Gillian Bates, Biologist & Huntington’s Disease Researcher

Gillian Patricia Bates was born in Coventry, England to Alan and Joan Bates. Both her parents were keen on her education, hoping that this would allow her more opportunities in the future. As a fact-driven, precise individual, the sciences were one of Gillian’s strong subjects, and with support from her father, who trained as an electrical engineer and draftsman, she ultimately decided to pursue a career in this field.

Bates attended Kenilworth Grammar School in Kenilworth, Warwickshire then went on to attend the University of Sheffield, receiving first-class honors and earning a Bachelor of Science Degree in 1979. She then completed a Master of Science degree in Biomolecular Organization at Birkbeck College, London in 1984. Bates went on to obtain her Ph.D. in 1987 from the St. Mary’s Hospital Medical School, where she successfully mapped the gene for cystic fibrosis. She shared that collaboration with mentors Bob Williamson and Hans Lehrach and their proactive encouragement of women in their labs allowed her to grow as a scientist without limits.

After receiving her Master’s degree from Birkbeck College, she became a research assistant in Bob Williamson’s Department at the St. Mary’s Hospital Medical School, driven by her interest in human genetics and identifying the consequences of mutations on developing genetic diseases. Here, she carried out her Ph.D. research studying the molecular genetics that underlies cystic fibrosis. This disease is caused by a mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which controls cell diffusion or the movement of water and salt in and out of cells. This results in a buildup of abnormally adherent and viscous mucus in organs, such as the intestines, pancreas, liver, and lungs. This condition presents itself in multiple respiratory and digestive issues. Her article was published in 1987, the year she received her PhD, where she was able to consolidate and extend these molecular approaches to mapping human chromosomes.

After acquiring her Ph.D., she transferred to the Imperial Cancer Research Fund, specifically Hans Lehrach’s laboratory, as a postdoctoral fellow. The lab’s aim was to identify the mutation that leads to the development of Huntington’s Disease, and it worked as part of an international collaborative research group under the Hereditary Disease Foundation. This institution specializes in this disease and is responsible for funding research groups, fostering innovation through workshops, recognizing scientific leadership, and investigating potential cures. Bates was the leader of a small team, which headed the genetic mapping and large scale replication of this mutation. In 1993, the discovery of the mutation (a CAG repeat expansion) was made. It is also known as a trinucleotide repeat expansion. Here, in the joining of Okazaki fragments (short sequences of DNA nucleotides) on the lagging strand of the DNA, instead of single-strand flaps being removed before ligation, it forms a stable hairpin structure, resulting in the insertion of repeating triplet units.

Source: Science Direct

Bates moved as a Senior Lecturer to the Department of Medical and Molecular Genetics at the United Medical and Dental Schools to establish an independent research group dedicated to researching the molecular basis of Huntington’s Disease. Her lab was the first to publish mouse models of the disease in 1996, which ultimately allowed her to identify the mutation in the Huntingtin (HTT) gene with Stephen Davies in 1997. This mutation led to an abnormally long polyglutamine tract in the corresponding protein, and based on her research, another scientist Hang Ho Cha identified the transcriptional dysregulation mechanism in the disease in 1998 at King’s College London.

Bates became a Professor of Neurogenetics at King’s College London (KCL) in 1998, then Head of Division of Genetics and Molecular Medicine in 2011. She moved her lab to its current location, the Institute of Neurology at University College London (UCL), and established the Huntington’s Disease Centre with Professor Sarah Tabrizi, also an FMedSci. At UCL, she is a Professor of Molecular Neuroscience at the Institute of Neurology and UCL Dementia Research Institute. She is also Vice-Dean of the Faculty of Brain Sciences and Co-Director of Huntington’s Disease Centre. Findings from her research at UCL include monitoring the aberrant splicing of HTT, followed by the production of a small mRNA coding for an exon 1 HTT protein. This protein is highly pathogenic in a number of models. One program in Bates’ research is to understand this sequence of events, determine exon 1 HTT’s role in the disease, and conduct a preclinical assessment on approaches preventing the generation of these small mRNA sequences.

Today, Gillian Bates is renowned for her contributions to our understanding of the molecular basis for Huntington's disease and is breaking new ground as a Professor of Neurogenetics at the UCL Institute of Neurology and as the Co-Director of the UCL Huntington’s Disease Centre.

Some of her many honors include:

• 1998- recipient of the Royal Society Glaxo Wellcome Award (with Steven Davies)
• 1999- elected to be a fellow at Academy of Medical Sciences, recipient of the Max Planck Research Award for International Cooperation
• 2001- recipient of the Klaus Joachim Zülch-Preis Prize
• 2002- elected to be a fellow at the European Molecular Biology Organisation
• 2007- elected to be a fellow at the Royal Society
• 2011- elected to be a council member at the Royal Society, recipient of the Leslie Brenner Gehry Prize for Innovation in Science
• 2014- editor of Huntington’s Disease: fourth edition (H-index: 21)
• 1993-2021- participated in over 250 publications of the biomedical literature, with over 110 dedicated to Huntington’s disease

by Charlotte Wong

References

1. (2007) Bates, Prof. Gillian Patricia. London, United Kingdom: Who’s Who. https://www.ukwhoswho.com/view/10.1093/ww/9780199540884.001.0001/ww-9780199540884-e-6775;jsessionid=34D8F353A35EB9719F82725875DB3FA5
2. (2016) Professor Gill Bates. London, United Kingdom: Brain Sciences. https://www.ucl.ac.uk/brain-sciences/professor-gill-bates.
3. Mohamed, Abdul Wadood. (2020) Cystic Fibrosis. San Francisco, CA: Healthline Media. https://www.healthline.com/health/cystic-fibrosis#symptoms.
4. Bates, Gillian Patricia. (1987) Molecular approaches towards the genetic mapping of human chromosomes: with special reference to the cystic fibrosis gene. London, United Kingdom: University of London. https://catalogue.libraries.london.ac.uk/record=b1533637.
5. Hereditary Disease Foundation. Washington D.C., WA: The National Academies Press. https://www.hdfoundation.org/.
6. Brown, V. and Warren, S.T. (2013) Trinucleotide Repeats. Brenner’s Encyclopedia of Genetics (Second Edition), Vol. 7, p181–185, https://www.sciencedirect.com/topics/biochemistry-genetics-and-molecular-biology/trinucleotide-repeat-expansion.
7. (2018) Prof. G. Bates. London, United Kingdom: UCL Queen Square Institute of Neurology. https://www.ucl.ac.uk/ion/research/departments/neurodegenerative-disease/people/prof-g-bates.
8. Prof. Gillian Bates. London, United Kingdom: Loulou Foundation. https://www.louloufoundation.org/gill-bates.html.
9. Journal of Huntington’s Disease. Madrid, Spain: Scimago Lab. https://www.scimagojr.com/journalsearch.php?q=21100332455&tip=sid&clean=0.
10. Gillian Bates. (2020) Bethesda, MD: PubMed.gov. https://pubmed.ncbi.nlm.nih.gov/?term=gillian+bates+.