Forskning
Udskriv Udskriv
Switch language
Klinisk Genetisk Klinik - en del af Københavns Universitetshospital
Vis graf over relationer

Organisationsprofil

Aims and objectives

Concerning genetics of hearing impairment and dual sensory impairment (deaf blindness) the aims are to establish the underlying etiology in diagnostic setting and by means of research oriented approaches. Genetic counselling is provided in all diagnostic cases.

Ultimately, the aim is to provide a deeper basic understanding of the different mechanisms behind sensory deficiency , hopefully leading to efforts to develop advanced therapeutic measures.

Focus areas

Our focus is on identifying the molecular genetic causes behind the large proportion of deafness/hearing impairment being genetic in origin

Disciplines, methods and tools

The approach is combining close interaction with Audiology, dysmorphology, endocrinology and other medical specialities from which our patients and research individuals have abnormalities.

The use of next generation sequencing (NGS), both in targeted gene panels and in wider whole exome and whole genome sequencing (WES and WGS).

 

Kontaktinformation

ID: 32707808