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February 29 is International Rare Disease Day / The Freiburg Center for Rare Diseases pools the expertise of 20 clinics to provide optimal patient care / Three patient examples

Around four million people in Germany suffer from a rare disease, most of them children. The majority of the approximately 8,000 diseases worldwide can still only be treated symptomatically or not at all. Since it was founded in 2009, the Medical Center - University of Freiburg's Center for Rare Diseases (FZSE) has pooled medical, scientific and nursing expertise in this field, making it a point of contact for around 10,000 patients every year. Three examples - at the level of the genome, the metabolism and an entire organ - show the particular challenges and successes in the fight against rare diseases.

Against all odds: Suffering from a single rare disease is unusual enough. This is because a disease is described as "rare" if it affects fewer than one in 2,000 people. In 2015, researchers at the Medical Center - University of Freiburg found three rare diseases in a 16-year-old girl. She suffered from elevated cholesterol levels, magnesium deficiency and hypothyroidism due to hereditary factors. The team led by Prof. Dr. Anna Köttgen, Head of the Department of Genetic Epidemiology at the Institute of Medical Biometry and Statistics at the Medical Center - University of Freiburg, and PD Dr. Ekkehart Lausch, Head of the Pediatric Genetics Section at the Department of General Pediatrics and Adolescent Medicine at the Medical Center - University of Freiburg, used an analysis of the entire genome to prove that a single gene mutation was not responsible for the complex symptoms in the family - as is usually the case - but that three independent, rare diseases were present at the same time. A personalized drug therapy was immediately started for the hereditary high cholesterol level: with success. This would not have been possible without the genetic information provided by the specialists at the Freiburg Center for Rare Diseases.

Normal skin after decades of illness: In CHILD syndrome, cholesterol formation in the skin is defective, resulting in large areas of inflamed, weeping and scaling skin. Dr. Dimitra Kiritsi and Prof. Dr. Cristina Has, both physicians at the Department of Dermatology and Venereology at the Medical Center - University of Freiburg, have developed an ointment based on the latest scientific findings and in collaboration with the Skinitial research center and the pharmacy at the Medical Center - University of Freiburg, which for the first time achieves a significant improvement in symptoms. The ointment contains statins, which largely inhibit the skin's impaired cholesterol formation. The cream also contains functional cholesterol, which the skin cells can then use to build up the skin normally. The therapy leads to the disappearance of the inflammatory changes that have been present in patients for decades within a few weeks and can therefore greatly improve their quality of life.

Vitamins instead of bone marrow transplantation: A three-month-old infant was referred to the Medical Center - University of Freiburg. He was suffering from a lack of weight gain, fungal plaque in his mouth, constant coughing, diarrhea and fever. The symptoms were indicative of a severe congenital immune deficiency. Two siblings had already died at the age of three months from severe infections and anemia. A bone marrow transplant should therefore be carried out as quickly as possible. However, a team led by Prof. Dr. Stephan Ehl, Medical Director of the Center for Chronic Immunodeficiency at the Medical Center - University of Freiburg, proved that the boy suffered from a disorder in the vitamin metabolism for folic acid. Without sufficient folic acid, neither immune cells nor other blood cells can develop properly. Such a transport defect for the vitamin folic acid has only been detected in a few patients worldwide. With this knowledge, a suitable therapy could be found. All preparations for the transplant were discontinued. The infant received folic acid infusions and after just a few days his blood formation recovered, within four weeks all immune functions were normal and the infections were cured.

Contact:
Medical Center for Rare Diseases
Uniklinik Freiburg
fzse@uniklinik-freiburg.de
www.uniklinik-freiburg.de/fzse