Joe M El-Khoury, PhD, DABCC, FACB

Assistant Professor of Laboratory Medicine; Co-Director, Clinical Chemistry Laboratory; Co-Director, Clinical Chemistry Fellowship Program

Research Interests

Chemistry Techniques, Analytical; Chromatography; Pathology, Clinical; Mass Spectrometry; Clinical Laboratory Techniques; Clinical Chemistry Tests

Public Health Interests

Biomarkers; Cardiovascular Disease; Kidney Disease

Research Organizations

Laboratory Medicine: Clinical Chemistry Laboratory

Program for Applied Translational Research (PATR)

Research Summary

I have three active areas of research interest: 1) Discovery of new biomarkers for the assessment of kidney function and kidney injury, 2) Development of new mass spectrometry-based methods for the measurement of biomarkers in biological fluids, and 3) reducing errors in the clinical laboratory. These active areas of research are detailed below.

Extensive Research Description

Creatinine has known limitations as a biomarker for the evaluation of kidney function and kidney injury. Over the years, improvements in the eGFR equations slightly improved the performance of this marker, however these equations do not account for many non-GFR factors that affect creatinine. An important analogy to remember is that the light-bulb was not invented by trying to improve the candle. Hence, my goal has been to evaluate other existing markers for kidney function and bring them forward into the clinical field. Symmetric dimethylarginine (SDMA) is an emerging marker of kidney function that does not suffer from the same limitations that impact creatinine (such as muscle mass). My group’s recent publication evaluated the performance of SDMA against all existing markers of kidney function in a small population of healthy and CKD adult patients and showed that SDMA is superior to creatinine. This work is crucial for improvement in diagnosis of patients with CKD worldwide. We are currently working on the development of a high-throughput clinical assay for SDMA to enable its adoption in clinical laboratories.

Mass spectrometry has historically been limited to research laboratories, but the advent of soft ionization techniques such as electrospray ionization (ESI) and matrix assisted laser desorption ionization (MALDI) in the late 1980s, for which the inventers were jointly awarded the 2002 Nobel prize in Chemistry, rendered liquid chromatography-tandem mass spectrometry (LC-MS/MS) an indispensable tool for analyses of small and macro-molecules in biological fluids. Recent improvements in sensitivity and affordability have encouraged the adoption of this technology for routine applications in the clinical laboratory. Initially, clinical labs focused on its utilisation on drugs of abuse confirmation, newborn screening, and steroid analysis. Today, clinical applications of mass spectrometry are being used in almost all areas of laboratory medicine, including microbiology, anatomic pathology, genetic disorders and pharmacogenetics, immunology, endocrinology and toxicology. My goal is to adopt this technology for our patients here and to develop non-existent assays.

In a recent report, researchers from Johns Hopkins University School of Medicine in Baltimore made headlines when they estimated that medical error is the third leading cause of death in the US. While patient safety remains a struggle in many areas of healthcare, laboratory medicine has been a leader in reducing error, with an estimated total error rate of 0.33%, the lowest in diagnostic medicine. Major advancements in automation and analytical instrumentation have helped reduce laboratory-associated errors over the last decade, but with pre-analytical errors currently accounting for up to 75% of all mistakes, laboratory medicine professionals must keep expanding their focus to what is happening outside of the lab. My goal is to raise awareness regarding this issue and to develop quality indicators to help monitor and detect pre-analytical errors.

Full List of PubMed Publications

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Contact Info

Joe M El-Khoury, PhD, DABCC, FACB
Mailing Address
Department of Laboratory Medicine20 York St
New Haven, CT 06510