...since 1998

Molecular Genetics Centre and diagnosis of rare diseases

RD&I Programme

GENETAQ participates in the INNCORPORA Torres Quevedo Sub-Programme, part of the National RD&I Plan.

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News and articles

M.G.C. Genetaq has actively participated in 1st Interdisciplinary Conference of Human Genetics with an oral communication about RASopathy.
In this article, Borràs et al., describe the genetic diagnosis of autosomal dominant polycysti

Smith–Lemli–Opitz syndrome anniversary

Thu, 05/06/2014 - 11:57 -- Genetaq

Fifty years ago, the Smith–Lemli–Opitz Syndrome (SLOS) was described in three male patients by pediatricians David W Smith, Luc Lemli and John Opitz at the University of Wisconsin, USA, for the first time. Typical symptoms of SLOS include 2,3 toe syndactyly and facial dysmorphisms.

Just 30 years later, Tint et al found abnormally low concentrations of cholesterol in the plasma of five patients with SLOS, but greater than 1000-fold increases in level of his immediate precursor, 7-dehydrocholesterol (7-DHC). This step is catalizad by D7-dehydrocholesterol reductase.