We mark Rare Disease Day 2018 with continued commitment to reduce time to diagnosis of rare diseases.
CENTOGENE has published a scientific paper that further broadens the understanding of a recently identified brain disease, called hypomyelinating leukodystrophies (HLDs) (“Expanding the clinical and genetic spectra of NKX6-2-related disorder,” Clinical Genetics; doi: 10.1111/cge.13221). HLDs are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the brain and therefore are called white matter disease. They are mainly characterized by seizures, developmental delay and intellectual disability.
Using next generation sequencing, we and our international partners were able to characterize new genetic variants in NKX6-2 cases. The two key factors in these rare diseases are the clinical symptoms in larger cohorts and the interaction between the individual mutation and the severity of the disease. Developmental regression is clearly a previously underestimated clinical feature.
“With the continuation from last year, the research focus of the Rare Disease Day 2018 clearly emphasizes that research is the start and basis for every medical routine that follows after. We are heartened that our findings expand on the clinical and genetic understanding of the disease and identified a novel genetic marker associated with this form of HLD,” said Professor Peter Bauer, M.D., CSO of CENTOGENE. “Publications like these highlight the richness of rare disease genetic data captured in our database CentoMD®, the world’s largest mutation database of rare diseases, which can significantly reduce the time needed to diagnose and potentially treat these patients.”