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Rare diseases: Physicians excellent

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This year, the Eva Luise Köhler Research Prize, which is endowed with 50,000 euros, went to a paediatrician Prof. Dr. Heymut Omran from the Department of Pediatrics and Adolescent Medicine at the University Hospital in Münster. His project “Improving the diagnosis and therapy of primary ciliary dyskinesia (PCD)” is dedicated to research into primary ciliary dyskinesia, a rare lung disease in children which, if diagnosed too late, can lead to severe lung damage and ultimately lung failure. With the help of a genetic study and a protein study, Omran’s team was able to identify 30 characteristic defects that lead to PCD.

The pediatrician, who works at the Berlin Charité, received the award for his project “Universal newborn screening for sickle cell diseases using tandem mass spectrometry”. Dr. Stefan Lobitz the recognition award endowed with 15,000 euros. With his research in the field of sickle cell anemia, Lobitz and his team are investigating how the blood disease can be reliably diagnosed in newborns. An early diagnosis can help parents to recognize signs of acute anemia in good time and thus save lives.

At the award in the Berlin Charité attended next Eva Luise Kohler also her husband, former Federal President Prof. Dr. Horst KöhlerFederal Research Minister Prof. Dr. A.S. Johanna Wanka and Federal Minister of Health Hermann Grohe part.

background information

The Eva Luise Köhler Research Award is an initiative of the Eva Luise and Horst Köhler Foundation, in cooperation with the Alliance of Chronic Rare Diseases (ACHSE eV).

The National Action Alliance for People with Rare Diseases (NAMSE) – an association of the Federal Ministry of Health, the Federal Ministry of Education and Research and ACHSE eV – was founded on the initiative of the Federal Ministry of Health. In 2013, the alliance published a national action plan for people living with rare diseases. The aim of the plan, which includes 52 proposed measures, is to better inform those affected, their families and medical staff about rare diseases, to advance research in the field and to strengthen the expansion of medical care structures.

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