Professor Kim Summers Leads the Genetics, Genomics and Transcriptomics Research Group of Mater Research, based at the state-of-the-art Translational Research Institute. To date she has received $5M in competitive funding and has authored over 140 peer-reviewed scientific publications.

Kim’s overall interest is in human genetic diseases and her career has spanned a range of conditions including Marfan syndrome and related conditions, Fragile X syndrome, haemochromatosis, microdeletion syndromes and disorders of haemoglobin synthesis. She is currently using whole genome sequencing to study families with the skin cancer predisposition condition Gorlin syndrome, in particular with a severe form caused by a microdeletion of chromosome 9. She is also working with clinicians at Mater Health and the Queensland Children’s Hospital to examine candidate genes for the metabolic disease glutaric aciduria type II.

In addition to whole genome sequencing, Kim is interested in newly developed sequencing approaches that analyse the total RNA expression of specific tissues (the transcriptome). She has collaborated with a number of other research groups at Mater Research to perform network analysis and identify clusters of co-expressed genes, thought to have similar functions and regulation. This work is primarily done with the Macrophage Biology Research Group, looking at diseases which result from abnormalities of a class of immune cells called macrophages.

Kim has a PhD in Biochemical Genetics from the Australian National University, a Graduate Diploma in Human Biology from the University of Oxford UK, and a Graduate Diploma in Education from the University of Queensland. She has supervised 15 PhD students, 4 Honours students, 1 research MSc and more than 30 course work Masters students to completion. She currently works half time with Mater Research where she supervises 2 PhD students.