About the Study

Principal investigator: Michael Benatar, MD, PhD

Interpreting Dna GelThe CRiALS Genetics study is aimed at increasing our understanding the genetic causes of ALS and related disorders; helping us to identify individuals who are at a genetic risk for developing these disease; and thereby to work towards developing new therapies for individuals with ALS and/or who are at risk for developing disease. Eligible participants submit a blood sample, which can be collected at our research site or remotely by mail. The sample collected is then sent for genetic testing. Results of genetic testing are only provided to affected individuals.

Eligibility Criteria

Eligible Participants include:

  • Individuals affected with neurological disease that may be caused by a genetic abnormality
  • Individuals with a family history of neurological disease
  • Individuals with no neurological disease nor indication of family history disease
Funding Agencies

ALS_recovery_find_Logo
ALS Recovery Fund

Collaborators
  • Peter Andersen, MD, DMSc (Umea University, Sweden)
  • Christine Stanislaw, MS (Emory University)
  • Paul Tayler, MD, PhD (St. Jude Children’s Hospital)
  • Stephan Züchner, MD, PhD (University of Miami)
Contact

Research coordinators:

  • Catalina Fernandez, MD (Clinical Research Coordinator, University of Miami)
  • Ashley Manso, BS (Research Assistant, University of Miami)

Contact information:

Links
Publications
  • Nordin A, Akimoto C, Wuolikainen A, Nordin F, Alstermark H, Forsberg K, Baumann P, Pinto S, de Carvalho M, Hübers A-M, Ludolph A, Weishaupt J, Meyer T, Grehl T, Schweikert K, Weber M, Burkhardt C, Neuwirth C, Holmøy T, Morita M, Tysnes O-B, Benatar M, Wuu J, Lange D, Bisgård C, Asgari N, Tarvainen I, Brännström T, Andersen PM. Sequence variations in C9orf72 downstream of the hexanucleotide repeat region and its effect on repeat-primed PCR interpretation: A large multinational screening study. Amyotroph Lateral Scler Frontotemporal Degener. 2016 Dec 12:1-9. [Epub ahead of print]
  • Benatar M, Stanislaw C, Reyes E, Hussain S, Cooley A, Fernandez MC, Dauphin D, Michon SC, Andersen PM, Wuu J. Pre-Symptomatic ALS Genetic Counseling and Testing: Experience and Recommendations.  Neurology, 86(24): 2295-302, 2016.  [ Pubmed Link ] PMID: 27194384
  • Johnson JQ, Mandrioli J, Benatar M, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron. 2010 Dec 9;68(5):857-64. [ Pubmed Link ]
  • Renton AE, Majounie E, Waite A, et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron. 2011 Oct 20;72(2):257-68. [ Pubmed Link ]
  • Kim HJ, Kim NC, Wang YD, et al. Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS. Nature. 2013 Mar 28;495(7442):467-73. [ Pubmed Link ]

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