Lantbruks- och trädgårdsföretagarnas egen forskningsstiftelse finansierar behovsdriven forskning för svenska förhållanden.
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Lantbruks- och trädgårdsföretagarnas egen forskningsstiftelse finansierar behovsdriven forskning för svenska förhållanden.
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Status: | Pågående |
Projektnummer: | H-18-47-406 |
Kategori: | Research program | Horse |
Ansökningsår: | 2018 |
Huvudsökande: | Sofia Mikko |
Organisation: | Sveriges lantbruksuniversitet |
E-postadress: | Sofia.Mikko@slu.se |
Telefon: | +46-18-671979 |
Medsökande: | Tomas Bergström |
Medsökande: | null null |
The overall aim of this project is to improve equine health and welfare by identifying causative mutations for inherited diseases to aid informed breeding of healthy horses. We will use a comparative genomics approach, combining whole-genome sequencing (WGS) and bioinformatics with state-of-the-art clinical diagnosis of disease phenotypes. In the project a general framework for mutation-detection of equine monogenetic diseases will be developed. The initial focus will be on anophthalmia and microphthalmia, potentially autosomal recessive disease/s, recently observed among Swedish Warmblood horses. The objectives of the study are to:
1. clinically define monogenic diseases with autosomal recessive inheritance,
2. develop a general framework for identifying disease causing mutation with a bioinformatics pipeline for whole-genome sequencing,
3. develop a plan for breeding advise in different scenarios of inheritance patterns, and severity of the disease.
Det övergripande målet med detta projekt är att förbättra hästens hälsa och välfärd genom att identifiera orsaken till ärftliga sjukdomar och att stödja en kunskapsbaserad uppfödning av friska hästar. Vi kommer att kombinera helgenomsekvenser (WGS) och bioinformatik med kliniska diagnoser av sjukdomsfenotypen. I projektet kommer en generell “pipeline” för mutationsdetektering av monogena sjukdomar hos häst att utvecklas. Initial kommer fokus att ligga på anoftalmi och mikroftalmi, potentiellt autosomal recessiv sjukdomar, som nyligen observerats bland svenska varmblodshästar (SWB). Syftet med studien är att:
1. kliniskt definiera monogena sjukdomar med autosomalt recessivt arv,
2. utveckla en “pipeline” för att identifiera sjukdomsframkallande mutationer med bioinformatik och helgenomsekvensering,
3. Utveckla en plan för avelsrådgivning i olika scenarier av arvsmönster och svårighetsgrad av sjukdom.
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