From Left, Renè Haegerling (BIH Center for Regenerative Therapies and the Institute of Medical and Human Genetics at Charité – Universitätsmedizin Berlin.), Professor Miika Vikkula (de Duve Institute, University of Louvain, Brussels), Willenijn Klein (Associate professor in paediatric radiology at the Radboud University Medical Center and Amalia Children’s Hospital in Nijmegen, the Netherlands), Hans Schoofs (PhD Student, Uppsala University, Sweden) and David Williams
Genetic causes of complex lymphatic anomalies, patient centred research and registries, preclinical models of CLA’s, clinical advances, new technologies for CLA research, and advances in imaging were
all areas of discussion during the conference. So, everything was covered on how these diseases occur, what genes may cause what mutations and what drugs may be effective for what mutations. This conference was the first where I heard it reported that some of the gene mutations were germline and others were somatic. (germline affects ever cell in the body, but somatic mutations only affect some areas of the body). Once the patient’s genotype is discovered then there is the opportunity for targeted medications which is excellent news for the patient. There were also talks on how new techniques are helping find the gene mutation as this is not at all easy for somatic mutations.
Other researchers are using zebrafish to research the genetic defects. The great thing about zebrafish is the eggs are fertilised and grown outside the body so they are easily studied for genetic defects in early life. Other researchers are focusing on cutting edge imaging of the patient so that the treating doctors can see what is happening with the flow of lymph fluid in the lymphatic system. They can build 3-D models and help guide surgeons to areas where interventions are needed. Several doctors spoke about treating babies before they were born due to the diagnosis and imaging of the disease in the womb.
The overall takeaway from the conference is that there is a lot of exciting new research in the area of complex lymphatic anomalies, but the teams are coming together to discuss their research and knowledge. They acknowledge that CLA’s are really complex in their treatment, and it needs a multidisciplinary approach with each speciality having a voice. And that more and more is being discovered that will aid all the patients in the future. For members of LDGA-EU it is great to see that our efforts to support research and assisting in funding researchers and conferences such as these are vital to progress our goals to reach for that cure for every patient.
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