Baby Anastasia is from Moskow and she was critically ill for the hereditary sensory neuropathy known as Hirschsprung disease. The illness is characterized by a congenital absence of ganglion cells in the distal colon resulting in functional obstruction. Untreated aganglionic megacolon during infancy may result in death with a mortality rate as high as 80%. Operative mortality rates for interventional procedures are very low.

Syndromes associated with HSCR are diagnosed through clinical findings, cytogenetic analysis or, in certain cases, by specific molecular or biochemical tests. Treatment is removal of the aganglionic portion of the colon.

In early 2005 Anastasia was sixth months old when she underwent an operation at the University Medical Center Schleswig-Holstein. This was made possible due to operation and post surgery costs being collected by Dr. Björn Wenzel, a former colleague of Anastasia's father, the scientist Dr. Igor Zubashev. Response to funding appeals in Lübeck newspapers raised 40.000 Euro. Donations account was kept by the support society keme e.V. which was founded by Prof. Dr. Wolfgang Höppner to support activities in the field of Clinical and Experimental Molecular Endocrinology. Molecular testing was provided by BioGlobe GmbH, one of the leading laboratories in the field of Molecular Diagnostics.

In November 2005 Anastasia was able to return to Moskow with a good chance of normal life.

Hier wird künstliches Gewebe gezüchtet

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Genetik und Kardiovaskuläre Risiken / Cholesterin / English version: Genetics and Cholesterol