|
Birgit LANE
How Keratins hold us together! |
Abstract
In this presentation I would like to discuss two very different examples of rare genetic skin diseases, which my collaborators and I have worked on over the last ten years. All rare disease studies start with recognizing the clinical phenotype by experienced and perceptive clinicians and then identifying the underlying genetic defects using modern laboratory methods. To then find out how the mutation lead to the clinical defect usually necessitates creation of disease-mimetic laboratory tissue culture models (with varying success). Such models may then allow us to design specific assays, to identify and test potential curative therapy approaches. The different characteristics of these diverse rare genetic diseases fundamentally affects the way we can study them, and the type of positive outcomes we may be able to hope for. Whatever we can find out, whatever new therapies we can develop in Singapore, the tremendous power of rare disease studies is only possible with a trans-national team of clinical collaborators.
In this presentation I would like to discuss two very different examples of rare genetic skin diseases, which my collaborators and I have worked on over the last ten years. All rare disease studies start with recognizing the clinical phenotype by experienced and perceptive clinicians and then identifying the underlying genetic defects using modern laboratory methods. To then find out how the mutation lead to the clinical defect usually necessitates creation of disease-mimetic laboratory tissue culture models (with varying success). Such models may then allow us to design specific assays, to identify and test potential curative therapy approaches. The different characteristics of these diverse rare genetic diseases fundamentally affects the way we can study them, and the type of positive outcomes we may be able to hope for. Whatever we can find out, whatever new therapies we can develop in Singapore, the tremendous power of rare disease studies is only possible with a trans-national team of clinical collaborators.
Bio
Professor Birgitte Lane’s research career has been distinguished for her contribution to the understanding of the structure and function of the keratin cytoskeleton, the subcellular system of nanofilamentous proteins that give tissues their resilience and strength, with special focus on the biology of the skin. She pioneered the development and use of monoclonal antibodies to keratins as markers of differentiation in health and disease, and key tools in diagnostic pathology. She established the link between keratin gene mutations and human skin fragility diseases, and led a team that identified the basis of more than 15 distinct inherited skin disorders. Her team became a central reference point in this field and a leading laboratory for generating and supplying reagents to the broader community. Her recent studies on the cellular effects of these mutations are suggesting entirely new approaches to therapy for incurable genetic skin fragility conditions. After the beginnings of her research career in London and its development in Scotland, she went on to establish a third successful research team in Singapore. She brought her research programmes on skin cancer and rare genetic skin diseases to the Centre for Molecular Medicine, later the Institute of Medical Biology and now the Skin Research Institute of Singapore, and these programmes formed the start of the growth of skin research in Singapore. She continues to be seen as a thought-leader in her field and is in demand as a speaker at international conferences. She has trained and mentored several internationally prominent scientists including Professor Xin Lu FMedSci (Director, Ludwig Institute, Oxford) and Professor Irwin McLean FRS FMedSci (Univ. Dundee).
In parallel to her research activities, Birgit Lane has played a key role in the international scientific community through her work with significant research evaluation and strategy committees (UK’s Research Assessment Exercise, Wellcome Trust, Lister Institute, Cancer Research UK, and professional societies such as the British Society for Cell Biology) and led the development of research institutions in the UK and Singapore. She played a key role in establishing the Wellcome Trust Biocentre at the University of Dundee and led the formation of the Division of Cell and Developmental Biology at the University of Dundee in the 1990s. Coming to Singapore in 2005, she joined A*STAR to help build the Biomedical Sciences initiative, founding A*STAR’s Institute of Medical Biology in 2007, followed by the Skin Research Institute of Singapore in 2013. She headed IMB for 12 years and developed it into one of Singapore’s most successful research institutes with a strong international reputation. She subsequently led IMB’s evolution to SRIS, which is now widely seen as the strongest translational skin research cluster world-wide. Beyond A*STAR, she established an academic society for skin research in Singapore, the Skin Research Society (Singapore), and helped establish a patient advocacy group, Debra Singapore, with whom she works for the patient community affected by epidermolysis bullosa.
Professor Birgitte Lane’s research career has been distinguished for her contribution to the understanding of the structure and function of the keratin cytoskeleton, the subcellular system of nanofilamentous proteins that give tissues their resilience and strength, with special focus on the biology of the skin. She pioneered the development and use of monoclonal antibodies to keratins as markers of differentiation in health and disease, and key tools in diagnostic pathology. She established the link between keratin gene mutations and human skin fragility diseases, and led a team that identified the basis of more than 15 distinct inherited skin disorders. Her team became a central reference point in this field and a leading laboratory for generating and supplying reagents to the broader community. Her recent studies on the cellular effects of these mutations are suggesting entirely new approaches to therapy for incurable genetic skin fragility conditions. After the beginnings of her research career in London and its development in Scotland, she went on to establish a third successful research team in Singapore. She brought her research programmes on skin cancer and rare genetic skin diseases to the Centre for Molecular Medicine, later the Institute of Medical Biology and now the Skin Research Institute of Singapore, and these programmes formed the start of the growth of skin research in Singapore. She continues to be seen as a thought-leader in her field and is in demand as a speaker at international conferences. She has trained and mentored several internationally prominent scientists including Professor Xin Lu FMedSci (Director, Ludwig Institute, Oxford) and Professor Irwin McLean FRS FMedSci (Univ. Dundee).
In parallel to her research activities, Birgit Lane has played a key role in the international scientific community through her work with significant research evaluation and strategy committees (UK’s Research Assessment Exercise, Wellcome Trust, Lister Institute, Cancer Research UK, and professional societies such as the British Society for Cell Biology) and led the development of research institutions in the UK and Singapore. She played a key role in establishing the Wellcome Trust Biocentre at the University of Dundee and led the formation of the Division of Cell and Developmental Biology at the University of Dundee in the 1990s. Coming to Singapore in 2005, she joined A*STAR to help build the Biomedical Sciences initiative, founding A*STAR’s Institute of Medical Biology in 2007, followed by the Skin Research Institute of Singapore in 2013. She headed IMB for 12 years and developed it into one of Singapore’s most successful research institutes with a strong international reputation. She subsequently led IMB’s evolution to SRIS, which is now widely seen as the strongest translational skin research cluster world-wide. Beyond A*STAR, she established an academic society for skin research in Singapore, the Skin Research Society (Singapore), and helped establish a patient advocacy group, Debra Singapore, with whom she works for the patient community affected by epidermolysis bullosa.
Attendance is free but registration is required.