Most Loved Workplace® Certified JobTax Intern, Core Tax Services - Winter 2027
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Fanconi anemia (FA) is a rare genetic disease caused by mutations in any of the known 23 genes that play a role in the FA DNA repair pathway. Dysfunctional DNA repair in all cells of the body means that people living with FA have a very high risk of developing bone marrow failure and cancer in addition to many other systemic issues. FA affects both males and females equally and is found in all ethnic groups. FA is a cancer-susceptibility disease with broader implications for cancer research and treatment. Individuals with the disease have an extremely high risk of developing cancer at a young age. FA is typically diagnosed before children are 12 years old, but in some cases, no symptoms are present until adulthood. People with FA are usually smaller than average and may feel extreme fatigue and have frequent infections. Comprehensive FA care clinics host interdisciplinary teams that have experience with treating all aspects of the disease. Bone marrow failure is one of the most common and serious complications of FA. People with FA may require regular blood transfusions and eventually an allogeneic hematopoietic stem cell transplant (HSCT) to treat the bone marrow failure. Advanced age for people with FA has revealed more FA-related issues, with cancer being a major problem. Surgery is the best option for cancer treatment, while radiation and chemotherapy can be used in advanced cases.
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Requirements
- FA is caused by a mutation in one of the 23 known FA genes.
- People with FA have an extremely high risk of developing several types of cancer at a young age.
- FA affects both males and females equally and is found in all ethnic groups.
- FA may be evident at birth through physical manifestations such as hand and arm anomalies, skeletal anomalies, and skin discoloration.
- FA may cause low birth weight, developmental disabilities, and defects in tissues separating chambers of the heart.
- Bone marrow failure is a common and serious complication of FA.
- Patients may require regular blood transfusions and allogeneic hematopoietic stem cell transplants to treat bone marrow failure.
- FA is typically diagnosed before children are 12 years old, but sometimes there are no symptoms until adulthood.
- Nosebleeds or easy bruising may be a first sign of the disease, and blood tests can reveal abnormalities.
- Comprehensive care clinics specific to FA are recommended for patients whenever possible.
- FA may affect multiple systems of the body, and treatment may involve addressing issues such as hematologic, endocrine, and gynecological or dermatological problems, as well as hearing difficulties and increased risk of solid tumors.
Benefits
- Comprehensive FA care clinics host interdisciplinary teams that have experience with treating all aspects of the disease.
- Bone marrow transplant success rates for FA patients with a matched unrelated donor have risen significantly.
- Matched sibling donor transplants have a high success rate today in specialized centers.
- Haploidentical transplants for people with FA are seeing increased success.
- Research into FA gene discovery and HSCTs led to pivotal advancements in treating bone marrow failure.
- Thanks to research, kids with FA now live longer and are reaching adulthood.
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