Dec 3, 2020


As we are learning across the entire field of medicine, critical insights helping us address challenging rare diseases lie undiscovered deep within the genetic code. With the advent of new technologies, increasingly sophisticated data tools and a sharpened understanding of ‘omics (a term encompassing modern areas of study to better understand diseases, including genomics, proteomics, and metabolomics), we are better equipped than ever to advance discoveries that could dramatically impact patient care.


This is particularly true in the bleeding disorders community, where we are on the cusp of transforming how we approach these inherited conditions thanks to a multi-year collaborative effort called My Life, Our Future (MLOF). Working together with hemophilia treatment centers across the country,  MLOF  provided hemophilia genotype analysis for patients in the United States, resulting in the creation of the largest research repository of genetic information on hemophilia in the world.


Important insights from MLOF Research Repository will be presented this weekend during the 2020 virtual Annual Meeting of the American Society of Hematology (ASH). This will include the first full analysis of the complete dataset from more than 11,000 patients. This analysis, illustrating the genetic variability in hemophilia, compels the research community to look closer at this condition, as we clearly have a long way to go to understand hemophilia and why it affects individuals in such drastically different ways.


In addition to the overview of the project results, the first data will be presented from a research program using the MLOF Research Repository to understand genetic drivers for low factor levels in female genetic carriers. This is particularly important because female carriers of hemophilia may carry an increased risk of bleeding, but care strategies are inadequate due to limited information explaining the risk profile of this population.


We encourage our colleagues and peers to attend these and other important sessions during the virtual ASH meeting this weekend. The availability of this broad and diverse repository of genetic information on hemophilia means we may be able to derive answers not previously possible to critical questions about the science of bleeding disorders. With these answers, the potential impact to individuals with bleeding disorders and their families is immeasurable.


So much more remains to be uncovered from the MLOF Research Repository. This is why the MLOF partners have announced a new call for proposals for access to the Research Repository. Interested investigators must apply for access to the Research Repository by submitting a Pre-Proposal to ATHN no later than January 15, 2021. For more information, visit https://athn.org/what-we-do/national-projects/mlof-research-repository.html