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We awarded two research start-up grants in 2021, both projects are now complete and published results will be available shortly via the boxes below. The aim of these grants was to enable researchers to start new research projects on Noonan Syndrome, then use the results to approach larger funders to progress the research further. We also supported a social research project in partnership with Loughborough University, Living with Noonan Syndrome, which looked into the impact of NS on families in their day-to-day lives.

Understanding Learning in Neurofibromatosis type-1 and Noonan Syndrome using Neuroimaging
Understanding Learning in Neurofibromatosis type-1 and Noonan Syndrome using Neuroimaging
This study is for young people who are between 11-17 years old with a diagnosis of NF1 or Noonan Syndrome

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update on lymphatic research
update on lymphatic research
Many research projects start with an initial piece of work that is limited in scope but lays down the foundations for fu

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Discovery of new therapies for hypertrophic cardiomyopathy in RASopathies using hiPSC-based high throughput drug screening platform
Discovery of new therapies for hypertrophic cardiomyopathy in RASopathies using hiPSC-based high throughput drug screening platform
An exciting project with cutting edge technology, likely to lead to potential treatment for cardiomyopathy in NS/ CFC

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Understanding the pathogenetic mechanism of aberrant YWHAZ in cardiofaciocutaneous syndrome
Understanding the pathogenetic mechanism of aberrant YWHAZ in cardiofaciocutaneous syndrome
Identification and characterisation of a new gene in NS (YWHAZ) but also interacts with a secondary pathway to the RAS

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Living with Noonan Syndrome
Living with Noonan Syndrome
Survey and interviews exploring the impacts of living with NS to improve care for people with NS and their families.

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