Rare disease day 2023: Surprises & challenges in rare disease research

On Rare Disease Day 2023, Prof. Carole Linster from the Luxembourg Centre for Systems Biomedicine (LCSB) of the University of Luxembourg reflects on her team's work on metabolite repair disorders, a subset of the over 7,000 rare diseases identified to date. Most of these diseases have a genetic background, and an estimated 300 million people globally are affected, including 30,000 in Luxembourg alone. Prof. Linster's group focuses on (neuro)metabolic conditions caused by the accumulation of harmful waste products due to malfunctioning cleanup mechanisms. Prof. Linster shares how her team got into rare disease research, a recent surprising discovery and why collaboration is essential to tackle the many challenges in this field of research. How did you and your team get into rare disease research? At heart, we are a biochemistry team working on discovering novel enzyme activities. Even though we know the complete human genome sequence since 2001, there are still thousands of genes with unknown functions, including many enzyme-encoding genes. Together with multiple international collaborators, we could link some of the novel enzymes we discovered to human diseases.