Hilde Brems: A better understanding of Legius syndrome
Hilde Brems is the recipient of the Academische Stichting Leuven’s Biomedical Sciences Award, which provides financial support to promising young researchers. Brems’ path to distinction is an exceptional one: she began in 1998 as a laboratory technician working in the Center for Human Genetics. Professor Eric Legius encouraged Brems to stay on staff for another four years to pursue a PhD in biomedical sciences. It is that PhD, now complete, that the Academische Stichting Leuven is recognising. Brems is working temporarily as a researcher at the Erasmus Medical Centre in Rotterdam.
In her PhD, Brems describes the characteristics of Legius syndrome, which was discovered by her doctoral supervisor: "The Legius syndrome is a rare congenital disorder that causes light brown spots – also called café-au-lait spots – on the skin. In addition, patients may have freckles in the armpits and groin. Some children with the disease display attention and learning problems."
"Legius syndrome is often confused with another disease, neurofibromatosis type 1, due to the diseases' similar symptoms. The spots, freckles and learning imparements also present in neurofibromatosis type 1, in addition to benign nodules in the iris of the eye and swelling of nerve casings. In neurofibromatosis type 1 there is a greater chance of developing specific benign and malignant tumours: patients should be monitored carefully. Legius syndrome has a much better prognosis, and thus it is important to distinguish between the two diseases."
Brems and her colleagues discovered an error in the SPRED1 gene in patients with Legius syndrome. "This gene is involved in a chain of proteins that is important for the regulation of cell growth. There are always two copies of a gene present but, when affected by Legius syndrome, one of the copies contains an error. In the pigment cells of the cafe-au-lait spots, both copies of the gene are disabled, causing these cells to be over-active in the body." The same gene also plays a role in the learning process: "The research on mice lacking the SPRED1 gene showed that the mice had more trouble learning. In humans, attention and learning impairment are the biggest worries. The spots and freckles on the skin are harmless. That is why we are focusing further research on developing a medication that addresses the attention and learning problems."