Researchers now have one source for the genetic data, repository samples and clinical data needed to investigate the many unanswered questions about hemophilia.”

HemOnc Today spoke with Konkle about how the research repository came about, the types of data available, and the value she expects this information will have for the scientific community.

Question: How did repository come about?

Answer: The patient genotype — the DNA variant that is responsible for hemophilia — is important in terms of manifestations of the disease, and in terms of understanding the risks that a person will form an antibody against factor replacement treatment. Also, because hemophilia is a rare disease, you must gather samples from many patients to answer questions about the disorder. When this started in 2012, only about 20% of people with hemophilia in the United States had been genotyped. Two surveys confirmed this primarily was because of a lack of insurance coverage and availability, so there appeared to be a real need in the community. We already had a clinical database, managed by the American Thrombosis and Hemostasis Network, so the opportunity was to develop the genotyping database and — at the same time — develop a research repository that would include DNA results and other biological samples to pair with clinical or phenotypic data. This would be very powerful to allow for scientific discovery.

Q: How much scientific data does the repository offer?

A: The repository includes Factor VIII and Factor IX sequence data, DNA, RNA, serum and plasma from more than 6,500 individuals. In addition, our cohort was accepted into the NIH TOPMed program. By being accepted into this program, approximately 5,000 samples in the repository will undergo whole-genome sequencing, and these data will be available through the NIH Database of Genotypes and Phenotypes. Scientists will be able to have access to the phenotypic data soon.


Q : What do you intend to build on these data?

A: We hope that scientists will come up with research questions that we have not thought about; that is the value of having a research repository and having it open for good scientific investigations. When we envisioned the potential of the repository, we wanted to have sufficient data, numbers and samples for the scientific community to answer difficult questions related to hemophilia. We look forward to seeing what the database will be used for.

The major complication with treatment — specifically for severe hemophilia A — is the development of neutralizing antibodies to Factor VIII, known as inhibitors. About one-third of boys with severe hemophilia will develop an inhibitor when they start treatment. Some of these patients will require additional treatment to get rid of the inhibitor. We know some things that influence this, but we do not know how to predict who will get an inhibitor and how to modify treatment to make outcomes better. We hope for good research on inhibitors through this repository.

There also are questions about bleeding severity, which generally goes by the level of factor that the patient has. However, we know there are patients with severe hemophilia who do not have measurable factor and do not bleed as much as other people with hemophilia, so there have to be other genes that are regulating that severity. Knowing this can impact how we treat patients with hemophilia. It also will help us understand the general population’s bleeding and thrombotic risk and, thus, have implications for other disorders.

Q: What is the application process like for clinicians?

A: The application process is outlined on The My Life, Our Future research review committee is reviewing applications, and they will be selected and announced in the summer. This is our first year calling for applications, so we are limiting them to U.S.–based investigators. This will help us gauge the interest we have, and it also recognizes that it is the U.S. hemophilia treatment centers and patients that provided these samples. Our plan for next year’s application is to broaden internationally.


Q: Who do you hope will access and analyze the data?

A: My hope is that many researchers will want to access the data. We do not have funding for the analysis part of the studies, so we hope we will have applications from individuals who have the funds to perform the studies. If an application is approved and that researcher is applying for an NIH-grant, we will quarantine those samples for that person until he or she knows whether they will obtain the grant.

Q: What can researchers ultimately do with this information?

A: They can answer important questions about hemophilia and potentially other bleeding disorders. The other possibility — as we understand factors in immune regulation that relate to inhibitors and factors in modulating bleeding symptoms — is that these findings may lead to new therapies that can target one of these genes outside of the Factor VIII and Factor IX genes, where we can affect either the development of complications of treatment or how the treatment manifests.

Q: Is there anything else that you would like to mention for our readers?

A: I would like to recognize the role of the hemophilia treatment centers across the country that participated in My Life, Our Future, as well as the clinical insight they have in hemophilia. We have encouraged scientists who are not affiliated with a hemophilia treatment center to do so when applying, and that will be a priority in the application review. The most important thing is that we want great science, and we want research projects to clinically relate to our patients. We want to bring those groups together. The potential of the My Life, Our Future Research Repository is endless. – by Jennifer Southall

For more information:

Barbara A. Konkle, MD, can be reached at Bloodworks Northwest, 921 Terry Ave., Seattle, WA 98104; email:

Disclosure: Konkle reports no relevant financial disclosures.