Hennekam R.C.M.: Diagnostics and care for rare disorders

a. Diagnostics: these concern both clinical diagnostic procedures and molecular techniques and include next generation sequencing techniques (total exome sequencing; total genome sequencing; total methylome sequencing)

b. Care: these include translational medicine studies; natural history studies; use of modern media in informatics to patients

c. Support work: these include nomenclaturestudies; ontologies; implementation of next generation sequencing in patient care