About

Rochelle Naylor, MD, is an Associate Professor of Pediatrics and Medicine at the University of Chicago, affiliated with the Department of Medicine and the Committee on Clinical Pharmacology and Pharmacogenomics. Her clinical and research expertise focus on genetic and atypical forms of diabetes, particularly monogenic diabetes such as MODY. She is a co-Investigator of the US National Monogenic Diabetes Registry housed at the University of Chicago and an investigator of the RADIANT study, contributing to efforts that address barriers to accurate genetic diagnosis and inequities in the benefits of diabetes precision medicine. Dr. Naylor's work includes conducting cost-effectiveness analyses demonstrating the economic value of precise genetic diagnosis and ongoing studies aimed at clarifying management practices for monogenic diabetes and supporting broader implementation of precision medicine in diabetes care.

Research topics

• Medicine
• Endocrinology
• Political Science
• Internal medicine
• Intensive care medicine
• Genetics
• Biology
• Family medicine
• Computational biology
• Pediatrics
• Pathology
• Bioinformatics
• Physical therapy

Selected publications

• Obstructive Sleep Apnea, Resting Heart Rate, and Glycemic Variability in Adults With Maturity-Onset Diabetes of the Young

  Diabetes · 2025-11-13 · 1 citations

  articleOpen access

  Obstructive sleep apnea (OSA) is a common condition strongly linked to increased cardiovascular risk and poor glycemic control. Little is known about OSA, cardiovascular risk, and glycemia in maturity-onset diabetes of the young (MODY), an inherited form of diabetes, which is different than both type 1 and type 2 diabetes. We assessed OSA, resting heart rate (RHR), an important prognostic marker of cardiovascular disease, and glycemic variability among the most common subtypes of MODY, glucokinase (GCK)-MODY, and transcription factor (TF)-related MODY (HNF1A, HNF4A, and HNF1B). Adults with GCK-MODY (n = 63) and TF-related MODY (n = 60) and control adults without diabetes (n = 65) were screened for OSA by home sleep test. Glycemic variability (continuous glucose monitoring) and RHR (wearable sleep-activity tracker) were concomitantly assessed for 2 weeks at home. Data from 188 individuals (2,853 recorded days) were analyzed. Individuals with TF-related MODY, compared with those with GCK-MODY or control individuals, had more OSA (48.3%, 27.0%, and 30.8%, respectively; P = 0.033), higher RHR (72.8 ± 10.8, 65.2 ± 7.9, and 67.3 ± 7.7 bpm, respectively; P < 0.001), and higher glycemic variability (coefficient of variation of glucose 31.6 ± 6.0%, 17.3 ± 4.5%, and 17.5 ± 4.0%, respectively; P < 0.001). Greater severity of OSA and higher RHR were associated with higher glycemic variability. These findings may have important clinical implications for cardiovascular risk assessment in MODY. ARTICLE HIGHLIGHTS: Obstructive sleep apnea (OSA) has been strongly linked to increased cardiovascular risk and poor glycemic control in the general population. Resting heart rate (RHR) is a prognostic marker of cardiovascular morbidity and mortality and has been linked to dysglycemia. Little is known about OSA, RHR, and glycemia in maturity-onset diabetes of the young (MODY), an inherited form of diabetes with discrete clinical features. Adults with transcription factor-related MODY (HNF1A, HNF4A, and HNF1B) had more OSA and higher RHR and greater glycemic variability compared with those with glucokinase-MODY or control adults without diabetes, which may have important clinical implications for future cardiovascular risk.

  PublisherOA PDFDOI

• &lt;b&gt;Obstructive Sleep Apnea, Resting Heart Rate and Glycemic Variability in Adults with Maturity-Onset Diabetes of the Young&lt;/b&gt;

  2025-11-13

  articleOpen access

  &lt;p dir="ltr"&gt;Obstructive sleep apnea (OSA) is a common condition strongly linked to increased cardiovascular risk and poor glycemic control. Little is known about OSA, cardiovascular risk and glycemia in maturity onset diabetes of the young (MODY), an inherited form of diabetes, which is different than both type 1 and type 2 diabetes. We assessed OSA, resting heart rate (RHR), an important prognostic marker of cardiovascular disease, and glycemic variability among the most common subtypes of MODY, glucokinase (GCK)-MODY and transcription factor (TF)-related MODY (HNF1A, HNF4A and HNF1B). Adults with GCK-MODY (n=63) and TF-related MODY (n=60), and controls without diabetes (n=65) were screened for OSA by home sleep test. Glycemic variability (continuous glucose monitoring) and RHR (wearable sleep-activity tracker) were concomitantly assessed for 2 weeks at home. Data from 188 subjects (2853 recorded days) were analyzed. TF-related MODY, compared to GCK-MODY or controls, had more OSA (48.3%, 27.0% and 30.8%, respectively; p=0.033), higher RHR (72.8±10.8, 65.2±7.9 and 67.3±7.7 bpm, respectively; p&lt;0.001), and higher glycemic variability (coefficient of variation of glucose 31.6±6.0%, 17.3±4.5% and 17.5±4.0%, respectively; p&lt;0.001). Greater severity of OSA and higher RHR were associated with higher glycemic variability. These findings may have important clinical implications for cardiovascular risk assessment in MODY.&lt;/p&gt;

  PublisherDOI

• &lt;b&gt;Obstructive Sleep Apnea, Resting Heart Rate and Glycemic Variability in Adults with Maturity-Onset Diabetes of the Young&lt;/b&gt;

  2025-11-13

  articleOpen access

  &lt;p dir="ltr"&gt;Obstructive sleep apnea (OSA) is a common condition strongly linked to increased cardiovascular risk and poor glycemic control. Little is known about OSA, cardiovascular risk and glycemia in maturity onset diabetes of the young (MODY), an inherited form of diabetes, which is different than both type 1 and type 2 diabetes. We assessed OSA, resting heart rate (RHR), an important prognostic marker of cardiovascular disease, and glycemic variability among the most common subtypes of MODY, glucokinase (GCK)-MODY and transcription factor (TF)-related MODY (HNF1A, HNF4A and HNF1B). Adults with GCK-MODY (n=63) and TF-related MODY (n=60), and controls without diabetes (n=65) were screened for OSA by home sleep test. Glycemic variability (continuous glucose monitoring) and RHR (wearable sleep-activity tracker) were concomitantly assessed for 2 weeks at home. Data from 188 subjects (2853 recorded days) were analyzed. TF-related MODY, compared to GCK-MODY or controls, had more OSA (48.3%, 27.0% and 30.8%, respectively; p=0.033), higher RHR (72.8±10.8, 65.2±7.9 and 67.3±7.7 bpm, respectively; p&lt;0.001), and higher glycemic variability (coefficient of variation of glucose 31.6±6.0%, 17.3±4.5% and 17.5±4.0%, respectively; p&lt;0.001). Greater severity of OSA and higher RHR were associated with higher glycemic variability. These findings may have important clinical implications for cardiovascular risk assessment in MODY.&lt;/p&gt;

  PublisherOA PDFDOI

• Participant characteristics in the effectiveness of lifestyle interventions to optimize gestational weight gain: a systematic review and meta-analysis

  Communications Medicine · 2025-10-24 · 1 citations

  reviewOpen access

  Precision prevention involves tailoring interventions to the unique characteristics of a group or individual to maximize their effectiveness. In this study, we examined the role of participant characteristics in the effectiveness of lifestyle interventions to optimize gestational weight gain (GWG). We searched Medline, Embase, and PubMed, from inception up to March 2025, to identify randomized and non-randomized controlled trials of lifestyle interventions (diet, physical activity, or combined) commencing before or during pregnancy. Participant characteristics, including age, race/ethnicity, body mass index (BMI), employment status, fasting low- and high-density lipoprotein cholesterol (HDL-C) were assessed. Mean differences (MD) in GWG were pooled using the random-effect model. Meta-regression and subgroup analysis were conducted by participant characteristics (e.g., BMI). A total of 86 studies with 28,270 participants were included in this systematic review and meta-analysis. All lifestyle intervention types significantly reduced GWG. Combined lifestyle interventions initiated at first (MD −0.68; 95% confidence interval [CI]: −1.28, −0.07) and early second (13–17 weeks) trimester (MD −0.83; 95% CI: −1.46, −0.20) provide better effectiveness in optimizing GWG. Diet-only interventions significantly reduced GWG only in participants with normal BMI (MD −1.33 kg; CI: −1.75, −1.91) compared to the other BMI categories. Combined diet and physical activity interventions reduce excessive GWG in women with higher baseline HDL-C (β −0.04; 95% CI −0.06, −0.01). Lifestyle interventions reduced excessive GWG, with possible differential effects by intervention initiation time, BMI, and HDL-C. Future studies should consider physiological as well as social characteristics, in line with a holistic framework for precision medicine. A growing body of evidence underscores the pivotal role of lifestyle intervention in reducing the risk of excessive weight gain during pregnancy and associated maternal and child health complications. However, instead of a one-size-fits-all approach, further research is needed to help differentiate how to optimize the effectiveness of these interventions based on individual physiological and social determinants. This study found that lifestyle interventions reduce excessive weight gain during pregnancy, with greater benefits for certain women, including those with a normal body mass index and higher high-density lipoprotein cholesterol (good cholesterol) levels at the beginning of lifestyle interventions. Non-stratified data reporting prevented us from examining other pertinent participant characteristics, and future studies are required to inform precision intervention approaches that benefit all women. Grieger, Takele, Vesco, et al. perform a systematic review and meta-analysis of gestational weight gain interventions. Findings indicate lifestyle interventions that reduce excessive gestational weight gain provide greater benefits for women with a normal BMI and higher HDL cholesterol levels at the initiation of interventions.

  PublisherOA PDFDOI

• Advancing Monogenic Diabetes Research and Clinical Care by Creating a Data Commons: The Precision Diabetes Consortium (PREDICT)

  Journal of Diabetes Science and Technology · 2025-01-09 · 1 citations

  articleOpen access

  Monogenic diabetes mellitus (MDM) is a group of relatively rare disorders caused by pathogenic variants in key genes that result in hyperglycemia. Lack of identified cases, along with absent data standards, and limited collaboration across institutions have hindered research progress. To address this, the UChicago Monogenic Diabetes Registry (UCMDMR) and UChicago Data for the Common Good (D4CG) created a national consortium of MDM research institutions called the PREcision DIabetes ConsorTium (PREDICT). Following the D4CG model, PREDICT has successfully established a multicenter MDM data commons. PREDICT has created a consensus data dictionary that will be utilized to address critical gaps in understanding of these rare types of diabetes. This approach may be useful for other rare conditions that would benefit from access to harmonized pooled data.

  PublisherOA PDFDOI

• Sleep patterns in adults and children with less common forms of diabetes

  Frontiers in Endocrinology · 2025-10-13

  reviewOpen access

  Objective: To review the current evidence on sleep patterns in relation to glucose control in adults and children with type 1 diabetes (T1DM) and monogenic diabetes. Methods: We searched for the literature pertaining to T1DM and monogenic diabetes with reported sleep patterns, along with glycemic control, in PubMed. This review aimed to examine the current evidence on the relationship between sleep patterns and diabetes management and possible mediating mechanisms for this relationship in adults and children with T1DM and monogenic diabetes. We reviewed articles published from inception until 2023. Results: Twenty-five clinical studies met the eligibility criteria and were included. Children with T1DM with higher sleep variability had higher glucose levels, and those with higher glucose variability had more sleep disruptions. Comparing children with suboptimal [hemoglobin A1c (HbA1c) ≥ 7.5%] and optimal glucose control, those with suboptimal control had shorter sleep duration. There was no higher prevalence of obstructive sleep apnea (OSA) in children with T1DM compared to controls, but in T1DM, those who had OSA had higher glucose levels. Adults with T1DM had a high prevalence of poor sleep quality and were also sleeping less than the recommended hours for their age. Poor sleep quality and short sleep duration correlated with higher glycemic variability. First-generation automated insulin delivery systems did not improve sleep patterns in T1DM, but other strategies, including coaching and counseling, proved to be effective. Monogenic diabetes data also suggest poor sleep quality, short sleep duration, and high rates of sleep apnea. Conclusion: T1DM subjects seem to have worse sleep patterns, especially those with suboptimal glucose control. Monogenic diabetes data are limited, but they also suggest poor sleep patterns. Rigorous interventional studies are needed to further elucidate the sleep-diabetes relationship. Future research could provide insights into strategies that could effectively improve sleep in people living with diabetes.

  PublisherOA PDFDOI

• Creation and Evaluation of a Research Participant Portal for the University of Chicago Monogenic Diabetes Registry

  Journal of Diabetes Science and Technology · 2025-12-11

  articleOpen access

  The University of Chicago Monogenic Diabetes Registry (UCMDR) developed a participant portal to enhance engagement and data completeness in a large, longitudinal research study. Built in collaboration with the Center for Research Informatics (CRI), the portal integrates with REDCap to provide secure survey access, document exchange, and communication. Since its launch, 40% of invited participants have activated accounts. Among new enrollees, 88% of portal users completed their baseline survey, up from a historical 60%. Portal activation was higher among female participants ( P &lt; .01), with no significant differences by age or income. Overall portal feature use was modest, possibly reflecting lower adoption among historical participants accustomed to legacy processes. These findings support the feasibility of research participant portals while highlighting opportunities to improve equitable engagement and functionality.

  PublisherOA PDFDOI

• Approach to the Patient: Mitochondrial Diabetes: Contemporary Cases and a Precision Medicine Approach

  The Journal of Clinical Endocrinology & Metabolism · 2025-12-30 · 1 citations

  articleOpen access

  Maternally inherited diabetes and deafness (MIDD) syndrome is a rare form of monogenic diabetes most often caused by the pathogenic m.3243A > G mutation in the mitochondrial tRNALeu (UUR) gene, MT-TL1. Mutations causing MIDD are also associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. This paper analyzes the data of 15 probands with mitochondrial diabetes enrolled in the University of Chicago Monogenic Diabetes Registry, all of whom have confirmed pathogenic variants, primarily m.3243A > G. Three of these probands (3/15) were selected for detailed case studies and pedigree analysis. Among the total cohort, sensorineural hearing loss (80%) and muscle weakness (53%) were frequent comorbidities, and all tested individuals were negative for islet autoantibodies. Treatment regimens included insulin and sulfonylureas, with some reporting use of biguanides despite safety concerns related to mitochondrial dysfunction. Three probands noted subjective improvement with mitochondrial cocktail supplementation. Familial heteroplasmy testing revealed significant inter- and intrafamilial variability. This cohort represents 1 of the largest clinically characterized US populations with mitochondrial diabetes and underscores the importance of urine-based heteroplasmy testing and personalized management strategies informed by mitochondrial pathophysiology.

  PublisherOA PDFDOI

• Antibody-Positive Type 1 Diabetes in a Family With a Pathogenic <i>HNF1A</i>-MODY Variant and Variable Age of Onset

  JCEM Case Reports · 2025-09-25

  articleOpen access

  Abstract Monogenic diabetes (MD) is a relatively rare and heterogeneous group of disorders caused by pathogenic single-gene variants or abnormalities resulting in hyperglycemia. MD represents approximately 3.5% of all diabetes cases diagnosed before age 35 years, though it is possible for MD to develop at later ages. MD diagnoses have implications for precision therapy and cascade genetic testing. A hallmark characteristic suggesting MD is a multigenerational family history of nonobese diabetes diagnosed before age 35 with an autosomal dominant inheritance. However, even with a known family history of genetically confirmed MD, it is possible for an individual within that family to have a different form of diabetes. Here, we present a case from the University of Chicago Monogenic Diabetes Registry of an individual with antibody-positive type 1 diabetes in a family with a history of a genetically confirmed known pathogenic HNF1A variant causing maturity-onset diabetes of the young (MODY) with variable age of onset in affected individuals. This family pedigree showcases that HNF1A-MODY can develop at any age and illustrates the importance of every individual receiving a thorough work-up for accurate diabetes classification, including obtaining antibody testing and genetic testing, when indicated, to provide optimal treatment and management.

  PublisherOA PDFDOI

• GLP-1 RA and dual GIP/GLP-1 RA treatment in MODY: a descriptive case series

  BMJ Open Diabetes Research & Care · 2025-04-01 · 4 citations

  articleOpen access

  Introduction Glucagon-like peptide-1 receptor agonists (GLP-1 RA) and dual glucose insulinotropic polypeptide (GIP)/GLP-1 RA are widely prescribed, but their effectiveness in different subtypes of maturity-onset diabetes of the young (MODY) is unknown. Research design and methods We present a descriptive case series of individuals from two MODY cohorts who used GLP-1 RA or dual GIP/GLP-1 RA. Paired t tests were used to compare HbA1c, body mass index (BMI), and sulfonylurea (SU) dose before and after GLP-1 RA or dual GIP/GLP-1 RA therapy. Results 10 individuals (4 hepatocyte nuclear factor-1α (HNF1A)-MODY, 4 hepatocyte nuclear factor-4α (HNF4A)-MODY, 1 ATP-binding cassette transporter subfamily C member 8 (ABCC8)-MODY, 1 hepatocyte nuclear factor-1β (HNF1B)-MODY) were identified who used GLP-1 RA or dual GIP/GLP-1 RA. In patients with HNF1A-MODY and HNF4A-MODY, GLP-1 RA reduced HbA1c by 1.3% (p=0.010), BMI by 2.90 kg/m 2 (p=0.008), and total daily dose of SU by 66.6% (p=0.005). Dual GIP/GLP-1 RA treatment led to a non-statistically significant decrease in HbA1c of 1.8% (p=0.104), a statistically significant reduction in BMI of 8.73 kg/m 2 (p=0.010), and all patients discontinued SU (n=2) and one discontinued insulin. In patients with ABCC8-MODY and HNF1B-MODY, GLP-1 RA reduced HbA1c by 1.2% and 1.8%, BMI by 1.1 kg/m 2 and 1.2 kg/m 2 , and the patients no longer required treatment with SU or insulin, respectively. Conclusions GLP-1 RA and dual GIP/GLP-1 RA lowered HbA1c, BMI, and SU dose in patients with MODY.

  PublisherOA PDFDOI

Recent grants

• Advancing Recognition and Personalized Genetic Medicine for MODY in a Multi-Ethnic US Population

  NIH · $649k · 2017–2021

Frequent coauthors

• Siri Atma W. Greeley

  University of Chicago

  63 shared

• Louis H. Philipson

  University of Chicago

  61 shared

• Norbert Stefan

  Deutsches Diabetes-Zentrum e.V.

  49 shared

• Cécile Saint‐Martin

  Assistance Publique – Hôpitaux de Paris

  48 shared

• Feifei Cheng

  Dalian Medical University

  48 shared

• Róbert Wágner

  Heinrich Heine University Düsseldorf

  47 shared

• Jacques Beltrand

  Sorbonne Paris Cité

  40 shared

• Carmella Evans‐Molina

  37 shared

Labs

• Rochelle Naylor LabPI