Andrew Jackson

Mechanisms for microcephaly, cancer and autoinflammation.

Professor Andrew Jackson is a Programme Leader at the MRC Human Genetics Unit, University of Edinburgh, and also practices as a Consultant in Clinical Genetics. He studied medicine at Newcastle University (1993) and completed his PhD at Leeds University (2001), before moving to Edinburgh to start his own group in 2007. Andrew was elected as a Fellow of the Royal Society (2020), the Royal Society of Edinburgh (2014) and the Academy of Medical Sciences (2014), and is a member of EMBO (2013).

The Jackson lab identifies genes for Mendelian disorders affecting human brain size and defines the functional role of the encoded proteins using multidisciplinary and multiscale approaches. The ultimate aim is to harness human phenotypes to gain new insights into basic biological processes and extend understanding of disease mechanisms. 

portrait photo of Andrew Jackson
Andrew Jackson

Paula Carroll - Research Technician, Dr Maggie MacDonald - Research Coordinator, Dr Carol-Anne Martin - Postdoctoral Researcher, Zofia Pukalo - PhD student (with Professor Jeyaprakash Arulanandam), Dr Martin Reijns - Senior Postdoctoral Researcher, Andrea Robertson - Senior Research Technician and Area Supervisor, Dr Dan Sarni - Postdoctoral Researcher, Dr Colin Stok - Postdoctoral Researcher, Dr Lukas Tamayo Orrego - Postdoctoral Researcher (EMBO fellowship), Nic Robertson - Clinical Research Fellow (CSO fellowship), Maarten van den Ancker - PhD Student, and Zicheng Yu (YC) - PhD Student (with Professor Martin Taylor).


montage of images related to development

We discover genes for Mendelian disorders and define the functional role of the encoded proteins using multidisciplinary and multiscale approaches. Our ultimate aim is to harness human phenotypes to gain new insights into basic biological processes and extend understanding of human disease mechanisms for common diseases, cancer and ageing.

We work with individuals with microcephalic primordial dwarfism, the ‘smallest people in the world’. We also study Aicardi-Goutières syndrome, a paediatric inflammatory disorder that mimics congenital viral infections such as Zika, CMV and Rubella.

Using a ‘human as a model organism’ approach we aim to gain insights into:

  • how cell number is determined during development to explain the range of size in man and other mammals;
     
  • the consequences of embedding ribonucleotides into the nuclear genome, investigating their role in genome instability, mutagenesis and inflammation.

 

In silico protein interaction screening uncovers DONSON's role in replication initiation. Lim et al, Science 2023.

Signatures of TOP1 transcription-associated mutagenesis in cancer and germline. Reijns et al, Nature 2022.

Gain of function DNMT3A mutations cause microcephalic dwarfism and hypermethylation of polycomb-regulated regions. Heyn et al, Nature Genetics 2019.

CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions. Zimmermann et al, Nature 2019.

cGAS surveillance of micronuclei links genome instability to innate immunity. Mackenzie et al, Nature 2017.


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