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Study identifies new gene mutation associated with defective DNA repair and Fanconi anemia
(JCI Journals) Fanconi anemia is a rare genetic disease characterized by hematologic symptoms and high cancer risk. Mutations in nearly 20 different genes have been identified in patients with Fanconi anemia. In a study published this week in the JCI, work from Detlev Schinder's group at the University of Wurzburg reveals a new Fanconi anemia gene, RFWD3, that is involved in complex DNA repair processes and may also play a relevant role in cancer risk. (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - July 10, 2017 Category: Cancer & Oncology Source Type: news

What Causes Anemia?
Discussion One of the most common problems in pediatrics is anemia. It is defined as “a lower than normal value for the related measurements of hemoglobin, hematocrit, and number of red blood cells”, usually 2 standard deviations below the normal for age. Normal hematological values change with age. For a discussion of which values are used click here. The most common type of anemia in childhood is iron deficiency which is commonly caused by inadequate stores (e.g. premature infant), inadequate intake (e.g. poor nutrition) or blood loss (e.g. menses). Anemia screening is recommended at age 9-12 months, and for...
Source: PediatricEducation.org - May 15, 2017 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

URI scientist: Rare childhood disease linked to major cancer gene
(University of Rhode Island) A team of researchers led by a University of Rhode Island scientist has discovered an important molecular link between a rare childhood genetic disease, Fanconi anemia, and a major cancer gene called PTEN. The discovery improves the understanding of the molecular basis of Fanconi anemia and could lead to improved treatment outcomes for some cancer patients. (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - December 1, 2016 Category: Cancer & Oncology Source Type: news

New function of genes found linked to Fanconi anemia and certain types of cancer
An important new function of genes in the Fanconi anemia pathway has been identified by researchers – a finding that could have implications for development of new therapies to treat this disorder and some cancers. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - May 3, 2016 Category: Science Source Type: news

UTSW identifies new function of genes linked to Fanconi anemia and certain types of cancer
(UT Southwestern Medical Center) Researchers from UT Southwestern Medical Center have identified an important new function of genes in the Fanconi anemia pathway -- a finding that could have implications for development of new therapies to treat this disorder and some cancers. (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - May 2, 2016 Category: Cancer & Oncology Source Type: news

What Are Common Causes of Congenital Aplastic Anemia?
Discussion Aplastic anemia are disorders where there is inadequate production of erythrocytes, granulocytes and platelets caused by decreased bone marrow production leading to a peripheral blood pancytopenia. Most often it is acquired because of exposures to infections (especially viruses such as Epstein-Barr virus, rubella, herpes, etc.), drugs (e.g. chloramphenicol, chemotherapeutic agents, etc.), toxins or radiation. Learning Point The most common congenital bone marrow failure syndromes causing pancytopenia are (in this order) Fanconi anemia, Diamond-Blackfan anemia, and Shwachman-Diamond anemia. Most have a variety of...
Source: PediatricEducation.org - April 17, 2016 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Phil and Penny Knight pledge $10M for medical research in honor of David Frohnmayer
Phil and Penny Knight on Wednesday pledge $10 million to the David Frohnmayer Scientific Research Fund, according to a report in the Register-Guard. The fund is part of the Fanconi Anemia Research Fund. Frohnmayer, a former University of Oregon president, died in May. He and Knight had a very public spat in 2000, but eventually mended fences. The Knights pledge is part of a $20 million campaign, according to the Register-Guard report. Two of the three daughters of Lynn and Dave Frohnmayer died… (Source: bizjournals.com Health Care:Biotechnology headlines)
Source: bizjournals.com Health Care:Biotechnology headlines - April 6, 2016 Category: Biotechnology Authors: Matthew Kish Source Type: news

Phil and Penny Knight pledge $10M for medical research in honor of David Frohnmayer
Phil and Penny Knight on Wednesday pledge $10 million to the David Frohnmayer Scientific Research Fund, according to a report in the Register-Guard. The fund is part of the Fanconi Anemia Research Fund. Frohnmayer, a former University of Oregon president, died in May. He and Knight had a very public spat in 2000, but eventually mended fences. The Knights pledge is part of a $20 million campaign, according to the Register-Guard report. Two of the three daughters of Lynn and Dave Frohnmayer died… (Source: bizjournals.com Health Care:Pharmaceuticals headlines)
Source: bizjournals.com Health Care:Pharmaceuticals headlines - April 6, 2016 Category: Pharmaceuticals Authors: Matthew Kish Source Type: news

[This Week in Science] The real cause of cancer in Fanconi anemia
Author: Guy Riddihough (Source: ScienceNOW)
Source: ScienceNOW - February 19, 2016 Category: Science Authors: Guy Riddihough Tags: DNA Repair Source Type: news

Fanconi Anemia: Genetic disease breakthrough announced
A team of investigators has established the cause of a rare syndrome consistent with Fanconi Anemia, a chromosome instability disorder which is clinically typified by birth defects, bone marrow failure, leukemia, and susceptibility to solid tumors. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - January 12, 2016 Category: Science Source Type: news

Scientists identify molecule that appears to fuel deadly genetic illness
(Cincinnati Children's Hospital Medical Center) Researchers have identified a molecular target and experimental treatment strategy for DNA repair defects behind Fanconi anemia -- a complex genetic disorder responsible for birth anomalies, organ damage, anemia and cancer. The findings, published Jan. 12, 2016, in Stem Cell Reports, also create a bit of molecular intrigue. It involves how cells used in the study -- which still had the Fanconi anemia (FA) DNA repair defect -- were able to recover and grow normally after targeted treatment. (Source: EurekAlert! - Cancer)
Source: EurekAlert! - Cancer - January 12, 2016 Category: Cancer & Oncology Source Type: news

Mutations linked to genetic disorders shed light on a crucial DNA repair pathway
Researchers have identified two new genes in which mutations can interfere with a cell's ability to remove misplaced links between DNA strands, and, as a result, cause a rare genetic disorder known as Fanconi anemia. These discoveries offer new insight on a repair process critical to maintaining certain tissues and preventing cancer. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - August 8, 2015 Category: Science Source Type: news

Mutations linked to genetic disorders shed light on a crucial DNA repair pathway
Researchers have identified two new genes in which mutations can interfere with a cell's ability to remove misplaced links between DNA strands, and, as a result, cause a rare genetic disorder known as Fanconi anemia. These discoveries offer new insight on a repair process critical to maintaining certain tissues and preventing cancer. More » (Source: The Rockefeller University Newswire)
Source: The Rockefeller University Newswire - August 7, 2015 Category: Biomedical Science Authors: pubaff Tags: Science News Agata Smogorzewska cell division DNA repair Fanconi anemia interstrand crosslinks Laboratory of Genome Maintenance RAD51 UBE2T Source Type: news

Mutations linked to genetic disorders shed light on a crucial DNA repair pathway
(Rockefeller University) Researchers have identified two new genes in which mutations can interfere with a cell's ability to remove misplaced links between DNA strands, and, as a result, cause a rare genetic disorder known as Fanconi anemia. These discoveries offer new insight on a repair process critical to maintaining certain tissues and preventing cancer. (Source: EurekAlert! - Biology)
Source: EurekAlert! - Biology - August 7, 2015 Category: Biology Source Type: news

Revised Article-Fanconi Anemia
Fanconi anemia, or FA, is a rare, inherited blood disorder that leads to bone marrow failure. (Source: National Heart, Lung, and Blood Institute Health Topics)
Source: National Heart, Lung, and Blood Institute Health Topics - October 27, 2014 Category: Consumer Health News Source Type: news

Drug used for DNA repair defects could treat leukemia, other cancers more effectively
In this study, the research team also showed the link between the RUNX family genes and the pathway of a rare human congenital disease called Fanconi anemia for the first time. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - August 25, 2014 Category: Science Source Type: news

What Causes Proteinuria?
Discussion Proteinuria occurs relatively often in pediatric practice with 5-15% of school children having transient proteinuria, the most common cause. However, proteinuria can be a sign of kidney disease. Therefore, it is important to evaluate the proteinuria in light of the clinical situation. A good history and physical examination along with a full urinalysis and/or BUN and creatinine, or urine protein/creatinine ratio may be all that is necessary. Another patient with edema, hypertension or hematuria needs a fuller evaluation and treatment. Proteinuria is usually categorized into three groups to assist with evaluation...
Source: PediatricEducation.org - August 18, 2014 Category: Pediatrics Authors: pediatriceducationmin Tags: Uncategorized Source Type: news

Ready for a win against Fanconi Anemia
As Florida State gears up to play Auburn in the BCS National Championship Game, head coach Jimbo Fisher is fighting an even tougher opponent off the field in hopes of saving his son. (Source: CNN.com - Health)
Source: CNN.com - Health - January 2, 2014 Category: Consumer Health News Source Type: news

FSU coach's son battles rare blood disorder
You'd never guess from looking at Ethan Fisher that he has Fanconi Anemia, a rare blood disorder that may one day kill him. (Source: WDSU.com - Health)
Source: WDSU.com - Health - January 2, 2014 Category: Consumer Health News Source Type: news

Three Different Diseases Controlled By One Gene
An international research consortium led by the Universitat Autonoma de Barcelona (UAB), the CIBERER and the University of Wurzburg (Germany) has discovered a gene that can cause three totally different diseases, depending on how it is altered. The researchers, using next-generation massive ultrasequencing techniques, have sequenced the over 20,000 genes of a Fanconi anaemia patient's genome... (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - April 29, 2013 Category: Consumer Health News Tags: Blood / Hematology Source Type: news

Discovery of a gene that controls 3 different diseases
(Universitat Autonoma de Barcelona) A research consortium led by the Universitat Autònoma de Barcelona has identified a single gene, ERCC4, that can be involved in three human diseases depending on which type of mutation it presents: Fanconi anaemia, xeroderma pigmentosum, or a type of progeria. The consortium's findings add to existing knowledge of two DNA repair activities that are important in maintaining the stability of our genes and preventing cancer in the general population. (Source: EurekAlert! - Medicine and Health)
Source: EurekAlert! - Medicine and Health - April 25, 2013 Category: Global & Universal Source Type: news