Nationally renowned for its ability to identify and treat seldom seen health issues with the best care possible, the UT Southwestern Rare Disease Center of Excellence will host its third annual symposium Friday, September 6^th.

The keynote speaker at the daylong event will be Troy Torgerson, M.D., Ph.D, Director of Experimental Immunology at the Allen Institute for Immunology. Dr. Torgerson’s research is focused on understanding cellular and molecular drivers that mediate autoimmunity and immune dysregulation in humans. To do this, he has focused on defining and therapeutically modulating the immune defects in patients with genetic diseases that are predisposed to immune dysregulation and in patients with complex autoimmune diseases.

The symposium, which will be held in the T. Boone Pickens Biomedical Building (ND14) on North Campus, is designed to cover rare diseases from each of UTSW’s mission areas: clinical, educational, and research.

Registration Required: https://zoom.us/webinar/register/WN_mM4G9JRVQ0aIki4GwGQ_YA

UTSW/Children’s Health 
Rare Disease Center of Excellence 
2024 Symposium 

8:00   Breakfast Available 

8:15   Welcome/Introduction/Housekeeping 
 Angela Scheuerle, MD 

8:30   Introduction of Keynote Speaker 
 Christian Wysocki, MD 

8:45   Keynote Address 
 Troy Torgerson , MD, PhD 

9:30   Break 

9:45   Investigation in Pediatric Immunology 
 Christian Wysocki, MD 

10:15  Inborn errors of Innate Immunity and Interferonopathy 
 Nan Yan, PhD 

10:45  Retrotransposon triggers in Innate Immune Pathways 
 Sisi Zheng, MD 

11:15  Immunotherapy in Cancer 
 Kareem Azab, PhD 

11:45  Lunch Available  

12:30  VH2+ Antigen-Experienced B Cells in the Cerebrospinal Fluid Are Expanded and 
Enriched in Pediatric Anti-NMDA Receptor Encephalitis  
Andrea Waltrip* 

12:45  STING Mediates Lysosomal Quality Control through its Proton Channel Function 
and TFEB Activation 
 Zhen Tang* 

1:00   Unusual presentation of Muckle Wells Syndrome 
 Veronica Torres, PA 

1:15   Role of Neuroinflammation in ECHS1 Deficiency 
 Meghan Eller* 

1:30   Metabolic Alterations in Hepatic Ischemia-Reperfusion Injury: Seeking the Electron 
Source for ROS Generation 
 Henry Roseman* 

1:45   Mammary-type Myofibroblastoma 
 Benji Popokh* 

2:00   Break 

2:15   Inflammation and Biliary Atresia 
Pranavkumar Shivakumar, PhD 

2:45   Multidiscipliary approach to Inflammatory Bowel Disease 
 Bhaskar Gurram, MD 

3:15   Genetics of Familial Celiac Disease 
 Xiao-Fei Kong, MD, PhD 

3:45   Rare Disease identification using Prenatal Exome and Genome sequencing  
 Heather Fisher, MS, CGC 

4:15   Wrap up 

*Trainees