Medical Scientists #143: How Common Are Rare Diseases?

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Today, science recognizes approximately 7,000 diagnoses that are classified under the collective term rare diseases. Most of them are genetic and hereditary, and developments in recent years, for example, in the field of DNA sequencing, have increased the possibilities for researchers and clinicians to find the right treatment for the right patient.

In Episode 143 of the popular Karolinska Institutet Medicinvetarna scientific podcast, Professor and Chief Physician Anna Wedel talks about her research and mentions a revolutionary case in which the health of a six-year-old girl improved dramatically as a direct result of the researchers' work.

– Thanks to our understanding of the mechanism and biochemical processes in the brain that caused her illness, we were able to suggest a special nutritional treatment. The result was absolutely amazing! After just lying down without calling, she gradually began to sit and play, and could smile and answer calls. She says it has of course been a huge improvement in the quality of her life and that of her family.

Anna Wedel is Professor at the Department of Molecular Medicine and Surgery and Research Group Leader of the Congenital Endocrine and Metabolic Diseases Group. She is also a senior physician in Center for Congenital Metabolic Diseases At Karolinska University Hospital.

She is also a director BMC – Karolinska Precision Medicine Centre, a virtual precision medicine center jointly managed by Karolinska Institutet and Karolinska University Hospital. Its mission is to bring precision medicine into everyday healthcare.