Institute for Human Genetics, Medical Faculty

University Hospital of Cologne, Building 47, 9th floor, Kerpener Str. 34, 50931 Cologne

Prof. Dr. Brunhilde Wirth

Key research areas of the group are:

  • Molecular genetics and biology of spinal muscular atrophy (5q13)
  • Molecular investigation of transcription factor-like nuclear regulator gene/protein (TFNR; 5q13, also named BDP1) and atypical SMA forms

Spinal muscular atrophy (SMA) is the second most common autosomal recessive, lethal condition in Caucasians with an incidence of 1 in 6,000 live births. In about 96% of all cases, SMA is caused by homozygous deleti ons/mutations of the survival motor neuron gene (SMN1). Absence of the SMN1 gene product results in the degeneration of alpha motor neurons in the spinal cord and, as a secondary effect, leads to weakness and atrophy of the proximal muscles in legs and arms and, finally, of the trunk muscles.

more >>