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INFORMATION FOR

    Lauren Jeffries, DO

    Associate Research Scientist in Genetics
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    Associate Research Scientist in Genetics

    Biography

    Lauren Jeffries, DO is a pediatrician and medical geneticist working with the Pediatric Genomics Discovery Program at YaleMedicine. She completed training in pediatrics in 2015 and in genetics in 2017, and has enjoyed clinical aspects of work in gene discovery since then. She has specific interests in physical anomalies, birth defects, and inherited undiagnosed medical problems.

    Appointments

    • Genetics

      Associate Research Scientist
      Primary

    Other Departments & Organizations

    Education & Training

    Medical Genetics Residency
    Yale University (2017)
    Pediatric Residency
    University of Connecticut (2015)
    DO
    Kansas City University of Medicine and Biosciences, College of Osteopathic Medicine (2012)

    Research

    Overview

    My research has focused on providing the clinical perspective of novel and emerging genetic diagnoses. I have been involved in publishing reports of genetic diagnoses that had not previously been discovered, as well as diagnoses that are only beginning to be described where additional reports of additional affected individuals and their variants can help shape the landscape of what is understood regarding a gene and the spectrum of illness(es) it may be associated with.

    Medical Research Interests

    Genetic Code; Pediatrics

    Research at a Glance

    Yale Co-Authors

    Frequent collaborators of Lauren Jeffries's published research.

    Publications

    2024

    2023

    2022

    2021

    Clinical Trials

    Current Trials

    Clinical Care

    Overview

    Lauren Jeffries, DO, is a pediatrician and medical geneticist for the Pediatric Genomics Discovery Program (PGDP), where she provides genetic counseling to patients and their families.

    In her PGDP role, Dr. Jeffries helps families understand the information on what genetic testing can and cannot provide. “Even if a condition isn’t directly treatable with medication, just having a diagnosis or knowledge of a specific variant can be very powerful,” Dr. Jeffries says. “For families looking for answers, having a diagnosis offers new insight to their child’s condition, guidance as to appropriate resources and supportive therapies, and a means of support for those who wish to connect with similarly-impacted patients and families.”

    Initially drawn to pediatrics because it offered the opportunity to develop relationships with patients and families while providing ongoing care, Dr. Jeffries discovered that as a medical geneticist, her role as a caregiver could continue throughout a patient’s lifetime. “For some of our most complicated patients, the geneticist is like a second primary care provider,”mshe says, referring to the fact that often geneticists have to be aware of a constellation of health issues potentially affecting the patient—not just one part of the body.

    “It’s important to me that patients and families understand their testing options and diagnoses,” Dr. Jeffries says. “Although genetics may seem complicated, it doesn’t need to be."

    Clinical Specialties

    Genetics; Pediatric Critical Care Medicine

    Fact Sheets

    Board Certifications

    • Medical Genetics

      Certification Organization
      AB of Medical Genetics and Genomics
      Original Certification Date
      2017
    • Pediatrics

      Certification Organization
      AB of Pediatrics
      Original Certification Date
      2016

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