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Research theme 06 / 06

Rare diseases and genomics

Undiagnosed and rare diseases, orphan drugs and the genetics of neurological and autoinflammatory disease.

  • 4groups
  • 40researchers
  • 3facilities
Theme lead Prof. Eda Tahir Turanlı

About this theme

The Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), founded in 2017, brings together clinicians, diagnostic laboratories, patient organisations, professional bodies and pharmaceutical companies to improve diagnosis and treatment in rare diseases and to raise patients' quality of life. The Molecular Genetics Laboratory (IMGAL) identifies candidate genes in familial cases through genomic sequencing and bioinformatics, then characterises the variants in cell models, with multiple sclerosis and rare autoinflammatory diseases as its main areas.

Personalised medicine and genomic analysis, undiagnosed and rare diseases, and fetal-neonatal onset endocrinological diseases are among the School of Medicine's declared research areas.

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