Janine Lamb
  • Stopford Building, Oxford Road

    M13 9PT Manchester

    United Kingdom

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Personal profile


Janine Lamb is Reader in Complex Human Genetics/Genomics within the Centre for Epidemiology, Division of Population Health, Health Services Research and Primary Care, Faculty of Biology, Medicine and Health at the University of Manchester.


University of Manchester: Reader in Complex Human Genetics/Genomics, 2016 – present

University of Manchester: Senior Lecturer in Complex Human Genetics/Genomics, 2012 – 2016

University of Manchester: Lecturer in Complex Human Genetics/Genomics, 2006 – 2012
Wellcome Trust Centre for Human Genetics, University of Oxford:
Postdoctoral Research Fellow. 2001 – 2006.
University of Oxford: DPhil. in molecular genetics, 1997-2001
Wellcome Trust Centre for Human Genetics, University of Oxford: Research Assistant, 1995- 1997
University of Manchester: Bsc Hons in Pharmacology (sandwich), 1989-1993

Research interests

Janine’s research is focused on understanding genetic susceptibility to several human disorders in order to improve understanding of aetiology and pathogenesis. Ultimately, this may identify potential biomarkers of disease, or indicate targets for improved intervention and treatment strategies. This research focusses on both complex and Mendelian disorders, including idiopathic inflammatory myopathies (myositis), interstitial lung disease, autism, myasthenia gravis and inherited retinal disease. This research often has required involvement in large international consortia, with collective access to significant numbers of patient samples and extensive technological infrastructure. Using this collaborative, international, approach, we have been able to produce a sustained output of high quality, internationally leading peer-reviewed publications, and to produce research of significant impact in these fields. This work has been presented at many national and international conferences.

Idiopathic Inflammatory Myopathies

The idiopathic inflammatory myopathies are autoimmune disorders characterized by inflammation of muscle tissue (myositis), which leads to muscle weakness and fatigue. Other disease features may include cancer and lung disease. Circulating autoantibodies can be detected in ~80% of patients; these autoantibodies are a sensitive and specific predictor of an individual’s clinical presentation, disease progression and treatment response. Affected individuals are often permanently disabled due to delays in diagnosis and poorly targeted therapeutic treatments, as the causes of disease are poorly understood. Myositis is thought to be caused by environmental triggers in genetically susceptible individuals.

The overall aim of our research is to increase understanding of the causes and pathogenesis of idiopathic inflammatory myopathies, so that we can more clearly define different subgroups of patients, improve disease screening and diagnosis, and improve patient health through targeted treatment and stratified medicine. We have established world-leading national and international scientific and clinical collaborations to enable us to conduct this research, through the UK Myositis Network (UKMyoNet), EU Myositis Network (EUMyoNet) and Myositis Genetics Consortium.

Our research uses complementary clinical, genetic, and serological approaches. Our objectives are: to identify and characterise genetic risk factors in myositis and in the different disease subtypes; to describe and define clinical, genetic and serological profiles in myositis; and to correlate genetic and serological profiles with clinical presentation and outcome in myositis, to more clearly define different subgroups of patients, improve disease screening and diagnosis, and improve patient health through targeted treatment and stratified medicine.

Interstitial Lung Disease

Interstitial Lung Disease (ILD) can lead to significant morbidity and mortality through reduced lung volumes and respiratory insufficiency. There are few effective pharmacological therapies, and the median survival time after diagnosis is very poor. The causes of ILD are largely unknown, but both genetic and environmental factors have been implicated. The overall objective of the UK Biomarkers in Interstitial Lung Disease (UK-BILD) project is to gain better understanding of disease pathogenesis and clinical heterogeneity through serological, genetic and biomarker studies, in order to improve the way we treat affected individuals and to identify new therapeutic targets. Through UK-BILD we are collecting basic clinical and demographic details and blood/plasma samples from ~40 sites across the UK.

Myasthenia Gravis

Research to identify genetic variants influencing susceptibility to myasthenia gravis is being carried out as part of the international Myasthenia Gravis Genetics Consortium (MGGC).

Autism Spectrum Disorders

Janine’s work on understanding genetic susceptibility to autism spectrum disorders has been carried out  as part of the International Molecular Genetic Study of Autism Consortium and the Autism Genome Project (AGP) Consortium; a collaboration of scientists and clinicians from Europe and the United States. Recent AGP research has focused on genomewide association and copy number variant studies using high density single nucleotide polymorphism genotyping, pathway and protein-protein interaction analyses, and whole exome sequencing approaches. Janine’s autism research in Manchester is investigating the role of small non-coding microRNAs in susceptibility to autism, using deep RNA sequencing and computational biology approaches.

Inherited Retinal Disease

Janine’s research on inherited retinal disease to identify diagnostically relevant variants (single nucleotide variants and copy number variants) is being carried out through the Manchester Centre for Genomic Medicine.

Dr Lamb currently supervises four PhD research students researching the genetic basis of idiopathic inflammatory myopathies, autism and inherited retinal disease, and contributes to teaching and learning at both undergraduate and postgraduate levels.



Dr Lamb contributes to teaching and learning at undergraduate, postgraduate and continuous professional development (CPD) levels. She has contributed at Faculty and Institute level through roles on the Faculty Postgraduate Taught Education Committee, Faculty CPD Development Group and as Postgraduate Taught Programme Lead for the Institute of Population Health. Dr Lamb has secured competitive external teaching grants and her excellence in teaching and learning has been recognised by award of Senior Fellowship of the Higher Education Academy.

Dr Lamb contributes to undergraduate teaching through the Medicine programme.

At postgraduate level, Dr Lamb is programme director for the Masters of Research (MRes) in Translational Medicine. This programme provides high quality training to basic science and intercalating medical students to use state-of-the-art biotechnologies to rapidly translate scientific research into improved clinical healthcare.  The programme focusses on integrating and interpreting genetics, genomics, proteomics and metabolomics data across all clinical specialities. Students use the programme as a stepping stone to a PhD, or a career in academic medicine or the pharmaceutical or biotechnology industry.

She has recently supervised PhD students researching the genetic basis of idiopathic inflammatory myopathies, autism and inherited retinal disease.

Memberships of committees and professional bodies

Member of the American Society of Human Genetics

Member of the British Society for Rheumatology

Medical Advisory Board, The Myositis Association, USA

Versus Arthritis, College of Experts


BSc (Honours)


Senior Fellow of the Higher Education Academy (awarded Feb 2015)

Expertise related to UN Sustainable Development Goals

In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):

  • SDG 3 - Good Health and Well-being

External positions

Honorary Senior Lecturer, University of Liverpool

2015 → …

Areas of expertise

  • Q Science (General)
  • Genetics
  • Genomics
  • Aetiology
  • Pathogenesis
  • Disease
  • Idiopathic Inflammatory Myopathy
  • Autism
  • Interstitial Lung Disease
  • Inherited Retinal Disease
  • Population Health
  • Autoimmune Disease
  • Autoantibodies
  • Stratified medicine
  • Precision Medicine

Research Beacons, Institutes and Platforms

  • Digital Futures
  • Lydia Becker Institute
  • Christabel Pankhurst Institute


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Collaborations and top research areas from the last five years

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