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 |

    Erwin Gelfand, Andrew Snow, Joshua Milner and colleagues identify heterozygous CARD11 mutations associated with severe atopic disease in eight individuals from four families. They further show that the mutant CARD11 proteins exhibit both loss-of-function and dominant-interfering activity and that the cellular defects in patient T cells can be partially rescued by supplementing with glutamine.

    • Chi A Ma
    • , Jeffrey R Stinson
    • , Yuan Zhang
    • , Jordan K Abbott
    • , Michael A Weinreich
    • , Pia J Hauk
    • , Paul R Reynolds
    • , Jonathan J Lyons
    • , Celeste G Nelson
    • , Elisa Ruffo
    • , Batsukh Dorjbal
    • , Salomé Glauzy
    • , Natsuko Yamakawa
    • , Swadhinya Arjunaraja
    • , Kelsey Voss
    • , Jennifer Stoddard
    • , Julie Niemela
    • , Yu Zhang
    • , Sergio D Rosenzweig
    • , Joshua J McElwee
    • , Thomas DiMaggio
    • , Helen F Matthews
    • , Nina Jones
    • , Kelly D Stone
    • , Alejandro Palma
    • , Matías Oleastro
    • , Emma Prieto
    • , Andrea R Bernasconi
    • , Geronimo Dubra
    • , Silvia Danielian
    • , Jonathan Zaiat
    • , Marcelo A Marti
    • , Brian Kim
    • , Megan A Cooper
    • , Neil D Romberg
    • , Eric Meffre
    • , Erwin W Gelfand
    • , Andrew L Snow
    •  & Joshua D Milner
  • Research |

    Ingileif Jonsdottir, Björn Nilsson, Kari Stefansson and colleagues perform a genome-wide association study for immunoglobulin levels in Icelandic and Swedish cohorts. They find 38 new variants associated with IgA, IgG, IgM or composite immunoglobulin traits and identify candidate genes underlying the regulation of immunoglobulin levels.

    • Stefan Jonsson
    • , Gardar Sveinbjornsson
    • , Aitzkoa Lopez de Lapuente Portilla
    • , Bhairavi Swaminathan
    • , Rosina Plomp
    • , Gillian Dekkers
    • , Ram Ajore
    • , Mina Ali
    • , Arthur E H Bentlage
    • , Evelina Elmér
    • , Gudmundur I Eyjolfsson
    • , Sigurjon A Gudjonsson
    • , Urban Gullberg
    • , Arnaldur Gylfason
    • , Bjarni V Halldorsson
    • , Markus Hansson
    • , Hilma Holm
    • , Åsa Johansson
    • , Ellinor Johnsson
    • , Aslaug Jonasdottir
    • , Bjorn R Ludviksson
    • , Asmundur Oddsson
    • , Isleifur Olafsson
    • , Sigurgeir Olafsson
    • , Olof Sigurdardottir
    • , Asgeir Sigurdsson
    • , Lilja Stefansdottir
    • , Gisli Masson
    • , Patrick Sulem
    • , Manfred Wuhrer
    • , Anna-Karin Wihlborg
    • , Gudmar Thorleifsson
    • , Daniel F Gudbjartsson
    • , Unnur Thorsteinsdottir
    • , Gestur Vidarsson
    • , Ingileif Jonsdottir
    • , Björn Nilsson
    •  & Kari Stefansson
  • Research |

    • Stéphanie Guey
    • , Markus Kraemer
    • , Dominique Hervé
    • , Thomas Ludwig
    • , Manoëlle Kossorotoff
    • , Françoise Bergametti
    • , Jan Claudius Schwitalla
    • , Simone Choi
    • , Lucile Broseus
    • , Isabelle Callebaut
    • , Emmanuelle Genin
    • , Elisabeth Tournier-Lasserve
    • , the FREX consortium
    • , Génin E
    • , Campion D
    • , Dartigues J-F
    • , Deleuze J-F
    • , Lambert J-C
    • , Redon R
    • , Ludwig T
    • , Grenier-Boley B
    • , Letort S
    • , Lindenbaum P
    • , Meyer V
    • , Quenez O
    • , Dina C
    • , Bellenguez C
    • , Charbonnier-Le Clézio C
    • , Giemza J
    • , Chatel S
    • , Férec C
    • , Hervé Le Marec
    • , Letenneur L
    • , Nicolas G
    • , Rouault K
    • , Bacq D
    • , Boland A
    •  & Lechner D

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