Costello Syndrome News and Research

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New stem-cell model of heart tissue unravels mechanisms linked to hypertrophic cardiomyopathy

Using advanced stem cell technology, scientists from the Icahn School of Medicine at Mount Sinai have created a model of a heart condition called hypertrophic cardiomyopathy (HCM) — an excessive thickening of the heart that is associated with a number of rare and common illnesses, some of which have a strong genetic component.

31 Aug 2016

UAB lab to offer new tests for genetic diseases using next-generation sequencing

The Medical Genomics Laboratory at the University of Alabama at Birmingham is expanding its technological array with a new panel of diagnostic tests for genetic diseases known as neurofibromatoses and rasopathies. Beginning April 18, the UAB lab will offer new tests using the technique called customized deep-coverage, next-generation sequencing or NGS.

18 Apr 2016

Research: Treatment with antioxidants may help reduce behavioral issues linked to NF1

New research in mouse models suggests that treatment with antioxidants may help reduce behavioral issues linked to the genetic nervous system disorder Neurofibromatosis 1 (NF1) and an associated condition called Costello syndrome.

12 Sep 2013

Researchers discover alternative mechanism for Ras protein activation

The protein Ras plays an important role in cellular growth control. Researchers have focused on the protein because mutations in its gene are found in more than 30 percent of all cancers, making it the most prevalent human oncogene.

28 Nov 2012

PD0325901 drug may hold potential to prevent neurofibromatosis 1 in children

A drug originally developed to stop cancerous tumors may hold the potential to prevent abnormal brain cell growth and learning disabilities in some children, if they can be diagnosed early enough, a new animal study suggests.

31 Aug 2012

HRAS mutation analysis in Costello Syndrome

Gene mutations in the HRAS sequence are present in most patients affected with Costello syndrome, according to a new study in the American Journal of Medical Genetics. The mutations occurred de novo in patients, meaning, they were not observed in their parents' genes.

5 Dec 2005