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Research update September 2017

September 12, 2017by sadafnaz Leave a comment

We have identified a new type of skeletal dysplasia due to a COL10A1 variant. Usually, individuals carrying single mutated copies of Collagen 10 alpha-1, (COL10A1) suffer from Metaphyseal chondrodysplasia, Schmid type, […]

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Research Update March-April 2016

May 2, 2016by sadafnaz Leave a comment

During this period, we have concentrated on acquiring and preparing reagents for conducting constructs to study a new gene for skeletal dysplasia. We have designed experiments to modify cell lines […]

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Research Update January-February 2016

March 22, 2016by sadafnaz Leave a comment

In the exome data of one family which participated in our study, we did not find a known cause of dwarfism. Currently, we are devising strategies to follow it further. […]

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Research update November-December 2015

December 21, 2015by sadafnaz Leave a comment

We have designed assays to assess a novel variant in one gene as cause of skeletal dysplasia in a participating family. Work will commence once all reagents are received. For a new […]

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Research Update September-October 2015

October 12, 2015by sadafnaz Leave a comment

We are designing assays and experiments to evaluate variants in 2 genes as novel cause of dwarfism syndrome in a family. We have obtained exome data for a family with […]

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Research Update July-August 2015

August 24, 2015by sadafnaz Leave a comment

We have mostly completed analyses of samples from a family with a complex syndrome of skeletal dysplasia. We have implicated 2 genes, variants in which are causing the disorder in […]

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Research Update May 2015

June 10, 2015by sadafnaz Leave a comment

For a family with a complex but unresolved cause of dwarfism, we have obtained exome data from a second affected individual. By comparing the data from the two individuals, we have identified a number […]

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Research Update March-April 2015

April 22, 2015by sadafnaz Leave a comment

We have screened additional 50 samples for variants which were identified after exome sequencing in the data of two families with skeletal dysplasia. None of these mutations are found in […]

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Research Update February 2015

February 28, 2015by sadafnaz Leave a comment

We have screened DNA from 50 new samples for variants in various genes which were detected after exome sequencing. We have been able to reduce the number of likely variants […]

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Research Update December 2014-January 2015

January 13, 2015by sadafnaz Leave a comment

We have continued to evaluate the variants in candidate genes in exome data for 2 families using extensive Sanger sequencing. All of these variants segregate with the phenotype and have […]

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