Research Highlights

IBMFS In General

Alter BP et al, 2018. "Cancer in the National Cancer Institute inherited bone marrow failure syndrome cohort after fifteen years of follow-up" View in Pubmed.

2018

This study updated estimates of the types and risks of cancer associated with IBMFS. Continued follow-up will help identify effective methods for cancer prevention and surveillance in individuals with IBMFS.

Giri et al, 2017. "Pregnancies in patients with inherited bone marrow failure syndromes in the NCI cohort" View in Pubmed | Read the Article

2017

Women with any IBMFS experience higher rates of complications during pregnancy, including increased premature births and C-sections. Their pregnancies should be considered high-risk and would benefit from the care of a multidisciplinary team of maternal-fetal specialists with experience in bone marrow failure disorders.

Shankar et al, 2017. "Bone mineral density in individuals with inherited bone marrow failure syndromes" View in Pubmed | Read the Article

2017

Adults and children with IBMFS often have low bone mineral density. Prompt recognition of risk factors (including hypogonadism, iron overload, and glucocorticoid use) and management are essential to optimize bone health.

Fanconi Anemia

Alter et al, 2018. "Serum alpha fetoprotein levels in Fanconi anaemia" View in Pubmed

2018

This study discovered novel pathogenic genetic variants in people with DBA and provided additional information about known genetic causes of DBA. Ongoing studies of DBA genomics will be important to understand this complex disorder.

DC

Ward et al, 2018. "Beyond the triad: Inheritance, mucocutaneous phenotype, and mortality in a cohort of individuals with dyskeratosis congenita" View in Pubmed | Read the ArticleExternal Web Site Policy

2018

Individuals with more skin, nail and mouth complications of DC were more likely to have certain genes affected and more medical complications. Careful detection of all mucocutaneous features of DC is important for early referral, confirmatory testing, and appropriate clinical management.

Khincha et al, 2018. "Similar telomere attrition rates in androgen treated and untreated individuals with dyskeratosis congenita" View in Pubmed | Read the Article

2018

Telomere length shortens with age in individuals with DC, irrespective of treatment with androgens. Prospective long-term research is needed to understand the other effects of androgens for management of telomere biology disorders. Caution is warranted when recommending androgen therapy for non-bone marrow failure manifestations of DC and other telomere biology disorders until these effects are better understood.

DBA

Mirabello et al, 2017. "Novel and known ribosomal causes of Diamond Blackfan anaemia identified through comprehensive genomic characterization." View in Pubmed

2017

This study discovered novel pathogenic genetic variants in people with DBA and provided additional information about known genetic causes of DBA. Ongoing studies of DBA genomics will be important to understand this complex disorder.

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How can I join?

Individuals with one of the inherited bone marrow failure syndromes and their family members are encouraged to participate.

Phone: 1-800-518-8474 to speak with the referral nurse
Email: NCI.IBMFS@westat.com