Genome sequencing of thousands of patients with rare blood disorders

Approximately 3M people have a rare bleeding disorder or disease of platelets, which are the cell fragments that help blood clot. The genetic causes of dozens of such disorders are known (e.g. haemophilia), but there are many others yet to be discovered. Because platelets have a role in heart attacks and stroke, they are involved in one in three deaths in the general population and a better understanding of rare platelet diseases may bring benefits to the care of the millions of patients with these common life-threatening events.

Researchers supported by the NIHR-BioResource Rare Diseases (UK) with collaborators worldwide are sequencing the whole genomes of thousands of patients without a genetic diagnosis and collating their clinical information in a research database. Through computational analysis of this information, we are searching for commonalities between patients who also share similar genetic changes to identify new causes of disease and better understand disorders already known to us.

So far, we have found a new genetic link between very large platelets and deafness, a genetic change in a well-known cancer gene responsible for fragile bones, scarring of the bone marrow and low platelet count, and a further genetic link between large platelets and heart rhythm problems. Within months of publication, these and other research findings are already benefiting patients through a new cheap, fast and accurate test (thrombogenomics.org.uk) available to patients in the UK and other countries.

Presenter: Dr Ernest Turro

Affiliation: University of Cambridge, Cambridge, UK

Topic: IDENTIFYING THE GENETIC BASIS OF RARE BLEEDING AND PLATELET DISORDERS USING SYSTEMATIC PHENOTYPING AND GENOME SEQUENCING

Abstract S518 will be presented by Ernest Turro on Saturday, June 11, 2016, 16:30 - 16:45 in Room H4.

About the EHA Annual Congress

Hematology is a specialty that covers everything to do with blood: its origin in the bone marrow, diseases of blood and their treatments. The latest data on research and developments will be presented. The topics range from stem cell physiology and development, to leukemia, lymphoma, myeloma - diagnosis and treatment; red blood cells -, white blood cells- and platelet disorders; thrombosis and bleeding disorders.

Contact

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E-mail: communication@ehaweb.org

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Last Updated on Tuesday 05 June 2018.