Cristin-prosjekt-ID: 540157
Sist endret: 1. november 2018 15:05
Cristin-prosjekt-ID: 540157
Sist endret: 1. november 2018 15:05
Prosjekt

A Genetic and molecular characterisation of peripheral neuropathies

prosjektleder

Helle Høyer
ved Sykehuset Telemark HF

prosjekteier / koordinerende forskningsansvarlig enhet

  • Sykehuset Telemark HF

Finansiering

  • Helse Sør-Øst RHF

    • Prosjektkode: 2016133

Klassifisering

Vitenskapsdisipliner

Genetikk og genomikk • Nevrologi • Molekylærbiologi

HRCS-helsekategori

  • Nevrologisk
  • Medfødte lidelser

HRCS-forskningsaktivitet

  • 4 Påvising, screening og diagnose

Kategorier

Prosjektkategori

  • Anvendt forskning

Kontaktinformasjon

Telefon
0047 35003146
Sted
Helle Høyer

Tidsramme

Aktivt
Start: 1. november 2016 Slutt: 1. november 2020

Beskrivelse Beskrivelse

Tittel

A Genetic and molecular characterisation of peripheral neuropathies

Vitenskapelig sammendrag

Hereditary peripheral neuropathy is a group of diseases that involve the peripheral nerve system, affecting either sensory nerves, motor nerves or both. The patients experience waste of muscle mass and loss of sensation in the legs resulting in gait difficulties and decreased sensation of vibration, touch and pain. Establishing a genetic diagnose for this patient group has often been difficult due to the many possible genes involved.

Our research group has high expertise related to genetic diagnosis of peripheral neuropathy patients. We have in previous projects been highly successful in providing a higher proportion of these patients with a genetic diagnosis which improves patient care. This research will pursue our ongoing focus on identifying the genetic basis of peripheral neuropathies, but the study will also move towards elucidating gene function and biological consequences of variants causing peripheral neuropathies by performing functional studies.

The project will expand our knowledge of the genetic basis, gene function and biological mechanisms of variants causing peripheral neuropathies. Tightening the gap between genetic diagnostics in the clinic and functional analysis in a research setting is in high demand when the health care system is preparing for the shift towards genomic medicine, in order for genetic diagnosis to be effective and beneficial for the patient.

The project is a co-operation between different national and international groups. The genetic studies will mainly be performed by Helle Høyer at Section of Medical Genetics at Telemark Hospital HF whereas the functional studies will mainly be performed by Panpan You at Section of Clinical Molecular Biology at Akershus University Hospital but with contribution from Helle Høyer. The project participants are patients affected by peripheral neuropathy either already sampled at Telemark Hospital from the Norwegian population, in total 380 patients, or received from international co-operators in Italy, in total 31 families. Genetic variants likely to, but not yet confirmed to cause disease, will be tested by statistical, phenotypic and functional studies to evaluate their pathogenic potential and to achieve a stronger genotype-phenotype correlation. In cooperation with University Hospital of North Norway there will also be performed a phenotype study of patients identified with CMT 4C in Norway.

prosjektdeltakere

prosjektleder

Helle Høyer

  • Tilknyttet:
    Prosjektleder
    ved Sykehuset Telemark HF

Camilla Furu Skjelbred

  • Tilknyttet:
    Prosjektdeltaker
    ved Sykehuset Telemark HF

Michael Bjørn Russell

  • Tilknyttet:
    Prosjektdeltaker
    ved Akershus universitetssykehus HF

Panpan You

  • Tilknyttet:
    Prosjektdeltaker
    ved Akershus universitetssykehus HF

Hilde Nilsen

  • Tilknyttet:
    Prosjektdeltaker
    ved Akershus universitetssykehus HF
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Resultater Resultater

Clinical characteristics, minimum prevalence and spectrum of SH3TC2 mutations in Norway.

Arntzen, Kjell Arne; Høyer, Helle; Ørstavik, Kristin; Tallaksen, Chantal; Vedeler, Christian A.; Østern, Rune André Helland; Nebuchennykh, Maria; Braathen, Geir J.; Fagerheim, Toril. 2018, Peripheral Nerve Society Meeting. UIT, UNN, TELEMARK, UIO, OUS, UIBPoster

A novel AARS variant identified in three CMT2 families.

Høyer, Helle; Tveten, Kristian; Røsby, Oddveig; Hilmarsen, Hilde T; Busk, Øyvind; Svendsen, Marit; Holla, Øystein Lunde; Namløs, Gry Beate; Russell, Michael Bjørn; Skjelbred, Camilla Furu mfl.. 2018, Peripheral Nerve Society Meeting. TELEMARK, UIO, AHUS, OUSPoster

Charcot-Marie-Tooth disease type 4C in Norway: Clinical characteristics, mutation spectrum and minimum prevalence.

Arntzen, Kjell Arne; Høyer, Helle; Ørstavik, Kristin; Tallaksen, Chantal; Vedeler, Christian A.; Østern, Rune André Helland; Nebuchennykh, Maria; Braathen, Geir Julius; Fagerheim, Toril. 2018, Neuromuscular Disorders. UNN, STOLAV, TELEMARK, HAUKELAND, UIO, OUS, UIBVitenskapelig artikkel

Late-onset polyneuropathy and MME variants – a Norwegian study.

Høyer, Helle; Strand, Linda; Helås, Tormod; Holla, Øystein Lunde; Hilmarsen, Hilde T; Busk, Øyvind; Tveten, Kristian; Svendsen, Marit; Braathen, Geir Julius. 2017, European Academy of Neurology. TELEMARKFaglig foredrag

Prevalence and spectrum of SH3TC2 mutations in Norway.

Arntzen, Kjell Arne; Høyer, Helle; Ingebrigtsen, Monica; Busk, Øyvind Løvold; Holla, Øystein Lunde; Tveten, Kristian; Hilmarsen, Hilde T; Ørstavik, Kristin; Tallaksen, Chantal; Nebuchennykh, Maria mfl.. 2016, European Society of Human Genetics. UIT, UNN, TELEMARK, UIO, OUSPoster
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