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Institute of Genetics and Cancer

Institute of Genetics and Cancer

A blog for our community to write about their interests and to share their stories.

  1. Institute of Genetics and Cancer
  2. Tag: Rare disease research

Tag: Rare disease research

Graphiic showing development of the human face

Working together to unveil the genetics behind Rare Disease – collaborative PhD projects

How can early career researchers, such as PhD students, integrate the expertise of several labs into their research? This post aims to introduce why we research rare diseases, particularly craniofacial disorders, and share the experiences of students working across labs with complementary expertise. Congenital malformations are conditions which emerge early in development. Researching the genetics […]

17th July 2024 0

IGC seating area

Newly identified gain-of-function MDA5 mutation results in Aicardi-Goutières syndrome

Above: Comfy sofas for scientific discussions   In September 2023, I began my 4-year MRC Human Genetics Unit (HGU) PhD journey at the Institute of Genetics and Cancer (IGC) in Edinburgh. Despite consistently nearly being blown away by the wind, I shall still head to the IGC for my experiments and PhD training. I am […]

26th February 2024 0

RNAse H2 structure, predicted with AlphaFold-Multimer

Artificial Intelligence: The future of rare disease research?

Above: RNAse H2 structure, predicted with AlphaFold-Multimer. The visualization of interfaces raises questions on mechanisms of action, which can then be experimentally tested in the wet lab.   Artificial Intelligence, or AI, is slowly starting to make its way into every aspect of life. In the increasingly data-driven field of Biology, tools like AlphaFold are […]

22nd February 2024 0

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