title: CRISPR: a versatile tool for both forward and reverse genetics research.
abstract: 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.
authors.affiliation: Developmental Neuroscience, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA. cgurumurthy@unmc.edu.|Mouse Genome Engineering Core Facility, Vice Chancellor for Research Office, University of Nebraska Medical Center, Omaha, NE, USA. cgurumurthy@unmc.edu.
authors.forename: Channabasavaiah B
authors.initials: CB
authors.lastname: Gurumurthy
authors.affiliation: Otolaryngology Department, University of Miami Miller School of Medicine, Miami, FL, USA. m.grati@med.miami.edu.
authors.forename: M'hamed
authors.initials: M
authors.lastname: Grati
authors.affiliation: Department of Molecular Life Science, Division of Basic Medical Science and Molecular Medicine, School of Medicine, Tokai University, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.|The Institute of Medical Sciences, Tokai University, 143 Shimokasuya, Isehara, Kanagawa, 259-1193, Japan.
authors.forename: Masato
authors.initials: M
authors.lastname: Ohtsuka
authors.affiliation: Department of Genetics, Harvard Medical School, 77 Avenue Louis Pasteur, Boston, MA, 02115, USA.
authors.forename: Samantha L P
authors.initials: SL
authors.lastname: Schilit
authors.affiliation: Mouse Genome Engineering Core Facility, Vice Chancellor for Research Office, University of Nebraska Medical Center, Omaha, NE, USA.
authors.forename: Rolen M
authors.initials: RM
authors.lastname: Quadros
authors.affiliation: Otolaryngology Department, University of Miami Miller School of Medicine, Miami, FL, USA.|Department of Otolaryngology, Xiangya Hospital, Central South University, Changsha, Hunan, China.
authors.forename: Xue Zhong
authors.initials: XZ
authors.lastname: Liu
mesh_terms: D035843:Biomedical Research; D064112:Clustered Regularly Interspaced Short Palindromic Repeats; D005826:Genetics, Medical; D006801:Humans; D059386:Reverse Genetics