Professor Julian Sampson is awarded 2017 Manuel R. Gomez Award

The TSA
would like to send huge congratulations to Professor Julian Sampson who has
been awarded the 2017 Manuel R. Gomez Award.

Professor
Sampson received this award on Thursday 22 June 2017 at the US TS Alliance and
LAM Foundation ‘2017 International Research Conference on TSC
and LAM: Innovating Through Partnerships’ in
Washington DC.

The Gomez Award is presented by
the TS Alliance. It is given in memory of Manuel R. Gomez, MD, the “Father of TSC” in the
USA. Dr Gomez sparked interest in the diagnosis and clinical care of
individuals with TSC.

The Gomez
Award is given in recognition of those who have made a significant impact on
the understanding of TSC in research and/or impacted the delivery of clinical
care for individuals with TSC. It is voted upon by previous recipients of the
award.

Professor
Sampson is a clinical geneticist working at the School of Medicine, Cardiff
University, where he is Head of the Institute of Medical Genetics and Director
of the Division of Cancer and Genetics and with the NHS All Wales Medical
Genetics Service. He has led the development of the multidisciplinary TSC
clinic in Cardiff and has been at the forefront of improving access to TSC
medicines in Wales. He
is also lead for the Welsh Genes Park. The Gene Park promotes and
facilitates Welsh medical genetic and genomic research and educates and informs
the public and health professionals about the issues and opportunities this
raises.

His
interests are in the clinical and molecular genetics of disease and tuberous
sclerosis is a major focus for his research.

Professor Sampson led the international consortium that identified TSC2 and worked as a member of the consortium that identified TSC1. He made the first reports of contiguous deletion of TSC2 and PKD1 in patients with tuberous sclerosis and polycystic kidney disease and undertook genotype-phenotype studies including the first report of differential severity of TSC1 and TSC2-associated disease.

He subsequently led a team of researchers in Cardiff working on the cell biology of TSC, pre-clinical trials in transgenic mouse models and clinical trials. Much of his team’s work is funded by the TSA. Major work includes the TESSTAL and TRO trials of mTOR inhibitors in angiomyolipoma and neurocognitive function in TSC. His group provided DNA diagnostics for TSC for over 20 countries and made a major contribution to the catalogue of genetic variatin on the TSC1 and TSC2 mutation databases run out of University College London and jointly funded by the TSA.

Alison
Cooper, Head of Research at the TSA said of the award:

“The Association is so
very pleased to hear of this award to Professor Sampson. His role in discovery
of the genetic basis of TSC secured the basis of our knowledge about the
disease and enabled the developments in diagnostics and treatment we have
today. The ongoing research he leads out of Cardiff is helping to shape the
diagnostics and treatments of tomorrow. The TSA is also enormously grateful
for the support it receives from Julian and his dedication to TSC patients in
Wales”