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FARAFARA Cure FA

Research Resources

FARA-funded research has facilitated the discovery and development of research resources such as animal models, cell models, antibodies, biorepositories, etc.

We are grateful to the discovery scientists who have worked hard to bring us these important assets and continue to give to the community by sharing their results, knowledge, expertise and resources. It is our goal to promote collaboration throughout the research community by communicating with the discovery, translational and clinical scientists and facilitating their access to such resources.

Mouse Models in Friedreich’s ataxia

FARA is grateful to the FA researchers who have created and characterized FA mouse models. FARA collaborates with the Jackson Laboratory (JAX), Brunel University (UK), Erasme University (Belgium), Murdoch Children’s Research Institute (Australia), IGBMC (France), and UCLA (USA) to make mouse models of Friedreich’s ataxia (FRDA) available to the greater research community. FARA has partnered with JAX to centralize and expedite sharing of existing FA mouse models and to characterize those models. In addition, JAX has ongoing work to develop and make new models available to the Friedreich’s ataxia community. Twelve mouse models are now available for use at Jackson Laboratories, and three additional models are available from IGBMC, and one through UCLA.

Please view the PDF below for more information.


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Friedreich’s ataxia lymphoblast and fibroblast cell lines are available at the Coriell Cell Repository:
http://ccr.coriell.org/Sections/Search/Search.aspx?PgId=165&q=frda
Note: Several researchers have reported problems working with the fibroblast lines from Coriell (they have been passaged many times) and there are only a few lines available.

Friedreich’s ataxia derived iPS cells are now available at Coriell Cell Repository:
http://ccr.coriell.org/Sections/Search/Sample_Detail.aspx?PgId=166&Ref=GM23404
http://ccr.coriell.org/Sections/Search/Sample_Detail.aspx?PgId=166&Ref=GM23913

These cell lines were established by the Gottesfeld laboratory at The Scripps Research Institute.
Coriell provides a Certificate of Analysis.

Reference -
Ku S, Soragni E, Campau E, Thomas EA, Altun G, Laurent LC, Loring JF, Napierala M, Gottesfeld JM
Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA·TTC triplet repeat instability
Cell stem cell7:631-7 2009     PubMed ID: 21040903

A repository of >40 Friedreich Ataxia fibroblasts established in collaboration between Dr. Napierala (University of Alabama at Birmingham) and Dr. David Lynch (Children’s Hospital of Philadelphia) laboratories.

Repository-FA-Fibroblasts-2016.pdf

Requests for cells can be sent directly to mnapiera@uab.edu or lynchd@mail.med.upenn.edu

Access the FARA Cell Line Database

FARA is working closely with several investigators in the United States, Europe and Australia who are developing FA neuronal and cardiac cell models by differentiation of induced pluripotent stem (iPS) cells derived from patient fibroblasts (e.g. Generation of Induced Pluripotent Stem Cell Lines from Friedreich Ataxia Patients, Liu J, Verma PJ, Evans-Galea MV, Delatycki MB, Michalska A, Leung J, Crombie D, Sarsero JP, Williamson R, Dottori M, Pébay A, Stem Cell Rev and Rep 2010 Dec 22 22 and Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability.Ku S, Soragni E, Campau E, Thomas EA, Altun G, Laurent LC, Loring JF, Napierala M, Gottesfeld JM. Cell Stem Cell. 2010 Nov 5)

Some of these models are available for sharing and some FA iPS cells are being banked for greater access to researchers worldwide.

Other cellular models have been developed from a variety of approaches, with different defining features, e.g., Dr. Helene Puccio and colleagues developed murine cellular models for FRDA that have all the biochemical phenotypes associated with FA; making this model ideal for drug discovery. The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia Nadège Calmels, Stéphane Schmucker, Marie Wattenhofer-Donzé, Alain Martelli, Nadège Vaucamps, Laurence Reutenauer, Nadia Messaddeq, Cécile Bouton, Michel Koenig, Hélène Puccio. PlosOne July 24, 2009

Several other investigators have developed high throughput assays for drug discovery in FA. These assays vary significantly – some assays developed focus on readouts of mitochondrial function, some focus on direct measurements of frataxin (e.g. genetically-derived assays that carry the expanded GAA repeats in the FRDA gene).

If you would like to learn more about these cellular models or assays or be connected directly to these discovery scientists please contact: Jane Larkindale at jane.larkindale@curefa.org.

Through the Collaborative Clinical Research Network in FA, small biorepositories of DNA, RNA, plasma and serum from FA patients have been established. In addition investigators in the CCRN in FA are willing to collaborate with researchers who need fresh biological samples from FA patients for translational and clinical research studies, please contact Jane Larkindale at jane.larkindale@curefa.org.

Tissue Bank - Dr. Arnulf Koeppen, VA Medical Center in Albany, New York

To make valuable tissues available to FA investigators everywhere, FARA supports an autopsy and tissue donation program at the VA Medical Center in Albany, New York. The program's principal investigator, Dr. Arnulf Koeppen, is a neurologist and neuropathologist and has made significant contributions to our understanding of FA and other ataxias. This tissue bank has fixed and frozen tissues from brain, spinal cord, heart, sural nerve, and pancreas of 30 individuals with FA. Requests for these tissues can be made directly to Dr. Koeppen.

Dr. Arnulf H. Koeppen
VA Medical Center
113 Holland Ave
Albany, N.Y. 12208
Phone: (518) 626-6391  or  (518) 626-6377
Fax: (518) 626-6369
email: arnulf.koeppen@va.gov

Frataxin antibodies are available from various sources. Below are a few references.

Mito Sciences has anti-frataxin monoclonal antibodies and/or protein immunoassays In addition, MitoSciences has a wide range of reagents and assays that can be used to assess the downstream consequences of altered frataxin expression on enzyme levels, enzymatic activities, and expression pattern of proteins that depend on iron-containing prosthetic groups for activity and assembly.

http://www.mitosciences.com/frataxin.html

SantaCruz Biotechnology has frataxin monoclonal and polyclonal antibodies.

Mouse monoclonal IgG1, 100µg/ml, recommended for detection of Frataxin of human origin by WB, IP and ELISA
Goat or rabbit polyclonals, recommended for detection of Frataxin of mouse, rat and human origin by WB, IF and ELISA

In addition, Santa Cruz has Frataxin specific siRNA, sHRNA Plasmid and shRNA Lentiviral Particles gene silencers are also available.

http://www.scbt.com/table-frataxin.html

UC Davis/NIH NeuroMab Facility – NeuroMab has a monoclonal frataxin antibody. Monoclonal antibody info: Mouse strain: Balb/C Myeloma cell: SP2/0 Mouse Ig Isotype: IgG2b NeuroMab Applications: Immunoblot and Immunocytochemistry Species Reactivity: human, mouse

http://neuromab.ucdavis.edu/datasheet/N191_7.pdf

http://neuromab.ucdavis.edu/catalog.cfm

Millipore has frataxin monoclonal and polyclonal antibodies.

Polyclonal anti-frataxin derived from rabbit - http://www.millipore.com/catalogue/item/ab15080

Monoclonal anti-frataxin derived from mouse, recognizes only isoforms of frataxin containing exon 4. - http://www.millipore.com/catalogue/item/mab1594

Friedreich Ataxia -Omic Datasets

FARA is grateful to the research community for continued characterization and subsequent data sharing of datasets from Friedreich ataxia patient samples and animal and cell-based models.

Please view the PDF below for an overview of published transcriptomic, proteomic and metabolomic studies using different FA models.


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Measurement of Frataxin

Friedreich’s Ataxia is caused by low levels of the protein frataxin, a consequence of mutations in the frataxin gene. Many potential therapies disease aim to increase levels of frataxin, targeting the root cause of the disease. Thus, sensitive, accurate and quantitative measurement of frataxin is an important biomarker in drug development, while understanding protein levels is also important in basic research. Several frataxin assays have been developed with different characteristics, which can be used for different contexts of use both in vitro and in vivo.

Please view the PDF below for more information.


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Diagnosis of FA

Genetic testing has been the clinical standard for diagnosis of Friedreich's Ataxia since the gene was identified in the late 1990’s. There is little published data on the time it takes for an individual to receive correct diagnosis. In this poster, we have used data from two sources (the Collaborative Clinical Research Network and a survey of patients and families) to evaluate the time to diagnosis—and its influencing factors—for adult and non-adult individuals with Friedreich’s Ataxia (FA).

- Click on the Poster to enlarge -

FARA Diagnosis Poster

The National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health (NIH), has developed Friedreich’s Ataxia (FA) Common Data Elements (CDEs) for use in clinical research. The NINDS recently assembled an external working group of experts, the FA CDE Working Group, to develop “Version 1.0” of the Friedreich’s Ataxia CDEs and they are now ready for use in Friedreich’s Ataxia clinical research community.

Friedreich's Ataxia CDE Standards Version 1.0

The NINDS CDE Web site fully describes the NINDS CDE Project and its goals. In summary, the CDE Project aims to develop content standards, both generic and disease-specific, that enable clinical investigators to systematically collect, analyze, and share data across the research community. The NINDS first convened the Friedreich’s Ataxia CDE Working Group in June 2010. Over a one-year period the Friedreich’s Ataxia CDE Working Group identified and defined a catalog of CDEs investigators can choose from when assembling their clinical study materials. The Friedreich’s Ataxia CDE Working Group has not attempted to define the complete universe of variables a clinical study will collect; rather, their goal has been to isolate elements that will be useful across multiple FA clinical studies.

To develop the Friedreich’s Ataxia (FA) CDEs, the FA CDE Working Group divided into subgroups to focus on identifying and defining data elements in the domains of:

  • Ataxia and Performance Measures
  • Biomarkers
  • Cardiac and Clinical Outcomes
  • Demographics, Medical History/ Prior Health Status, Laboratory Tests/ Vital Signs

Scientific Reference
Mov Disord. 2012 Dec 12. doi: 10.1002/mds.25201. [Epub ahead of print]
Common data elements for clinical research in Friedreich's ataxia
Lynch DR, Pandolfo M, Schulz JB, Perlman S, Delatycki MB, Payne RM, Shaddy R, Fischbeck KH, Farmer J, Kantor P, Raman SV, Hunegs L, Odenkirchen J, Miller K, Kaufmann P

FA Common Data Elements (full text - PDF)

FARA encourages all investigators doing clinical research studies in FA to consult these guidelines. The FA CDEs include case report form (CRF) modules, standardized data element definitions, and instructions intended to expedite the development of data collection tools. There is also significant gain from the ability to share and compare data across studies – these common data elements are a platform ensuring uniformity in data collection across multiple distinct studies so that later comparative analyses may be performed.