The Sonalee Laboratory
In September 2000 the Sonalee Laboratory was opened at St. George’s,University of London.
The laboratory was named after Dr Sonalee Wijetunge, a St. George’s Hospital graduate, who died from Marfan syndrome.
The laboratory regularly receives samples from UK families and sometimes from all over the world, and it has achieved an enviable 91% success rate in mutation detection in classic Marfan syndrome.
The lab has access to an ABI Sequencing Genetic Analyser (3130xl), which enables the research team to screen patients and their families for mutations (gene errors) in the Marfan gene. Once a mutation has been identified, it can be used for diagnostic screening of at-risk family members, so that preventive therapy can be offered at the optimum time, thus improving the quality and quantity of life expectancy.
The effect of every mutation in the gene tends to be different for each family and for different patients in the same family. The lab is trying to make sense of this last statement.
Marfan syndrome and Related Disorders Research Group
Our cardiovascular genetics team led by Dr Anne Child and Dr Jose Antonio Aragon-Martin is largely funded by the Marfan Trust, a small charity, formed with the intention of creating awareness of Marfan syndrome (MFS) and related disorders like Thoracic Aortic Aneurysm & Dissection (TAAD) and Ectopia Lentis (EL) just to mention some of them. Research patients (children and adults) with variable phenotypic spectrum provide samples. Those who are negative for FBN1 screening are placed in further projects investigating overlapping syndromes or conditions.
Our internationally recognised diagnosis and management clinical program for Marfan syndrome and related conditions is provided in partnership with the cardiology, medical genetics and cardiac surgery departments. Prenatal diagnosis and pre-implantation genetic diagnosis are available. Holistic care is provided through a network of experienced clinicians in all specialities.
Suitable patients aged between 6 - 40 years are recruited for a nationwide BHF-funded medication trial of Irbesartan (AIMS trial) involving 21 UK Marfan syndrome clinics.
Deep phenotyping of TAAD patients provides the largest collection of UK families for the study (exome sequencing).
Patients with Marfan syndrome and related disorders (Ectopia Lentis, Thoracic Aortic Aneurysm & Dissection, Scoliosis, etc) are encouraged to contact Dr Jose Antonio Aragon-Martin at the Sonalee Laboratory. Email us to find out more about how you can help firstname.lastname@example.org
Key achievements – Sonalee Laboratory
Present studies – Mutation screening by Sanger sequence
- Marfan syndrome (FBN1)
- Ectopia Lentis (ADAMTSL4)
- Thoracic Aortic Aneurysm & Dissection (TGFBR1/2, ACTA2, SMAD3, PRKG1, TGFB2).
- We are at present studying Thoracic Aortic Aneurysm & Dissection (TAAD) patients to discover new genes by exome sequencing.
- We are also using different strategies to study genotype-phenotype association in Marfan syndrome patients.
- We are planning 2 new projects for the near future using exome sequencing to discover new genes in Ectopia Lentis (EL) and Scoliosis.
Involvement with the scientific communityWe host and train:
- BSc, MSc and PhD students from St George’s, University of London.
- National/International students from other universities (job experience, BSc, MSc, PhD).
We collaborate with other groups:
Professor Dianna M. Milewicz (USA) re TAAD; Professor Mansoor Sarfarazi (USA) re Glaucoma; Dr Florina Moldovan (Canada) re Scoliosis.
Professor Mike Simpson (Guy’s Hospital, London) re TAAD & Scoliosis, Mr David Charteris (Moorfields Eye Hospital, London) Ectopia Lentis.
As well as writing papers in journals, and book chapters, we present our work at international conferences where the scientific community come to debate and share ideas (American Society of Human Genetics [ASHG], Association for Research in Vision and Ophthalmology [ARVO], Marfan Related International Research Symposium, International Congress of Human Genetics [ICHG]).