Research Update Spring 2019
by Dr Anne Child, Medical Director
Congratulations to Dr. Alex Wan on being awarded his PhD for discovery of a new gene which causes familial aortic aneurysm. His paper concerning this new gene (LMOD1) has been submitted for publication. The AIMS trial paper has also been submitted for publication and Dr. Child is also writing a paper with Dr. Julene Carvalho from the Brompton Hospital, regarding a new prenatal ultrasound diagnostic feature in Marfan syndrome.
- Research underway at the moment involves Dr. Sanjay Sinha of Cambridge University who is using cell cultures from our patients to test new medicines which may improve Fibrillin production;
- Our collaboration with the University of Montréal regarding scoliosis also continues;
- We have commenced a study at St George’s with the Genetics Research Centre regarding our families with the related condition hypermobile Ehlers Danlos syndrome (painful loose joints). A new gene has been found and this is being verified by Dr. José Aragon Martin and research Technologist Irum Nasrullah. A grant application has therefore been put into the Ehlers Danlos Society based in the US, for a one year student project to look at other families with hEDS;
- Applications for Dr Alex Wan's continuation project to discover further new genes for aortic aneurysm are also being considered; and
- Dr. Aragon Martin is applying for a grant to look at dislocated lens genes.
To support this research, please donate what you can now.