This page introduces the key researchers who are candidates to receive funding from the VHL UK/Ireland charity raised by donations and fundraising activities. It is not always realised that research into our conditions can have far-reaching benefit into the wider community. A good example is understanding cell metabolism pathways. At the moment all research activity into the genetic conditions supported by us is conducted in mainland UK. However if you are aware of any other suitable research activity please email us.
Eamonn R. Maher
M.D., FRCP, FMedSci, Professor of Medical Genetics and
Genomic Medicine, University of Cambridge, UK
Research is conducted into VHL, HLRCC and BHD.
William Drake
Consultant Physician/Professor of Clinical Endocrinology at St Bartholomew’s Hospital.
Ian Tomlinson
BA MA Ph.D. Camb, BM Brist, BM BCh Oxf, Professor of
Molecular and Population Genetics, Nuffield Department
of Medicine Oxford, UK The identification of Fumarate Hydratase (FH) gene being responsible
for HLRCC is widely referenced in Germline mutations in FH
predispose to dominantly inherited uterine fibroids, skin
leiomyomata and papillary renal cell cancer (Tomlinson IP et al., 2002 )
Eyal Gottlieb
BSc., MSc., Ph.D., Research Group Leader, Beatson Institute
of Cancer Research, Glasgow, Scotland, UK
Past Donations £10,000 and Grant Awards £175,000 made by the charity
VHL UK/Ireland has made these donations so far for laboratory equipment and project grant awards for VHL research.
Study of molecular mechanisms involved when VHL patients undergo belzutifan (Welireg) therapy.
VHL UK Ireland has granted £35,000 to Professor William Drake Consultant Physician/Professor of Clinical Endocrinology at St Bartholomew’s Hospital. An overview from Professor Drake:“Our research endeavours focus on the intricate …
UK Registry for VHL disease and other Inherited kidney tumour syndromes
VHL UK Ireland has granted £60,000* to Eamonn Maher, Head of the Department of Medical Genetics to establish a national registry for VHL disease and related disorders. After a rigorous …
100,000 genomes project VHL study
VHL UK Ireland has granted £60,000* to Eammon Maher, Head of the Department of Medical Genetics for this study which is paramount to the understanding of genetic conditions such as …
Published Articles from the 100,000 genomes project VHL study
The VHL Alliance published in its Summer 2022 Newsletter an overview: ALTERATIONS IN THE ELOC GENE MAY CAUSE VHL DISEASE By Dr. Amit Tirosh, Sheba Medical Center. “The diagnosis of …
Saturation Genome Editing to Define Genotype/Phenotype Relationships in VHL Disease
VHL UK Ireland has granted £20,000 to Professor William Drake Consultant Physician/Professor of Clinical Endocrinology at St Bartholomew’s Hospital. Some snippets taken from the project description.Saturation genome editing (SGE)is a …
£4,995 donation for a L20001 Luna FL Automated Fluorescence Cell Counter
Our £4,995 donation was spent by Eammon Maher, Head of the Department of Medical Genetics, Cambridge for a L20001 Luna FL Automated Fluorescence Cell Counter. This was the thank you …
£5,000 donation towards a Biorad Zoe fluorescent imager
Our £5,000 donation was spent by Eammon Maher, Head of the Department of Medical Genetics, Cambridge towards a Biorad Zoe fluorescent imager. This was the thank you the charity received: …