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Demetrios Braddock, MD, PhD

Associate Professor of Pathology
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About

Titles

Associate Professor of Pathology

Biography

Demetrios Braddock was born in Tennessee, educated at the University of Chicago, trained at the NIH in Anatomic Pathology and Biophysical Chemistry, and came to Yale in 2004 where he practices hematopathology and heads a laboratory studying pathogenic mechanisms of severe and poorly addressed human diseases. His laboratory focuses on rare diseases of children, and on the design and engineering of novel biologics to modulate disease outcomes.

Dr. Braddock’s laboratory has designed and validated an enzyme biologic for a lethal infantile calcification disorder called ‘Generalized Arterial Calcification of Infancy’ (GACI), which has been translated into infants, children, and adults with GACI, ARHR2, PXE, and CKD-MBD (ClinicalTrials.gov: NCT05734196, NCT06046820, NCT04686175, NCT06283589).

Appointments

Education & Training

Fellow
Yale University School of Medicine (2010)
Resident
National Cancer Institute, NIH, Laboratory of Pathology (2000)
MD
University of Chicago Pritzker School of Medicine (1996)
PhD
University of Chicago (1994)

Research

Overview

My group is primarily interested in biochemical and structural pathogenesis of blood disorders and protein engineering, and have focused our work on understanding the physiologic role of the ENPP family of enzymes. We recently described two members of the ENPP family in brain vasculature that promote platelet aggregation and calcification. Polymorphisms in one of these enzymes (ENPP1) was recently described to confer stroke protection to pediatric sickle cell patients and a lethal neonatal vascular calcification disorder called 'Generalized Arterial Calcification of Infancy' (GACI). Insights into this pathway allowed us to engineer a curative recombinant biologic which corrects disease sequela in GACI, which are moving into patients in collaboration with a company we founded (Inozyme Pharma). We have also identified a form of early onset osteoporosis associated with ENPP1 deficiency, and are investigating the role of ENPP1 in low bone mass and increased tissue calcification, a medical condition called 'Paradoxical Mineralization' which occurs in the general medical population in conditions such as aging and chronic kidney disease. We have recently expanded our research into enzyme biologics as therapeutics for oncology and autoimmune indications.

Medical Research Interests

Calcification, Physiologic; Osteoarthropathy, Primary Hypertrophic; Pathology; Pseudoxanthoma Elasticum; Rare Diseases; Sickle Cell Trait; Vascular Calcification

Research at a Glance

Yale Co-Authors

Frequent collaborators of Demetrios Braddock's published research.

Publications

Featured Publications

2024

2023

Academic Achievements & Community Involvement

  • activity

    Scientific Advisory Board

  • honor

    Yale 2022 Faculty Innovation Award

Clinical Care

Overview

Demetrios Braddock, MD, PhD, is a pathologist who specializes in diagnosing blood cancers and diseases, especially a rare disease called generalized arterial calcification of infancy (GACI). As an undergraduate student, Dr. Braddock discovered that he enjoyed the creativity of research, in addition to possibility of helping patients. He decided to pursue a PhD during his medical training. “I enjoy working at the interface of what we know and don’t know, and expanding that border to advance medicine,” he says.

Since coming to Yale, Dr. Braddock has led research in his laboratory on a particular molecule called the ENPP enzyme. Enzymes, produced by cells in the body, serve as catalysts for different biological functions. The family of ENPP enzymes in particular help with blood vessel development and bone mineralization. Patients suffering from GACI usually have calcium deposits built up within their blood vessels, which interfere with blood flow. Dr. Braddock has developed biologic drugs that serve as enzyme replacement therapies to address rare diseases. “I will get phone calls from physicians all over who want more information about diagnosing GACI and who want to learn more about it,” he says.

For him, patient care is one of the most significant motivators in his research lab and in the clinic, when he is examining a patient sample for evidence of disease. “The physician cannot begin treatment of a patient without the correct diagnosis,” he says. “That’s where we come in and try to get the accurate clinical diagnosis for what we see microscopically.”

At Yale School of Medicine, Dr. Braddock is an associate professor of pathology.

Clinical Specialties

Pathology; Hematopathology

Board Certifications

  • Hematology (Pathology)

    Certification Organization
    AB of Pathology
    Original Certification Date
    2012
  • Anatomic Pathology

    Certification Organization
    AB of Pathology
    Original Certification Date
    2000

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