Genetics of cutaneous cancer and pigmentation of skin and eyes

MELANOGEN, our research group, primarily focuses its research on the genetic basis of carcinogenesis, as well as the characterization of somatic mutations and the clonal evolution of cancer (including normal healthy tissue), with a special emphasis on skin cancer. Additionally, the group has a strong interest in investigating the genetic and molecular mechanisms responsible for human pigmentation, both of the skin and the iris. Our research team is eclectic and diverse, comprising basic researchers specialized in human genetics and genomics, as well as clinical specialists whose expertise is more applied to the medical practice (particularly specialists in Dermatology and Ophthalmology). This balanced composition allows for a comprehensive approach to cancer research, covering both fundamental and clinical aspects. By studying the cancer genome, our goal is to understand the genetic and molecular foundations of tumour cell proliferation and the genetic mutations that are selected during the development and evolution of cancer, particularly skin cancer. To achieve this, we analyse samples of healthy tissue from volunteers without cancer and tumour tissue from oncology patients. Through collaborations with other research centres and universities (such as the UCL Cancer Institute in London, CNAG in Barcelona, the University of Santiago de Compostela, CNIO in Madrid, etc.), we conduct genotyping and massive genetic sequencing (NGS) of the DNA from these samples, followed by bioinformatics analysis. Our goal is to gain a deeper understanding of the genetics of molecular mechanisms and signalling pathways involved in cancer development and progression (especially skin and ocular cancers) by studying the evolution of accumulated mutations in the tumour genome. Additionally, we aim to further investigate the genetic mechanisms involved in skin and eye pigmentation (particularly of the iris), as well as the formation of benign hyperpigmented lesions, such as freckles and/or nevi, both in the skin and the eyes.

Researchers

Classifications

  • ODS: Good health and well-being
  • AREA: Medicine, health technology and health promotion