Translational Medical Research Commons^™

Phenotype-Genotype Correlations In Patients With Epidermolysis Bullosa With Plec Mutations, Elizabeth Zhang, Masoomeh Faghankani, Hassan Vahidnezhad, Jouni Uitto

Phase 1

Epidermolysis bullosa (EB) is a heterogeneous group of genetic disorders characterized by blistering skin and mucous membranes. Mutations of the protein plectin, encoded by PLEC, cause autosomal recessive EB simplex with muscular dystrophy (EBS-MD) and EB simplex with pyloric atresia (EBS-PA). Until now, no clear genotype-phenotype correlation has been identified from the positions of mutations in the PLEC gene. How do ten distinct families with PLEC mutations manifesting as various EB disorders compare with regard to gene mutations? The hypothesis is that clinical manifestations of EB will be more extreme in patients with more severe gene mutations.

The design of …

In Vivo T Cell Genetic Engineering With Melanoma-Specific Tcr And Car, Toby Mathew, Vitali Alexeev

Phase 1

Introduction: Adoptive cell transfer (ACT) using T cells genetically engineered to express tumor-specific T cell receptors (TCR) and Chimeric Antigen receptors (CAR) have demonstrated high remission rates in patients with advanced cancers. Targeting of metastatic melanoma with TCR-modified recombinant T cells showed clinically significant response in the majority of patients. However, due to certain drawbacks, this powerful strategy is not yet available for broad clinical application. We propose that in vivo genetic engineering approach may allow overcoming several drawbacks associated ACT and could convert it into generic and cost-effective modality to bring recombinant T cell therapies to general patient …

Characterizing Patch Test Findings In African American Acd Patients, Vaibhav Garg, Bruce Brod, Anthony Gaspari

Phase 1

Introduction: Allergic Contact Dermatitis (ACD) in African Americans has not been well studied, and there is little information related to differences in patterns of ACD between African Americans and Caucasians. This paper aims to investigate relative differences in patterns of sensitization in African American ACD patients.

Methods: This study is a retrospective descriptive study. Data of ACD patients patch tested from 2009-2019 by Dr. Gaspari and Dr. Brod at TJUH and HUP/UPHS were reviewed. Patch test findings for African American and Caucasian patients were compared. Outcomes such as positive allergens, strength, clinical relevance, patient occupation, and personal product use …

Plasma Exosome Mir-155-5p As An Independent Prognostic Risk Factor For Mycosis Fungoides, Adam Cohen-Nowak, Neda Nikbakht

Phase 1

Introduction: Mycosis Fungoides (MF) is a rare non-Hodgkin Lymphoma with variable progression that comprises half of all cutaneous T-cell lymphomas (CTCLs). Previous studies have shown higher expression of the micro-RNA miR-155-5p isolated from biopsies of MF tumors compared to early-stage lesions and healthy skin, illustrating the potential for miR-155-5p to serve as a prognostic indicator. Small extracellular vesicles (30-150 nm) called exosomes are known to play a role in cancer signaling and progression by carrying micro-RNAs. However, no studies have measured circulating exosomal miR-155-5p in the blood of patients with MF. We hypothesize that miR-155-5p is expressed higher in …