Rare genetic diseases

Rare genetic diseases are conditions with very low prevalence, sometimes involving only a few patients worldwide. This makes it extremely challenging to develop treatments, as clinical trials are not feasible with so few patients, and pharmaceutical companies lack commercial incentive to fund the research. Some of these diseases are extremely severe, causing children to die within days or months, while others gradually impair specific abilities such as vision, hearing, or mobility.

However, collectively, rare diseases are not so rare. It is estimated that in Israel alone, half a million people suffer from rare genetic diseases, accounting for 6-8% of the population – more than the number of patients with cancer, Parkinson's, and Alzheimer's combined. Globally, the number of patients with rare genetic diseases exceeds 300 million. Yet, with approximately 7,000 different diseases identified, and many more still undiagnosed, most of them remain largely unstudied.

Treating rare diseases: Dr. Einat Zalckvar cracks the peroxisome