• Genetic mutations pave the way to targeted therapy

    In metastasised or relapsed Ewing sarcoma, therapeutic success is often difficult to achieve. According to a study, this could be due to different biomarker variants.

  • Medical History: Marie Curie on the frontline

    Marie Curie is associated with many subjects, and rightly so: With two Nobel prizes won within eight years of each other, she remains one of the most famous scientists of the 20th century.

  • Rare diagnosis: When general symptoms hide a deeper issue

    Nausea, difficulty swallowing, headache: Such general symptoms can also hide a rare disease. Some important differential diagnoses.

  • These signs on the eye may indicate a rare disease

    Rare diseases are often diagnosed late. Collaboration between disciplines can help to refer affected individuals for possible therapy.

  • Chiara Cumella: Patient, medical student, heroine

    Medical student Chiara Cumella suffers from 13 rare diseases and constantly battles not only her illness, but also for her dream of becoming a doctor.

  • European Health Data Space: Treating rare diseases better?

    Can the creation of a common data space ensure better care for people with rare diseases? This and more was discussed at the Tagesspiegel Expert Forum.

  • XLH - Symptoms and treatment

    A gene mutation can trigger XLH - a rare, life-long progressive disease. Skeletal deformities, dental problems, and microsomia are just some of its many symptoms. How to treat it?

  • Medical Case: Recurrent tonsillitis - What's behind it?

    A young man shows up at emergency with purulent tonsillitis. The examination leads to four suspected diagnoses. Which one would you support?

  • Gene therapy for rare diseases: Where are we now?

    Currently, only a few hundred of the approximately 7,000 rare diseases have an approved treatment option. Gene therapies play a special role, but how far has research progressed?

  • Rare diseases and the issue of biological sex

    A person's biological sex sometimes influences how pronounced a rare disease is. We present some indications and how they differ between the sexes.

  • SPS: muscle cramps, walking difficulties, voice problems

    What if the body no longer does what it is supposed to? The stiff-person syndrome has serious effects on the muscles of those affected. So far, there is no causal therapy.

  • The Unwearable Collection: Fashion Inspired by Rare Diseases

    The fashion collection "The Unwearable Collection" shows what it means to be affected by GPP. The collection visualises the GPP patients' experiences in an innovative awareness campaign.

  • Sudden cardiac death during sport: prevention & diagnosis

    Exercise reduces cardiovascular mortality, but in rare cases sudden cardiac death can occur during exercise. How can this risk be minimised?

  • Skin rashes in babies are not always harmless

    Doctors who treat infants often spot skin rashes, most of which are harmless. But a rare disease also starts like this - and should be recognised quickly.

  • Why upper respiratory infections are more common in cold weather

    Viruses circulate all year round. The fact that there are more people with colds in the cold season has not only to do with staying indoors - but with the temperature in our nose.

  • Assessing cancer risk after biologicals in rheumatological therapy

    Recent data allow a more precise quantification of the malignancy risk of a Janus kinase inhibitor, which has been under discussion for some time.

  • Rare neurological diseases: Setbacks for antisense molecules

    An infant who received personalised RNA therapy for a genetic form of epilepsy died after developing hydrocephalus. The side effect has been reported in other treatments.

  • Psychedelics in psychiatry: can intoxication heal?

    Intoxicating substances are increasingly coming into focus in the treatment of mentally ill people. This upcoming paradigm shift was discussed in a recent neurology congress.

  • ChatGPT: When AI answers medical MCQs

    This "Large Language Model" can generate text. Is this a simple memorization or the beginning of reasoning? When confronted with medical MCQs however, LLMs does show limits.

  • Amyotrophic Lateral Sclerosis: a rare disease, that advances quickly

    ALS, is also called Charcot disease, after the French neurologist who described it, or Lou Gehrig's disease, after a famous baseball player. It is rare and fast, possibly leading quickly to death.

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