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Jill de Jong, MD, PhD

Risk stratification for genetic causes of severe aplastic anemia
Original Research Center: 
University of Chicago Medicine
Pubmed Author Name: 
de Jong J
Current Position/Title: 
Instructor in Pediatrics

Aplastic anemia is a rare but serious blood disorder that occurs when the body’s bone marrow cannot produce enough healthy blood cells to function properly. Aplastic anemia can be classified as moderate, severe or very severe, depending on stability of blood cell count and other symptoms. Most cases of aplastic anemia are idiopathic, meaning the underlying cause is unknown. Aplastic anemia can be due to inherited (genetic) causes in a minority of cases. Although many patients with genetic causes of aplastic anemia will present with more moderate blood counts initially and may have a family history of blood disorders and other physical findings associated with these genetic disorders, some patients may not have any of these findings. It is not currently known how many patients who present suddenly with what appears idiopathic SAA may have an underlying genetic disorder.
At this time, it is not known how best to use genetic testing to identify patients with an inherited bone marrow failure syndrome (iBMFS) as the cause of aplastic anemia, and practices vary across providers and institutions. It is important to identify patients with inherited causes of SAA early since their treatment is different, but sending genetic testing on everyone can lead to long treatment delays which can be harmful. Therefore, additional studies are needed to determine which patients with SAA need genetic testing and which ones may not need genetic testing in order to optimize and tailor medical work-up and treatment.
We propose a multi-institutional study of children and young adults presenting with SAA. We will study patients’ medical records and run genetic testing to look for inherited causes of aplastic anemia to describe how often patients with SAA have an inherited disorder. We will describe which patients are at a higher risk of having such an inherited disorder and therefore which patients would benefit from undergoing genetic testing. As part of this research effort we may also be able to discover new genetic causes of aplastic anemia as well.

2019
Current Institution: 
University of Chicago Medicine

Jill de Jong, MD, PhD, treats children with all types of cancers and blood diseases, as well as hematopoietic stem cell transplant patients. She has specialized expertise in: hematology, including disorders of red blood cells, white blood cells and platelets; autoimmune blood diseases; bleeding and clotting disorders; and genetic (inherited) blood diseases.

Dr. de Jong's research focuses on understanding genetic syndromes that predispose patients to bone marrow failure and/or cancer. By studying known genetic mutations that lead to cancer and uncovering new cancer predisposition syndromes, her work examines the mechanisms that cause cancer in order to improve cancer therapies. Through her research, she aims to optimize early detection, treatment, and, ultimately, prevention of cancer and bone marrow disorders.

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