Molecule body concept of the human DNA

Research

The Monogenic Diabetes Registry (also known as the MODY or Neonatal Diabetes Registry) has been developed by the University of Chicago under the direction of Louis Philipson, MD, PhD.

The Neonatal Diabetes Registry was the first national registry for neonatal diabetes in the United States. It was developed by the University of Chicago under the direction of Siri Atma Greeley, M.D., Ph.D. and has been sponsored by the Juvenile Diabetes Research Foundation (JDRF) and the American Diabetes Association (ADA).

A complementary MODY Registry was developed by Rochelle Naylor, M.D., working with Dr. Philipson. These two registries were merged into what is now the Monogenic Diabetes Registry.

Research studies from the Monogenic Diabetes Registry are managed by Lisa Letourneau-Freiberg, MPH, RD, LDN. 

Quick Links

Registry Information

Through this research, we hope to learn more about the number of people who have monogenic diabetes, why and how it happens, and how best to treat it.

Anyone diagnosed with diabetes under the age of 12 months (1 year), and especially those diagnosed before 6 months of age, may have a monogenic form of diabetes called neonatal diabetes rather than type 1 diabetes. Their diabetes may be associated with complications not usually found in type 1 diabetes, including learning and developmental problems. They may also respond to treatments other than insulin, including sulfonylureas, which are pills used to treat certain types of diabetes.

People with monogenic diabetes that began after 12 months of age, sometimes called “maturity-onset diabetes of the young” or MODY, may respond to treatments other than insulin including sulfonylureas.

 

Any adult or child with a known genetic cause of monogenic diabetes may join the Registry. If you suspect monogenic diabetes in yourself or a family member, you are eligible to join the Monogenic Diabetes Registry if you meet inclusion criteria.  

Inclusion Criteria: (1) Diagnosis of diabetes before 12 months of age; (2) Diagnosis of diabetes after 12 months of age AND at least one of the following criteria:

  • Presumed diagnosis of type 1 diabetes with one or more of these features atypical of type 1 diabetes
    • Negative autoantibodies (no antibodies to GAD 65, insulin, islet cell, or ICA-512/IA-2)
    • Detectable c-peptide >1 year after diagnosis
    • Adequate diabetes control on unusually small doses of insulin and/or no significant illness with missed insulin doses >1 year after diagnosis
  • Presumed diagnosis of type 2 diabetes with one or more of these features atypical of type 2 diabetes
    • Diagnosis before age 35 years
    • Not significantly overweight (body mass index <30 kg/m2)
    • No signs of insulin resistance on examination or blood tests
  • Incidental diagnosis of mild but persistent high blood sugar that does not worsen over time
  • Diabetes in 3 or more successive generations of family members with a pattern consistent with a mutated gene being passed from a parent to their children
  • Known genetic cause of monogenic diabetes in you or your family

Please read the consent documents below to learn more about our research. You may also contact Registry staff at (773) 702-0829 or email at monogenicdiabetes@uchicago.edu.

 

If you are currently treating a patient who has or who you suspect may have monogenic diabetes, direct them here to review consent documentation and consider participating in our study.

Please DO NOT print these forms and send them to us - these consent forms are only for informational purposes. If you are interested in the study, please register or contact us at (773) 702-0829 to begin the consent process.

Consent for Monogenic Diabetes Registry (English)

Consent for Monogenic Diabetes Registry (Spanish)

Consent for Participation in Online Discussion Group 

 

Consent for Saliva Collection and Genetic Testing (English)

Consent for Saliva Collection and Genetic Testing (Spanish)

Medical Record Release Form

 

 See More Frequently Asked Questions

Registry by the Numbers

As of August 2023

  • > 4000

    Participants Enrolled in Registry

  • > 2200

    Families Enrolled in Registry

  • > 1300

    Participants with a known cause

Publications

Data from the Monogenic Diabetes Registry leads to many published papers. Here are a few of our most recent publications:

ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents. Greeley SAW, Polak M, Njølstad PR, et al. https://pubmed.ncbi.nlm.nih.gov/36537518/ 

Insulin Deficiency From Insulin Gene Mutation Leads to Smaller Pancreas. Jordan J. Wright, Jonathan M. Williams, Lisa R. Letourneau-Freiberg, Balamurugan Kandasamy, Demetra Reyes, Anastasia Gant Kanegusuku, Louis Philipson, Siri Atma W. Greeley, Melissa A. Hilmes, Alvin C. Powers, John Virostko, Daniel J. Moore. https://pubmed.ncbi.nlm.nih.gov/36724370/

Diagnosis, treatment and disclosure: A qualitative exploration of participant challenges in a Monogenic Diabetes Registry. Noohi F, Sundaresan MS, Naylor RN, Ross LF. ​​​​​​​https://pubmed.ncbi.nlm.nih.gov/36681871/​​​​​​​

Variants influencing age at diagnosis of HNF1A-MODY. Ludwig-Słomczyńska AH, Seweryn MT, Radkowski P, Kapusta P, Machlowska J, Pruhova S, Gasperikova D, Bellanne-Chantelot C, Hattersley A, Kandasamy B, Letourneau-Freiberg L, Philipson L, Doria A, Wołkow PP, Małecki MT, Klupa T. https://pubmed.ncbi.nlm.nih.gov/36104811/

Objective and Subjective Sleep Patterns in Adults With Maturity-Onset Diabetes of the Young (MODY). Marilyn Arosemena, Maria V. Salguero, Rochelle N. Naylor, Kristen Wroblewski, Esra Tasali, and Louis H. Philipson. https://pubmed.ncbi.nlm.nih.gov/36637968/ 

Precision diabetes: Lessons learned from maturity-onset diabetes of the young (MODY). Tosur, M., & Philipson, L. H. https://pubmed.ncbi.nlm.nih.gov/35638342/

ADA/EASD Precision Medicine in Diabetes Initiative: An International Perspective and Future Vision for Precision Medicine in Diabetes. Nolan, J. J., Kahkoska, A. R., Semnani-Azad, Z., Hivert, M. F., Ji, L., Mohan, V., Eckel, R. H., Philipson, L. H., Rich, S. S., Gruber, C., & Franks, P. W. https://pubmed.ncbi.nlm.nih.gov/35050364/

Variants influencing age at diagnosis of HNF1A-MODY. Ludwig-Słomczyńska, A. H., Seweryn, M. T., Radkowski, P., Kapusta, P., Machlowska, J., Pruhova, S., Gasperikova, D., Bellanne-Chantelot, C., Hattersley, A., Kandasamy, B., Letourneau-Freiberg, L., Philipson, L., Doria, A., Wołkow, P. P., Małecki, M. T., & Klupa,T.  https://pubmed.ncbi.nlm.nih.gov/36104811/

Diabetes with Multiple Autoimmune and Inflammatory Conditions Linked to an Activating SKAP2 Mutation.
Rutsch N, Chamberlain CE, Dixon W, Spector L, Letourneau-Freiberg LR, Lwin WW, Philipson LH, Zarbock A, Saintus K, Wang J, German MS, Anderson MS, Lowell CA.
https://pubmed.ncbi.nlm.nih.gov/34172489/

Insight on diagnosis and treatment from over a decade of research through the University of Chicago Monogenic Diabetes Registry.   
Bowden, T. L., Letourneau-Freiberg, L. R., Kandasamy, B., Sanyoura, M., Tian, P., Harris, A. G., Bell, G. I., Philipson, L. H., Naylor, R. N., Greeley, S. A.
https://doi.org/10.3389/fcdhc.2021.735548

Neonatal Diabetes International Collaborative Group. Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients with Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.
Bowman, P., Mathews, F., Barbetti, F., Shepherd, M. H., Sanchez, J., Piccini, B., Beltrand, J., Letourneau-Freiberg, L. R., Polak, M., Greeley, S., Rawlins, E., Babiker, T., Thomas, N. J., De Franco, E., Ellard, S., Flanagan, S. E., Hattersley, A. T.
https://pubmed.ncbi.nlm.nih.gov/33184150/

Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes. Dalgin, G., Tryba, A. K., Cohen, A. P., Park, S. Y., Philipson, L. H., Greeley, S. A. W., & Garcia, A. J. https://pubmed.ncbi.nlm.nih.gov/34732776/ 

Diagnosis and Clinical Management of Monogenic Diabetes. 
Naylor RN and Philipson LH.
https://pubmed.ncbi.nlm.nih.gov/33180404/

A Non-Coding Disease Modifier of Pancreatic Agenesis identified by Genetic Correction in a Patient-Derived iPSC Line.
Kishore S, De Franco E, Cardenas-Diaz FL, Letourneau-Freiberg LR, Sanyoura M, Osorio-Quintero C, French DL, Greeley SAW, Hattersley AT, Gadue P.
https://pubmed.ncbi.nlm.nih.gov/32442395/

Harnessing heterogeneity in type 2 diabetes mellitus.
Philipson LH.
https://pubmed.ncbi.nlm.nih.gov/31831872

Update of variants identified in the pancreatic beta-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux J, Ronholt Larsen A, Sanyoura M, Greeley SAW, Calzada-Leon R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Thybo Christesen H, Bellanne-Chantelot C, Flanagan SE.
https://pubmed.ncbi.nlm.nih.gov/32027066/

Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.
Letourneau LR, Greeley SAW.
https://pubmed.ncbi.nlm.nih.gov/31250216

The Impact of Biomarker Screening and Cascade Genetic Testing on the Cost-Effectiveness of MODY Genetic Testing.
GoodSmith MS, Skandari MR, Huang ES, Naylor RN.
https://pubmed.ncbi.nlm.nih.gov/31558549

Economics of Genetic Testing for Diabetes.
Naylor R.
https://www.ncbi.nlm.nih.gov/pubmed/30919097

Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry.
Dickens LT, Letourneau LR, Sanyoura M, Greeley SAW, Philipson LH, Naylor RN.
https://www.ncbi.nlm.nih.gov/pubmed/30535721

Uncommon Presentations of Diabetes: Zebras in the Herd
Shidler KL, Letourneau LR, Novak LM.
https://pubmed.ncbi.nlm.nih.gov/31975755

Iatrogenic Hyperinsulinemia, Not Hyperglycemia, Drives Insulin Resistance in Type 1 Diabetes as Revealed by Comparison With GCK-MODY (MODY2).
Gregory JM, Smith TJ, Slaughter JC, Mason HR, Hughey CC, Smith MS, Kandasamy B, Greeley SAW, Philipson LH, Naylor RN, Letourneau LR, Abumrad NN, Cherrington AD, Moore DJ.
https://www.ncbi.nlm.nih.gov/pubmed/31092478

Pediatric Monogenic Diabetes: A Unique Challenge and Opportunity.
Harris A, Naylor RN.
https://pubmed.ncbi.nlm.nih.gov/31426100

GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.
Sanyoura M, Letourneau L, Knight Johnson AE, Del Gaudio D, Greeley SAW, Philipson LH, Naylor RN.
https://www.ncbi.nlm.nih.gov/pubmed/31063852

Precision Medicine: Long -Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.
Letourneau LR, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/31250216

Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated.
Johnson MB, De Franco E, Greeley SAW, Letourneau LR, Gillespie KM; International DS-PNDM Consortium, Wakeling MN, Ellard S, Flanagan SE, PAtel KA, Hattersley AT.
https://www.ncbi.nlm.nih.gov/pubmed/30962220

Human islets expressing HNF1A variant have defective β cell transcriptional regulatory networks.
Haliyur R, Tong X, Sanyoura M, Shrestha S, Lindner J, Saunders DC, Aramandla R, Poffenberger G, Redick SD, Bottino R, Prasad N, Levy SE, Blind RD, Harlan DM, Philipson LH, Stein RW, Brissova M, Powers AC.
https://www.ncbi.nlm.nih.gov/pubmed/30507613

Updates in Gestational Diabetes Prevalence, Treatment, and Health Policy.
Dickens LT, Thomas CC.
https://www.ncbi.nlm.nih.gov/pubmed/31073850

Monogenic Diabetes in Children and Adolescents: Recognition and Treatment Options.
Sanyoura M, Philipson LH, Naylor R.
https://www.ncbi.nlm.nih.gov/pubmed/29931562

Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.
Letourneau LR, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/29896650

Precision medicine in KCNJ11 permanent neonatal diabetes.
Greeley SAW, Letourneau LR, Philipson LH.
https://www.ncbi.nlm.nih.gov/pubmed/29880307

Monogenic diabetes: the impact of making the right diagnosis.
Harris AG, Letourneau LR, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/29846255

Maturity-Onset Diabetes of the Young Overview.
Naylor R, Knight Johnson A, del Gaudio D.
https://www.ncbi.nlm.nih.gov/pubmed/29792621

Congenital forms of diabetes: the beta-cell and beyond.
Letourneau LR, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/29454299

Clinical Management of Women with Monogenic Diabetes During Pregnancy.
Dickens LT, Naylor RN.
https://www.ncbi.nlm.nih.gov/pubmed/29450745

Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
Lemelman MB, Letourneau L, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/29406006

Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
Sanyoura M, Jacobsen L, Carmody D, Del Gaudio D, Alkorta-Aranburu G, Arndt K, Hu Y, Kobiernicki F, Kusmartseva I, Atkinson MA, Philipson LH, Schatz D, Campbell-Thompson M, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/28938416

Preservation of Reduced Numbers of Insulin-Positive Cells in Sulfonylurea-Unresponsive KCNJ11-Related Diabetes.
Greeley SA, Zielinski MC, Poudel A, Ye H, Berry S, Taxy JB, Carmody D, Steiner DF, Philipson LH, Wood JR, Hara M.
https://www.ncbi.nlm.nih.gov/pubmed/27802092

Diabetes Presentation in Infancy: High Risk of Diabetic Ketoacidosis.
Letourneau LR, Carmody D, Wroblewski K, Denson AM, Sanyoura M, Naylor RN, Philipson LH, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/28779000

Early Intensive Insulin Use May Preserve β-Cell Function in Neonatal Diabetes Due to Mutations in the Proinsulin Gene.
Letourneau LR, Carmody D, Philipson LH, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/29308449

Hypoglycemia in sulfonylurea-treated KCNJ11-neonatal diabetes: Mild-moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures.
Lanning MS, Carmody D, Szczerbiński Ł, Letourneau LR, Naylor RN, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/29205704

Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
Sanyoura M, Jacobsen L, Carmody D, Del Gaudio D, Alkorta-Aranburu G, Arndt K, Hu Y, Kobiernicki F, Kusmartseva I, Atkinson MA, Philipson LH, Schatz D, Campbell-Thompson M, Greeley SAW.
https://www.ncbi.nlm.nih.gov/pubmed/28938416

FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Hwang JL, Park SY, Ye H, Sanyoura M, Pastore AN, Carmody D, Del Gaudio D, Wilson JF, Hanis CL, Liu X, Atzmon G, Glaser B, Philipson LH, Greeley SAW; T2D-Genes Consortium.
https://www.ncbi.nlm.nih.gov/pubmed/29193502

Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation.
Carmody D, Ladsaria SS, Buikema RK, Semple RK, Greeley SA.
https://www.ncbi.nlm.nih.gov/pubmed/26262567

Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls.
Carmody D, Pastore AN, Landmeier KA, Letourneau LR, Martin R, Hwang JL, Naylor RN, Hunter SJ, Msall ME, Philipson LH, Scott MN, Greeley SA.
https://www.ncbi.nlm.nih.gov/pubmed/27223594

ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes.
Landmeier KA, Lanning M, Carmody D, Greeley SAW, Msall ME.
https://www.ncbi.nlm.nih.gov/pubmed/27555491

GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.
Carmody D, Naylor RN, Bell CD, Berry S, Montgomery JT, Tadie EC, Hwang JL, Greeley SA, Philipson LH.
https://www.ncbi.nlm.nih.gov/pubmed/27106716
Two women talking at table

Additional Research Opportunities

For additional research opportunities related to monogenic diabetes, please contact us at monogenicdiabetes@uchicago.edu or call 773-702-0829.