The Bloom Syndrome Foundation is established to fund research aiming at the development of a therapy for Bloom’s syndrome and the prevention of its complications, primarily the significant risk of developing cancers at early ages. Blooms syndrome is a very rare inherited genetic disorder. Because it is so seldom found, research labs and pharmaceutical corporations are not interested to investigate this syndrome or the complications of it. A patient with this disorder however, doesnt care about this seldomness.
At the beginning of 2006 a lab was set up at the Ohio University Comprehensive Cancer Center (US) to do research on Bloom syndrome. This research is initiated and funded by the Bloom’s Syndrome Foundation. The first steps on the research path have been made. This is very encouraging, but these are only the first steps. In behalf of all the patients of Bloom syndrome, new steps have to be made. To support this research, The Bloom Syndrome Foundation wants to collect funds. For this, we need your help. You can make a difference. Your donation can make miracles happen, as:
… A healthy child has many wishes, a sick child only one…
Useful Links
Het Bloom-syndroom
Tijdig de diagnose stellen voordat groeihormoontherapie wordt overwogenHet Bloom-syndroom (BS) is een zeldzame DNA-reparatiestoornis. Dit beeld kan op jonge leeftijd herkend worden aan de hand van de meest kenmerkende symptomen: pre- en postnatale groeiachterstand en...
Lees meerA Challenging diagnosis
Bloom Syndrome in Short Children Born Small for Gestational Age: A Challenging Diagnosis Background: GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is...
Lees meerRecommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders
Abstract DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal- recessive manner, but...
Lees meerImmunodeficiency in Bloom’s Syndrome
Abstract Bloom’s syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLMgene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially important for the development and maturation of the T and B...
Lees meer
News
Het Bloom-syndroom
Tijdig de diagnose stellen voordat groeihormoontherapie wordt overwogenHet Bloom-syndroom (BS) is een zeldzame DNA-reparatiestoornis. Dit beeld kan op jonge leeftijd herkend worden aan de hand van de meest kenmerkende symptomen: pre- en postnatale groeiachterstand en...
Lees meerA Challenging diagnosis
Bloom Syndrome in Short Children Born Small for Gestational Age: A Challenging Diagnosis Background: GH treatment has become a frequently applied growth-promoting therapy in short children born small for gestational age (SGA). In some disorders GH treatment is...
Lees meerRecommendations for Childhood Cancer Screening and Surveillance in DNA Repair Disorders
Abstract DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in genes encoding proteins key in DNA replication and/or the cellular response to DNA damage. The majority of these syndromes are inherited in an autosomal- recessive manner, but...
Lees meerImmunodeficiency in Bloom’s Syndrome
Abstract Bloom’s syndrome (BS) is an autosomal recessive disease, caused by mutations in the BLMgene. This gene codes for BLM protein, which is a helicase involved in DNA repair. DNA repair is especially important for the development and maturation of the T and B...
Lees meerContact
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Stichting Bloom Syndrome
Nistelrode, The Netherlands
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in the name of Stichting Bloom Syndrome, Nistelrode
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