Category Archives: School

GEMSS: Genetics Educational Materials for School Success

GEMSSGEMSS: Genetics Educational Materials for School Success is a website that provides educational materials for school personnel to support the inclusion of students with genetic syndromes in the classroom. They have recently added a useful section on MECP2 duplication syndrome.

The site also includes a sections on many other genetic conditions, such as Rett syndrome and Angelman syndrome.

Regardless of the school placement of your child, this can be very helpful information to share with your child’s school.

What do Teachers Need to Know?

This year, I 978-1-55766-710-6am working with my co-editors (Fred Orelove & Donna Gilles) on the 5th edition of Educating Children with Severe and Multiple Disabilities. Our first edition came out in 1987 and the book has been used to train about 50,000 teachers and other professionals over the years. The publisher, Brookes Publishing Co., has agreed that my share of the royalties will be paid directly to the MECP2 Duplication Syndrome Fund at the Rett Syndrome Research Trust. It won’t be a lot, but it will provide a few extra dollars in the coming years.

More importantly, there is another reason Continue reading

The Gene Hunt and Developmental Disabilities

17 April 2012 Today’s issue of nature includes and article titled “Gene hunt is on for mental disability: Pioneering clinical genome-sequencing projects focus on patients with developmental delay.” It describes some of the relatively recent  developments in the widespread use of partial- and full-genome testing for developmental disability syndromes. According to the article:

Joining the hunt is a UK-based programme called Deciphering Developmental Disorders, which expects to sequence 1,000 exomes [sections of DNA that are known to cause actual attributes in individuals] by the year’s end, with an ultimate goal of diagnosing up to 12,000 British children with developmental delay. A Canadian project called FORGE (finding of rare disease genes) aims to sequence children and families with 200 different disorders this year. And in the United States, the National Human Genome Research Institute in Bethesda, Maryland, recently funded three Mendelian Disorders Sequencing Centers that will apply genome sequencing to diagnosing thousands of patients with a wider range of rare diseases, including intellectual disability and developmental delay.

Connections at the University

Dave (front row, Centre) and friends

Connections, a newsletter published by the Alberta Association for Community Living, an organization that promotes inclusion for people with developmental disabilities published a recent article on inclusion at the College and University Level in its Spring 2010issue that just came out. We were delighted to see our son Dave (who was diagnosed with MECP2 Duplication Syndrome last year) featured in the story that includes the photo reproduced here taken at Concordia University College of Alberta. Continue reading