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TGF-β pathway inhibitors for the treatment of bone marrow failure in Fanconi anemia

2017 | Research Grant | Alan D’Andrea

Fanconi anemia (FA) patients suffer from progressive bone marrow failure due to the defective hematopoietic stem cells (HSCs) in their bone marrow. The mechanisms of why the HSCs in FA patients are defective remain elusive. Recent studies suggest that DNA damage induced by physiological stress or al…

The prevention of DNA damage in Fanconi anemia HSC by ALDH activators

2017 | Research Grant | Daria Mochly-Rosen, Kenneth Weinberg

The cause of injury and loss of blood-forming stem cells (Hematopoietic Stem Cells, HSC) in Fanconi anemia is due to abnormal repair of a specific type of DNA damage in which two DNA strands get permanently knotted to each other. This type of injury probably occurs frequently but is normally repaire…

Use of triplex-forming PNAs as a strategy for correction of the FA phenotype

2017 | Research Grant | Peter Glazer, Gary Kupfer

As a monogenic blood disorder with potential survival disadvantage, Fanconi anemia has long been considered an attractive target for conventional gene therapy but success has been elusive. Consequently, there has been increasing interest in developing techniques to catalyze correction of the disease…

A Training Grant for Development of a Fanconi Anemia Cohort in Mexico

2016 | Research Grant | Blanche P. Alter

This is a training grant for a medical geneticist from Mexico City, who will develop a registry and subsequently a cohort of patients with FA who reside in Mexico. The project addresses one of the research priorities of the FARF:

Cancer in Heterozygote Carriers of Fanconi Anemia

2016 | Research Grant | Blanche P. Alter

Fanconi anemia increases the risk of cancer as individuals' age. This is likely due to defects in the Fanconi DNA repair pathway that lead to the formation of rare cancer-causing mutations. Fanconi anemia individuals are defective in both copies of a Fanconi gene (one from mom and one from dad) and …

Detection and characterization of ubiquitinated FANCD2 and FANCI

2016 | Research Grant | Andrew Deans

Fanconi anemia is caused by mutations in number of genes involved in DNA repair. Two key players are genes called FANCD2 and FANCI. These genes serve as central regulators of the Fanconi DNA repair pathway. Dr. Deans and others have shown that regulation occurs through the addition or removal of a m…

Drug screening and repurposing in Fanconi anemia therapeutics (acronym: REPAIR-FANC)

2016 | Research Grant | Jordi Surralles

In the field of rare diseases it is extremely difficult to perform clinical trials with new chemical entities without prior information on bioavailability, dose and safety in humans. Drug repurposing is the application of known drugs and compounds to new indications. Thus, the aim of this project is…

How environment shapes the consequences of mutation within the Fanconi anemia pathway

2016 | Research Grant | Georgios Karras, Harvey Lodish

It has long been recognized that gene-environment interactions influence the clinical course of individuals with FA, yet the underlying mechanisms remain elusive. Drawing on this labs deep expertise in protein folding diseases this project proposes a pragmatic approach to address this issue which ca…

Investigating the impact of lentiviral transduction on Fanconi anemia hematopoietic stem cells for improved gene therapy

2016 | Research Grant | Anna Kajaste-Rudnitski

Many have proposed that lentiviral vector (LV)-mediated hematopoietic stem cell (HSC) gene therapy may constitute a new safe and efficient approach for the treatment/prevention of the bone marrow failure (BMF) characteristic of FA patients. To further improve the possibilities of developing a safe a…

Reducing the burden of squamous cell carcinoma in Fanconi anemia - 2016

2016 | Service Grant | Ralf Dietrich, Eunike Velleuer

Eighty percent of FA patients survive beyond age 20, carry a high risk for squamous cell carcinoma (SCC) of the oropharyngeal and anogenital regions connected with high morbidity and mortality. In addition to intrinsic genetic instability, HSCT and a number of other factors contribute to the pathoge…

Targeting lipid metabolism in FA for the prevention and treatment of squamous cell carcinoma

2016 | Research Grant | Susanne Wells

Dry and moist skin (e.g., in the mouth) plays a critical role in maintaining a barrier against environmental insults and cancer. Based on new data, this team believes that individuals with FA may have an impaired barrier and this may be why they are at risk for SCC. Specifically, data shows that FA …

Targeting LNK(SH2B3) to ameliorate hematopoietic stem/progenitor defects in Fanconi Anemia

2016 | Research Grant | Wei Tong

Dr. Tong recently discovered a novel gene called “LNK” that regulates bone marrow cell survival and growth. She found that loss of LNK in a mouse model of FA restores normal bone marrow functions and increases stem cell longevity. This new grant will allow Dr. Tong to explore the mechanisms underlyi…