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Rare Diseases

By definition, a disease is classified as "rare" if no more than 5 out of 10,000 people suffer from it. Worldwide, about 350 million people are affected by a rare disease. There are between 6,000 and 8,000 rare diseases worldwide.

Our responsibility

Rare diseases are usually characterized by very complex clinical pictures. 80% of these so-called orphans of medicine are inherited, are rarely curable and run a chronic course. In particular, the small number of patients suffering from a rare disease and their individual differences make it difficult to conduct studies. The situation is further aggravated by the fact that those affected are usually unaware that they suffer from a rare disease and that a diagnosis is often made late. Thus, these diseases represent a great challenge for medicine and research. We see it as our responsibility to show ways of treatment and care in order to reliably help those affected.

Our focus

Classified as a Rare Disease, but one of the most common genetic urinary stone diseases is Cystinuria. The disease is inherited in an autosomal recessive or semidominant manner with a mean prevalence of 1:7000 and accounts for approximately 1-2% of adult urinary stone disease and up to 10% of pediatric urinary stone disease. In over 80% of those affected, the disease becomes apparent in the first two decades of life. Early diagnosis and therapy can significantly improve the clinical picture of Cystinuria and the associated risks.

https://globalgenes.org/rare-facts/ (Abruf 30.03.2021)
https://www.awmf.org/uploads/tx_szleitlinien/043-025l_S2k_Diagnostik_Therapie_Metaphylaxe_Urolithiasis_2019-07_1.pdf (Abruf 30.03.2021)
https://www.bundesgesundheitsministerium.de/themen/praevention/gesundheitsgefahren/seltene-erkrankungen.html (Abruf 30.03.2021)
Chuang TF, Hung HC, Li SF, Lee MW, Pai JY, Hung CT. Risk of chronic kidney disease in patients with kidney stones-a nationwide cohort study. BMC Nephrol. 2020 Jul 22;21(1):292. doi: 10.1186/s12882-020-01950-2. PMID: 32698782; PMCID: PMC7376912.
Font-Llitjós M, Jiménez-Vidal M, Bisceglia L, et al. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. J Med Genet. 2005;42(1):58-68. doi:10.1136/jmg.2004.022244