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![[back to Human Molecular Genetics]](m2001_arrow_back.gif "[back to Human Molecular Genetics]"){kind=icon} Human Molecular
Genetics |
Research Group Familial Cognitive Disorders |
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Familial Cognitive Disorders ! Our main interest is the elucidation of the genetic background of brain disorders with a focus on Mental Retardation (MR). According to the American Association on Mental Retardation (AAMR), MR is a disability , which originates before age 18. It is characterized by significant limitations both in intellectual functioning and in adaptive behavior as expressed in conceptual, social, and practical adaptive skills. Five assumptions are essential to the application of the definition: 1) Limitations in present functioning must be considered within the context of community environments typical of the individual's age peers and culture. 2) Valid assessment considers cultural and linguistic diversity as well as differences in communication, sensory, motor, and behavioral factors. 3) Within an individual, limitations often coexist with strengths. 4) An important purpose of describing limitations is to develop a profile of needed supports. 5) With appropriate personalized supports over a sustained period, the life functioning of the person with mental retardation generally will improve. Scientific and Social Relevance of Mental Retardation In all studied populations, mental retardation (MR) is among the most common forms of genetic handicaps. With a prevalence of 1 to 2 % and lifetime costs varying between one and two million US$, it is by far the most costly diagnosis in industrialized countries. However, very little is known so far about the gene defects underlying this disorder, except for X-linked forms of MR (XLMR), where significant progress has been made thanks to recent collaborative efforts of a consortium comprising several European and Australian institutions including the MPIMG and our group. Autosomal recessive causes of MR are thought to be significantly more common than X-linked causes and may account for up to 25% of all cases. The search for genes underlying nonsyndromic autosomal recessive MR (ARMR) has so far been lagging behind due to small family sizes and lack of consanguinity in western societies (both preclude successful mapping and identification of candidate loci). However, by combining efforts and strongpoints with our Iraninan collaboration partners we are now able to perform analyses on pedigrees of sufficient size and consanguinity in order to address this question. .
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