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Lauren Jeffries, DO

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Associate Research Scientist in Pediatrics (Critical Care Medicine)

About

Titles

Associate Research Scientist in Pediatrics (Critical Care Medicine)

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

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 Subject Headings (MeSH)

Genetic Code; Pediatrics

Research at a Glance

Yale Co-Authors

Frequent collaborators of Lauren Jeffries's published research.

Publications

2024

2023

2022

2021

2020

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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