Meet Dr. Hans Van Veer ! He is the thoracic surgeon who recently operated on our very own number 1 genome participant, Aurelien, when he underwent major surgery to correct his chest wall.

Chest wall deformities such as pectus excavatum and pectus carinatum are frequently encountered in the general population, but they are particularly common among people living with Marfan syndrome and related disorders.

At this 26th annual Chest Wall International Group (CWIG) event it was highlighted that chest conditions are more than cosmetic issues and can have wide-ranging effects on patients, from psychological well-being to musculoskeletal function, lung capacity and even cardiac function.

Thanks to surgeons like Dr Van Veer and opportunities to learn like today’s CWIG event, people with chest deformities, like those stemming from Marfan Syndrome, can hope for better outcomes in complex surgeries like these.

While a surgical intervention was the only option for Aurelien, our hope at 101 Genomes is that tomorrow surgery-free treatments will be made possible through genomic research using large data sets.

So, what do we need now? Genomes to sequence! If you (or anyone you know) has Marfan or Loeys-Dietz Syndrome head to our website!

Learn more about on this issue in this very recent paper available in open access: https://www.sciencedirect.com/science/article/pii/S2666273626003694

Cette publication est également disponible en :