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.
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.
Pediatricians Offered Advanced Course on Neurometabolic Disorders
Pediatricians were offered an advanced course on neurometabolic disorders over a four day span in March 2013. More than 60 participants registered for the training, including neurologists, pediatricians, neonatologists, fellows and biochemical geneticists from Hong Kong and China. The training included lectures, workshops and diagnostic sessions. The highly interactive meeting was a great success.
International team from:
All seminars will take place on Fridays from 11:00 - 12:00
Congratulations Class of 2014!
Our 14 Master's students graduated on May 16th.
Welcome New Faculty Members
Eva Morava-Kozicz, MD, PhD and Tamas Kozicz, MD, PhD, have joined the Hayward Genetics Center. Dr. Morava-Kozicz is appointed as Professor of Pediatrics. Dr. Tamas Kozicz is appointed as an Associate Professor of Anatomy and will be teaching and conducting research in the Department of Structural Cellular Biology and at the Hayward Genetics Center.
Interested in our One-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...
Tulane Poster Prize Winner
Tess Gadomski BcS, studying glycosylation disorders at the Morava Lab, won the Dean of the School of Medicine Award for Excellence in Research and Presentation by a Medical Student at Tulane Health Sciences Day.
Medical Genetics Residency Programs
Medical Genetics is
A Holiday Greeting from One of Our Patients
Future American Idol?
1430 Tulane Ave, New Orleans, LA 70112 504-988-5263 email@example.com