Southern Pediatric Regional Meeting in New Orleans February 26-288
Adam Janssen, Tess Gadomski, Kelly Jensen, Sunnie Wong and Graeme Preston from the Morava and the Chen lab gave successful poster presentations at the meeting on disorders of glycosylation, cutis laxa, X- linked disorders with intellectual disability and autism
I am Yuwen Li, was born in Wuhan City, Hubei Province, China, where I attended Jianghan University, School of Medicine from 2003 to 2008, to study my major in Clinical Medicine and minor in Applied Psychology. And I was granted an M.D.-equivalent degree after this 4-year academic on-campus study and 1-year multi-department clinical training as an intern in Wuhan General Hospital of People’s Liberation Army. After graduation, I worked as a research assistant under the supervision of Dr. Shihai Zhang in Tongji Medical College of Huazhong University of Science and Technology for one year. In 2009, I enrolled in the Graduate Program in Biomedical Sciences of Tulane University to pursue my Ph.D. degree. One year later, I started my scientific study on kidney development with the guidance of Dr. Samir El-Dahr. During my Ph.D. research period, I contributed to one publishing manuscript as a first author, three peer-reviewed publications (one as first author) and seven peer-reviewed abstracts, and presented my work at several national and international meetings, and received Trainee Awards in 2012 and 2013 Southern Regional Meeting/ Southern Society of Pediatric Research. In 2014 summer, I was granted a Ph.D. degree in Biomedical Sciences. Currently, I am a post-doctoral fellow in clinical cytogenetic lab under supervision of Dr. Katy Phelan. My current research interest is the transcriptional and epigenetic mechanisms of nephrogenesis. I am also an amateur event/portrait/wedding photographer. And I like singing, fitness workout and playing soccer as well.
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.
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.
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