Genetic Diagnosis of Rare Diseases: Past and Present

Autors de IIS La Fe

• Julio Hernández Jaras

  Autor

Autors aliens a IIS La Fe

• Ramos-Fuentes, F
• Gonzalez-Meneses, A
• Ars, E

Grups d'Investigació

• Farmacogenética

  Investigador Principal

  María José Herrero Cervera

• Unidad Mixta de Investigación en Nanomedicina y Sensores

  Leader

  Ramón Martínez Máñez

Abstract

Rare diseases are heterogeneous life-threatening or seriously debilitating conditions that affect < 1 in 2000 individuals, and most have a genetic component. The diagnostic process is usually based on classic clinical practices, such as physical examination, personal and family history (inheritance pattern), laboratory tests and image studies, but diagnosis can be delayed several years after the initiation of symptoms. The advances in molecular genetics that have taken place in recent years have led to an important shift in medical practice and in its approach to the diagnosis and treatment of many rare diseases. The objective of this review is to promote a better understanding of the mechanisms underlying genetic diseases in humans and the tools available for their diagnosis. A practical example of X-linked hypophosphataemic rickets is described.

Keywords

• Diagnosis; Genetics; Rare diseases; X-Linked hypophosphataemic rickets