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Phelan-McDermid Syndrome UK & Ireland Family Day in London

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.  

PHELANPhelan 1
       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.

Dr

Prof. Morava-Kozicz Awarded LA CaTS Grant To Develop New CDG Screening Test and Treatment
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.

Announcements


Congratulations to the Class of 2014!

cLASS OF 2014 CROPPED
Our 14 Master's students graduated on May 16th.


Masters in Human Genetics Program


Applications for the Fall 2015 year will open on October 1, 2015. To Quoteapply click here.

Interested in our 1 Year Master's Program? The Human Genetics Program offers a 1 year, post-baccalaureate Master of Biomedical Science Degree with a concentration in Human Genetics. Read more...

2014 Graduation

 

 

 

 

 

 

 

 

 

1430 Tulane Ave, New Orleans, LA 70112 504-988-5263 medsch@tulane.edu