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Rigshospitalet - en del af Københavns Universitetshospital
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Expertise

Clinical Genetics; rare diseases

Primære forskningsområder

Phd. Project "Rett-like childhood syndromes - identification of disease causing genes and mechanisms a clinical and a molecular study"

Aktuel forskning

Rett syndrome (RTT) is a severe intellectual disability disorder that affects young girls. Symptoms are e.g. loss of speech and hand use and development of hand stereotypies. Today we know MECP2, CDKL5 and FOXG1 as causative genes of RTT.   

Some patients might have characteristic clinical RTT symptoms but do not fulfill the clinical diagnostic RTT criteria or have a mutation in the known RTT genes; they are “Rett-like”. These patients often remain without a clear clinical and genetic diagnosis. Getting a correct diagnosis is often a huge wish for the families because it can possibly provide them with an explanation, prognosis, cause-related treatment, and risk-assessment and maybe prenatal diagnostics in future pregnancies.

In recent years, new advanced techniques within the field of clinical genetics have been developed. In the Danish National Rett Center we have collected a cohort of 50 Rett-like patients that remains without a correct diagnosis on these patients we wish to collect clinical data and apply the latest genetic methods.

 Purpose of the project

  • Identification of new genes or genetic mechanisms causing Rett-like syndromes
  • Identification of mutations in known disease-causing genes in patients with Rett-like syndromes
  • Collecting knowledge of Rett-like symptoms as neurological regression, stereotypic hand movements, abnormal breathing pattern, loss of speech, gait disturbance, growth failure, and epilepsy. 

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