This page is dedicated to the Diamond-Blackfan Anemia research study, one of 57 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

The Diamond-Blackfan Anemia research study was established at Boston Children’s in 2024 and is led by Drs. Timothy Yu and Abdulrahman Aldeeri. 

Disease Information

Diamond-Blackfan anemia (DBA) is a rare, genetic blood disorder that occurs when the bone marrow fails to make red blood cells, which are essential for carrying oxygen from the lungs to all the other parts of the body. Individuals with DBA may also have craniofacial, upper limb, and genitourinary differences, as well as heart defects and growth deficiency.

It is estimated that 40-45% of individuals with autosomal dominant DBA have inherited the condition from a parent. 55-60% of these individuals have a “new” genetic change that is not passed down from a parent. Learn more about DBA.

Genes Related to DBA

ADA2 EPO GATA1 RPL11 RPL15 RPL18 RPL26 RPL27 RPL35 RPL35A RPL5 RPL9 RPS10 RPS17 RPS19 RPS24 RPS26 RPS27 RPS29 RPS7 RPSA

Participate in Research

Physicians may refer their patients with diagnoses of DBA to Drs. Yu and Aldeeri. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about Dr. Yu’s studies, including the DBA study, on the Yu Lab webpage.

Patient Care

Patients and their families with DBA can be seen by an expert multidisciplinary team in the  Bone Marrow Failure and Myelodysplastic Syndrome Program at Boston Children’s. Learn more about  DBA.

Investigators

Divisions

Notable Publications by Investigators

  1. RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront

  2. How to pay for individualized genetic medicines.

  3. N-of-1 Studies in an Era of Precision Medicine.

  4. Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease.

Disease Support Organizations

Diamond Blackfan Anemia Foundation

The Diamond Blackfan Anemia Foundation has adopted the following mission statement: “to advance research initiatives that promote a better understanding, therapeutic strategies, and a cure for this rare bone marrow failure syndrome. We are dedicated to patient advocacy and providing support and education services to individuals, families, and medical professionals resulting in improvements in the diagnosis, clinical treatment, and management of the disorder, while enhancing the quality of life of affected families worldwide.”

Friends of DBA

Friends of DBA exists to provide DBA families with education when necessary and to financially assist DBA families in crisis.

Diamond Blackfan Anemia Canada

Diamond Blackfan Anemia Canada is a nonprofit organization dedicated to supporting individuals and families affected by Diamond Blackfan Anemia through research funding, awareness, and patient advocacy.

DBA-UK

DBA-UK is a nonprofit organization that provides support, information, and advocacy for individuals and families affected by Diamond Blackfan Anemia in the UK while promoting research into the condition.

Trusted Sites

NORD Report