Cystic fibrosis is one of the most common life-shortening diseases. It is based on a genetic modification of the CFTR gene. In Germany, up to one in 3,300 newborns is affected by it. Patients are increasingly experiencing respiratory problems throughout their lives. Apart from the lungs, other organs are usually also affected. There is still no therapy that fights the cause of the disease, however, medical progress in recent years has led to a significant improvement in quality of life and life expectancy. Patients today reach the age of 40 years on average (median).

Spinal muscular atrophy (SMA) occurs in approximately one in 6,000 newborns and is most often caused by a missing or altered SMA1 gene. The disease is caused by the fact that nerve cells which regulate muscle activity are not formed correctly. As a result, children affected with SMA experience progressive muscle deterioration and are increasingly restricted in their ability to move. Particularly serious are the limitations in the muscles that are needed for breathing and swallowing. Depending on the type, the disease can be found in infants (type 1 and type 2) or adults (type 3). Life expectancy for children with type 1 and 2 is only a few years, for patients with type 3 it is only slightly reduced. New medications are becoming available, which promise a causal therapy if the disease is diagnosed already early on.

Hemoglobinopathies are diseases that affect the formation of the red blood pigment hemoglobin. The diseases are more common in the Mediterranean, the Middle East and Africa, but their number is steadily increasing in Europe. In Berlin and Hamburg, for example, one of 2,400 newborns has been affected in recent years. The most common hemoglobinopathies, sickle cell disease, and α- and β-thalassemias are caused by altered hemoglobin molecules, which can lead to multiple organic lesions. Depending on the severity of the condition, the quality of life of the patients may be severely limited and their life expectancy significantly reduced.