Human Genetics

, Volume 135, Issue 9, pp 971–976 | Cite as

CRISPR: a versatile tool for both forward and reverse genetics research

  • Channabasavaiah B. Gurumurthy
  • M’hamed Grati
  • Masato Ohtsuka
  • Samantha L. P. Schilit
  • Rolen M. Quadros
  • Xue Zhong Liu
Part of the following topical collections:
  1. Genome Editing


Human genetics research employs the two opposing approaches of forward and reverse genetics. While forward genetics identifies and links a mutation to an observed disease etiology, reverse genetics induces mutations in model organisms to study their role in disease. In most cases, causality for mutations identified by forward genetics is confirmed by reverse genetics through the development of genetically engineered animal models and an assessment of whether the model can recapitulate the disease. While many technological advances have helped improve these approaches, some gaps still remain. CRISPR/Cas (clustered regularly interspaced short palindromic repeats/CRISPR-associated), which has emerged as a revolutionary genetic engineering tool, holds great promise for closing such gaps. By combining the benefits of forward and reverse genetics, it has dramatically expedited human genetics research. We provide a perspective on the power of CRISPR-based forward and reverse genetics tools in human genetics and discuss its applications using some disease examples.


Reverse Genetic Double Strand Break Reverse Genetic Approach Forward Genetic CRISPR System 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



We thank Sidi Chen for his helpful comments on the manuscript. CBG’s lab is partially supported by National Institute of General Medical Sciences of the National Institutes of Health under Grant No. P20GM103471 and the Center for Humanized Mice from ORIP/DPCPSI/NIH/1R24OD018546-01. XZL’s lab is supported by R01 DC05575, R01 DC01246, and R01 DC012115 from the National Institutes of Health/National Institute on Deafness and Other Communication Disorders. SLPS is supported by the NSF Graduate Research Fellowship DGE1144152. Any opinion, findings, and conclusions or recommendations expressed in this material are those of the authors and do not necessarily reflect the views of the National Science Foundation. We apologize to colleagues whose studies could not be cited because of space constraints.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Channabasavaiah B. Gurumurthy
    • 1
    • 2
  • M’hamed Grati
    • 3
  • Masato Ohtsuka
    • 4
    • 5
  • Samantha L. P. Schilit
    • 6
  • Rolen M. Quadros
    • 2
  • Xue Zhong Liu
    • 3
    • 7
  1. 1.Developmental NeuroscienceMunroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical CenterOmahaUSA
  2. 2.Mouse Genome Engineering Core Facility, Vice Chancellor for Research OfficeUniversity of Nebraska Medical CenterOmahaUSA
  3. 3.Otolaryngology DepartmentUniversity of Miami Miller School of MedicineMiamiUSA
  4. 4.Department of Molecular Life Science, Division of Basic Medical Science and Molecular MedicineSchool of Medicine, Tokai UniversityIsehara, KanagawaJapan
  5. 5.The Institute of Medical SciencesTokai UniversityIsehara, KanagawaJapan
  6. 6.Department of GeneticsHarvard Medical SchoolBostonUSA
  7. 7.Department of OtolaryngologyXiangya Hospital, Central South UniversityChangshaChina

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