Our special expertise

Our team at the Senckenberg Centre for Human Genetics conducts genetic counselling and diagnostic analyses for virtually every genetic disorder. However, there are areas of special expertise concerning particular disease groups - namely deafness, eye diseases, neurogenetic disorders (including developmental delay/mental retardation), congenital malformation syndromes and genetic tumour predisposition. There has been long-standing diagnostic and scientific activity of our physicians and scientists, and the latter is reflected by the identification of several new genes associated with isolated and syndromic hearing impairment, retinal degeneration and various syndromes.

Deafness

Hearing loss is the most common sensory deficit in humans, affecting approximately 1 in 500 newborns. Deafness has a genetic basis in two-thirds of patients.

Further reading

Inherited eye diseases

Many eye diseases have a genetic basis. The knowledge of the underlying gene defect has far-reaching consequences for the individual medical care and guidance of patients and their families.

Further reading

Hereditary Cancers

Familial clustering of cancers may indicate that hereditary factors play an important role for cancer development in such families. Genetic counselling and molecular genetic diagnostics may enable targeted preventive screening measures and might be important for individual treatment in some tumour entities.

Further reading

Disorders of the nervous system

Numerous disorders of the nervous system may be due to genetic causes and they may be part of a syndrome affecting other organs. A genetic diagnosis may avoid stressful examinations and pave the way for an anticipatory disease management or even therapeutic options.

Further reading

Malignant hyperthermia

Malignant hyperthermia (MH) is a hereditary metabolic myopathy triggered by certain anaesthetics. The molecular genetic testing in patients with suspected MH and the predictive genetic testing of at-risk asymptomatic family members enables an accurate diagnosis with just a blood sample.

Further reading