Genetics research

Definition

Genetics research is the scientific discipline concerned with the study of the role of genes in traits such as the development of disease. It has a key role in identifying potential targets for therapeutic intervention and also in understanding genetically based variations in response to therapeutic interventions.

Latest Research and Reviews

  • Research | | open

    The mTOR pathway is a key regulator of normal brain development. Here, the authors identify de novo mutations in RHEB, an mTOR activator protein, in patients with intellectual disability associated with megalencephaly and find a role for RHEB in regulating neuronal soma size and migration in vitro and in vivo.

    • M. R. F. Reijnders
    • , M. Kousi
    • , G. M. van Woerden
    • , M. Klein
    • , J. Bralten
    • , G. M. S. Mancini
    • , T. van Essen
    • , M. Proietti-Onori
    • , E. E. J. Smeets
    • , M. van Gastel
    • , A. P. A. Stegmann
    • , S. J. C. Stevens
    • , S. H. Lelieveld
    • , C. Gilissen
    • , R. Pfundt
    • , P. L. Tan
    • , T. Kleefstra
    • , B. Franke
    • , Y. Elgersma
    • , N. Katsanis
    •  & H. G. Brunner
  • Research | | open

    Multiple transcriptome approaches, including single-cell sequencing, demonstrate that escape from X chromosome inactivation is widespread and occasionally variable between cells, chromosomes, and tissues, resulting in sex-biased expression of at least 60 genes and potentially contributing to sex-specific differences in health and disease.

    • Taru Tukiainen
    • , Alexandra-Chloé Villani
    • , Angela Yen
    • , Manuel A. Rivas
    • , Jamie L. Marshall
    • , Rahul Satija
    • , Matt Aguirre
    • , Laura Gauthier
    • , Mark Fleharty
    • , Andrew Kirby
    • , Beryl B. Cummings
    • , Stephane E. Castel
    • , Konrad J. Karczewski
    • , François Aguet
    • , Andrea Byrnes
    • , GTEx Consortium
    • , Tuuli Lappalainen
    • , Aviv Regev
    • , Kristin G. Ardlie
    • , Nir Hacohen
    •  & Daniel G. MacArthur
    Nature 550, 244–248
  • Research | | open

    Variability in human longevity is genetically influenced. Using genetic data of parental lifespan, the authors identify associations at HLA-DQA/DRB1 and LPA and find that genetic variants that increase educational attainment have a positive effect on lifespan whereas increasing BMI negatively affects lifespan.

    • Peter K. Joshi
    • , Nicola Pirastu
    • , Katherine A. Kentistou
    • , Krista Fischer
    • , Edith Hofer
    • , Katharina E. Schraut
    • , David W. Clark
    • , Teresa Nutile
    • , Catriona L. K. Barnes
    • , Paul R. H. J. Timmers
    • , Xia Shen
    • , Ilaria Gandin
    • , Aaron F. McDaid
    • , Thomas Folkmann Hansen
    • , Scott D. Gordon
    • , Franco Giulianini
    • , Thibaud S. Boutin
    • , Abdel Abdellaoui
    • , Wei Zhao
    • , Carolina Medina-Gomez
    • , Traci M. Bartz
    • , Stella Trompet
    • , Leslie A. Lange
    • , Laura Raffield
    • , Ashley Spek
    • , Tessel E. Galesloot
    • , Petroula Proitsi
    • , Lisa R. Yanek
    • , Lawrence F. Bielak
    • , Antony Payton
    • , Federico Murgia
    • , Maria Pina Concas
    • , Ginevra Biino
    • , Salman M. Tajuddin
    • , Ilkka Seppälä
    • , Najaf Amin
    • , Eric Boerwinkle
    • , Anders D. Børglum
    • , Archie Campbell
    • , Ellen W. Demerath
    • , Ilja Demuth
    • , Jessica D. Faul
    • , Ian Ford
    • , Alessandro Gialluisi
    • , Martin Gögele
    • , MariaElisa Graff
    • , Aroon Hingorani
    • , Jouke-Jan Hottenga
    • , David M. Hougaard
    • , Mikko A. Hurme
    • , M. Arfan Ikram
    • , Marja Jylhä
    • , Diana Kuh
    • , Lannie Ligthart
    • , Christina M. Lill
    • , Ulman Lindenberger
    • , Thomas Lumley
    • , Reedik Mägi
    • , Pedro Marques-Vidal
    • , Sarah E. Medland
    • , Lili Milani
    • , Reka Nagy
    • , William E. R. Ollier
    • , Patricia A. Peyser
    • , Peter P. Pramstaller
    • , Paul M. Ridker
    • , Fernando Rivadeneira
    • , Daniela Ruggiero
    • , Yasaman Saba
    • , Reinhold Schmidt
    • , Helena Schmidt
    • , P. Eline Slagboom
    • , Blair H. Smith
    • , Jennifer A. Smith
    • , Nona Sotoodehnia
    • , Elisabeth Steinhagen-Thiessen
    • , Frank J. A. Rooij
    • , André L. Verbeek
    • , Sita H. Vermeulen
    • , Peter Vollenweider
    • , Yunpeng Wang
    • , Thomas Werge
    • , John B. Whitfield
    • , Alan B. Zonderman
    • , Terho Lehtimäki
    • , Michele K. Evans
    • , Mario Pirastu
    • , Christian Fuchsberger
    • , Lars Bertram
    • , Neil Pendleton
    • , Sharon L. R. Kardia
    • , Marina Ciullo
    • , Diane M. Becker
    • , Andrew Wong
    • , Bruce M. Psaty
    • , Cornelia M. Duijn
    • , James G. Wilson
    • , J. Wouter Jukema
    • , Lambertus Kiemeney
    • , André G. Uitterlinden
    • , Nora Franceschini
    • , Kari E. North
    • , David R. Weir
    • , Andres Metspalu
    • , Dorret I. Boomsma
    • , Caroline Hayward
    • , Daniel Chasman
    • , Nicholas G. Martin
    • , Naveed Sattar
    • , Harry Campbell
    • , Tōnu Esko
    • , Zoltán Kutalik
    •  & James F. Wilson

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