{"id":4367,"date":"2018-06-08T18:49:23","date_gmt":"2018-06-08T16:49:23","guid":{"rendered":"https:\/\/f101g.org\/individuals-carrying-the-same-mutation-can-have-a-wide-range-of-phenotypes-by-aline-verstraeten-uza\/"},"modified":"2018-06-08T18:49:23","modified_gmt":"2018-06-08T16:49:23","slug":"individuals-carrying-the-same-mutation-can-have-a-wide-range-of-phenotypes-by-aline-verstraeten-uza","status":"publish","type":"post","link":"https:\/\/f101g.org\/en\/individuals-carrying-the-same-mutation-can-have-a-wide-range-of-phenotypes-by-aline-verstraeten-uza\/","title":{"rendered":"\u201cIndividuals carrying the same mutation can have a wide range of phenotypes\u201d by Aline Verstraeten, UZA"},"content":{"rendered":"

1. Could you please introduce yourself?<\/strong><\/strong><\/strong><\/p>\n

My name is Aline Verstraeten. I’m a postdoctoral researcher at the University of Antwerp. I first did a PhD on Parkinson’s disease, then moved on to research on aortic pathologies. I’m focusing on the search for new genes for syndromic thoracic aortic aneurysm and on the search for modifier genes for syndromic forms of aneurysm such as Marfan syndrome. I am a laboratory scientist (” Wet-lab<\/em> “) and not a clinician.<\/p>\n

2. Can you explain the 101 Marfan Genomes Project?<\/strong><\/p>\n

The project involves finding genetic factors that may explain why some people are very severely affected and others mildly so, which is very important for patients because individuals with the same mutation can have a wide spectrum of phenotypes and it is important to know which patients to follow more closely as they are more likely than others to have a lethal dissection.<\/u>.<\/p>\n

3. Why did you agree to join the Scientific Committee of the 101 Marfan Genomes Project?<\/strong><\/p>\n

I think it’s very important for many people to come together to advance research into Marfan syndrome. There are several people in Belgium working on Marfan syndrome, but also in the Netherlands, France and elsewhere. I think that a collaboration like this, where patients are involved, where researchers are involved, can only advance research. I also think it’s important that different levels of scientists are involved, such as laboratory researchers and clinicians, and that different types of knowledge are brought together.<\/p>\n

4. As a scientist, what do you expect from the 101 Marfan Genomes Project?<\/strong><\/p>\n

I hope we can find the genetic modifiers we’re looking for. If we succeed, it will give us a better understanding of the mechanisms underlying the disease, and provide us with new leads that we can specifically target to find new therapies. If we find a genetic factor that explains why some people are only mildly affected, we could specifically stimulate this factor in severely affected patients and try to improve their phenotype or even limit the risk of fatal aortic dissections.<\/p>\n

5. What is the key element for you that makes the 101 Marfan Genomes Project important for Marfan patients? And for other rare diseases?<\/strong><\/p>\n

For Marfan patients, as I’ve already said, I think it’s important for their vital prognosis. And more generally, it’s true that, in the context of rare diseases, it’s important to bring together all the knowledge and all the patients in one large group, because if the disease is rare, it’s difficult to find interesting leads. I am therefore convinced that this kind of project can serve as an example for other rare diseases, and that other researchers can draw inspiration from the approaches adopted here and the way in which several people from different disciplines are collaborating on this project.<\/p>\n

Ms Aline Verstraeten, PhD
\n<\/strong>Cardiogenetics, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium<\/strong><\/p>\n

 <\/p>\n

[embedyt] https:\/\/www.youtube.com\/watch?v=JquOpaZH-nY[\/embedyt]<\/p>\n

 <\/p>\n

[embedyt] https:\/\/www.youtube.com\/watch?v=47vXumhG2fM[\/embedyt]<\/p>\n","protected":false},"excerpt":{"rendered":"

1. Could you please introduce yourself? My name is Aline Verstraeten. 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