A recent BBC Radio show highlighted the work of Dr. Anne Child on Marfan syndrome. Marfan syndrome is a genetic disorder that affects 1 in 5,000 individuals and has a 0.5% chance of being passed down to offspring. It results from a mutation in the FBN1 gene on chromosome 15, which encodes for fibrillin, a major component of connective tissue. This mutation leads to fibrillin deformities, adversely affecting blood vessels, eyes, lungs, bones, and the heart. Symptoms of Marfan syndrome include cardiovascular and eye disorders, loose joints, high forehead, long limbs, pectus carinatum (a chest wall deformity where the breastbone and ribs are pushed forward), flat feet, a narrow face, and a small and thin jawline. 

While there is no cure for Marfan syndrome, various methods exist to relieve symptoms, avoid additional complications, and prevent future children from being affected. One such preventive method is preimplantation genetic testing, where embryos are screened for genetic mutations before implantation during IVF.

Inspired by a couple concerned about the possibility of their children inheriting Marfan syndrome, Dr. Child embarked on research that led to the identification of the gene responsible for Marfan syndrome. This pioneering work has enabled preimplantation genetic testing for future parents carrying the allele for Marfan syndrome. 

Preimplantation genetic testing is a diagnostic procedure that screens embryos for genetic mutations during early development stages. This analysis of the embryonic genetic code allows for the selection of healthy embryos for implantation, thereby increasing the likelihood of a successful pregnancy and decreasing the likelihood of genetic disorders. Over the years, multiple methods of genetic screening have been developed, with the prevailing method employing a laser-assisted approach. This involves using a laser to open the zona pellucida, followed by a micropipette retrieving cells from the embryo for biopsy.

Furthermore, treatment for Marfan syndrome is not solely preventative. Various methods enable individuals with Marfan syndrome to lead a relatively normal life. For cardiovascular symptoms, patients may be prescribed beta-blockers, angiotensin receptor blockers, and/or anti-inflammatory and pain medications. In severe cases, open-heart aortic surgery may be necessary for thinning aortic walls. This could be accompanied by braces to correct spinal curves and glasses to improve impaired vision. Overall, these treatments, alongside lifestyle changes, can alleviate the symptoms of Marfan syndrome. Thanks to the work of Dr. Child and her team, significant progress has been made, and future advancements may continue to improve the lives of those affected by Marfan syndrome.

Written by Ayanfe

Moderated by Adelene

Dr Anne child (no date) Marfan Trust. Available at: https://www.marfantrust.org/pages/27-dr-anne-child (Accessed: 20 July 2024).

Giuliano, R. et al. (2023) ‘Preimplantation genetic testing for genetic diseases: Limits and review of current literature’, Genes, 14(11), p. 2095. doi:10.3390/genes14112095.

The Life Scientific, anne child on marfan syndrome and love at First Sight (2024) BBC Radio 4. Available at: https://www.bbc.co.uk/programmes/m0020qjj#:~:text=Anne%20Child%20tells%20Jim%20Al,Marfan%20syndrome%20%2D%20with%20enormous%20effect. (Accessed: 19 August 2024).

Marfan syndrome: Causes, symptoms, diagnosis & treatments (2024) Cleveland Clinic. Available at: https://my.clevelandclinic.org/health/diseases/17209-marfan-syndrome (Accessed: 20 July 2024).

Pectus carinatum (no date) Pectus Carinatum | Boston Children’s Hospital. Available at: https://www.childrenshospital.org/conditions/pectus-carinatum#:~:text=Pectus%20carinatum%20is%20a%20deformity,more%20frequently%20affected%20that%20girls. (Accessed: 19 July 2024).

Tttigres (2020) Marfan syndrome and PGD (embryo genetic diagnosis), Instituto Bernabeu – Clínicas de reproducción asistida. Available at: https://www.institutobernabeu.com/en/blog/marfan-syndrome-and-pgd/ (Accessed: 19 July 2024).