About 45 families affected by Phelan-McDermid syndrome (PMS) met in London on Saturday, May 18th, 2013, to share experiences, talk to doctors and researchers, and promote awareness of the syndrome throughout Europe. Phelan-McDermid syndrome is caused, in most cases, by a deletion of a distal segment on the long arm of chromosome 22 and is also known as deletion 22q13 syndrome.
While most of the families were from the United Kingdome, families from 8 other countries attended on a rainy, somewhat chilly day. Dr. Katy Phelan, whose ground-breaking work set in motion the PMS Foundation, and Sue Lomas, the president of the PMS Foundation’s Board of Directors, attended from the United States.
Families at the regional meeting in London Katy Phelan, Sue Lomas, and Alison Turner with a
banner signed by the families
Currently over 900 families have been identified with the numbers increasing dramatically as changes in technology, such as microarray analysis, is more widely available. As more deletions have been diagnosed, the range of deletion size as well as the phenotypic spectrum of the syndrome has expanded. In July, 2014, the Foundation will hold the 9th International PMSF Support Group Meeting and Research Conference in Orlando, FL. The conference continues the mission started by Dr. Phelan in 1998 to characterize the features of the syndrome, educate families and the medical community, and raise awareness among the general public and among health providers.
In collaboration with Prof. Michael Marble at Children's Hospital of New Orleans, Dr. Morava has been funded to develop screening at the Hayward Genetics Biochemical Genetics Lab for a new category of metabolic diseases involving abnormal glycosylated proteins. Dr. Morava-Kozicz will also evaluate the effectiveness of dietary galactose treatment on a subset of these patients. The Louisiana Clinical and Translational Science Center (LA CaTS) was established to develop inter-institute collaborations.
For a list of upcoming seminars, click here.
Our 14 Master's students graduated on May 16th.
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