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Head, Genetics & Health

BSc with First Class Honours, PhD, DSc, FMedSci, FAA

Professor Blackwell's major interest is genetic epidemiology of infectious disease, and she has dedicated 40 years to research in neglected tropical diseases.

Professor Blackwell transitioned from postdoc to Reader at the London School of Hygiene and Tropical Medicine (1975-1991), continuously funded by a Wellcome Trust Senior Fellowship from 1982-1991.

She was recruited to the Glaxo Chair Molecular Parasitology at the University of Cambridge in 1991. Here she raised funds to build, and was Founding Director of, the Cambridge Institute for Medical Research (CIMR).

Professor Blackwell's appointment to Cambridge coincided with her role in promoting parasite genome projects. She chaired the WHO Leishmania Genome Consortium (1992-2003), promoting funding for genomic sequencing of L. major (Science, 2005), and establishing functional genomics including microarray expression profiling and screens for novel Leishmania vaccines.

Professor Blackwell has over 300 publications, including 196 original articles in refereed journals, 51 invited refereed reviews, 2 books, 22 invited book chapters, 15 major consortium papers as a primary author, and 36 as a consortium author. For 337 papers found in Google Scholar at 1 February 2018, 16,764 citations; H-index=68.  She has published in Nature, Nature Genetics, Science, PLoS Genet, Lancet Infect Dis, J Exp Med, J Immunol, J Infect Dis, Blood, J Biol Chem, Eur J Immunol, and many other high-profile journals in her field. She has had 15 invitations in the last 5 years to speak internationally (USA, India, Brazil, Thailand, Malaysia, Spain) including a Gordon Research Conference, WorldLeish6, MEEGID XIV.

Professor Blackwell's contribution to tropical medicine was recognised by the Chris Wright Medal (1994), the Leverhulme Medal (2000), election as a Fellow UK Academy of Medical Science (FMedSci, 2000), the award of an honorary DSc from the University of Khartoum (2009), award of a DSc from the University of Cambridge UK (2010), election as a Fellow of the Australian Academy of Science (FAA, 2015), and recipient of a Vice Chancellor’s Senior Research Award, UWA (2015).

In 2007, Professor Blackwell joined the Telethon Kids Institute to establish a new Genetics and Health Laboratory. She remains an Affiliated PI at CIMR and in the Department of Pathology at the University of Cambridge where she currently holds a UK Medical Research Council grant to undertake a genome-wide association study of cutaneous leishmaniasis in Brazil.  Professor Blackwell also holds a position at The University of Western Australia.

In addition to major projects studying risk factors for leishmaniasis in India and Brazil, projects undertaken at the Telethon Kids Institute include:

  • Family-based studies of ear infection and metabolic disease in a WA Aboriginal community;
  • Evaluating the genetic contribution to rheumatic heart disease pathogenesis in Australian Aboriginal and Torres Strait Islander communities (Lead investigator: Jonathan Carapetis)
  • The Aboriginal genetics study has provided unique opportunity for the development of novel and culturally appropriate methods of health education - watch the video The Goanna and the Journey of the Genes - Aboriginal Family Genetics and Health Study – Diabetes;
  • SeqNextGen: Translating NextGen sequencing for the diagnosis of developmental anomalies and rare diseases;
  • Toxoplasmosis: using transcriptomics and epigenetics to understand disease pathogenesis;
  • Zika: Is there an underlying genetic/epigenetic basis to microcephaly and eye damage due to congenital Zika virus infection.

Jenefer is married to GP Simon Miles who worked for 7 years in remote area Aboriginal health and is currently working in aged care in Perth in a unique GP/Nurse Practitioner Collaborative. They have two children still residing in the UK, and 7 granddaughters.


Professor Jenefer Blackwell, Australian Academy of Science Fellow