Our Research

There are a large number of studies ongoing and a number of future studies planned by the team at the Monogenic Diabetes Registry. Would you like to get more involved? See if you qualify for any of our ongoing studies below, update your contact information, or pass along our registration form to a friend or family member who might fit our eligibility criteria.

Recruiting participants diagnosed with diabetes under 1 year of age and siblings without diabetes

Eligibility criteria:

  • Diagnosed under 1 year of age with type 1 diabetes OR a permanent form of neonatal diabetes (INS, FOXP3, GATA6, PDX1, EIF2AK3 are all okay – KCNJ11 and ABCC8 are not eligible for this study)
  • Are currently ~4-20 years old
  • Healthy siblings without diabetes ages ~4-20 years old

Participation options:

Visit us in Chicago and complete the following in person –

  • In-person neuropsychological assessments (completing tasks and surveys with a trained pediatric development specialist)
  • Continuous glucose monitoring and standardized meal test
  • Behavior/school surveys and parent-completed surveys on neuropsychology
  • Medical history surveys and medical record acquisition (looking at HbA1c, c-peptide, total daily dose of medications, height/weight)
  • Quality of life surveys
  • *Compensation for travel costs is available*

OR complete surveys from home –

  • Behavior/school surveys and parent-completed surveys on neuropsychology
  • Medical history surveys and medical record acquisition (looking at HbA1c, c-peptide, total daily dose of medications, height/weight)
  • Quality of life surveys

To learn more, please contact Anna Denson, research assistant at 773-702-0829 or email us at monogenicdiabetes@uchicago.edu.


Newborn Screening Study

Purpose: Many rare metabolic conditions are screened for in the first 24-48 hours after birth. You might remember your child having their heel poked and drops of blood squeezed onto a newborn screening card. We think that some of the monogenic forms of diabetes that are diagnosed within the first few weeks of life may be able to be picked up on a newborn screening card. We are currently running a pilot and feasibility study to see if 1) we can identify blood sugar elevations on these newborn screening cards and 2) if it would be possible to add testing for this to the existing list of newborn screening conditions. In order to do this, we are asking participants with neonatal diabetes to give permission for us to go back to the state they were born in, retrieve that dried blood spot card, and test it to see if there were any blood sugar elevations.

Eligibility Criteria:

  • Diagnosed with a form of neonatal diabetes (particularly those diagnosed with diabetes under 6 months of age)
  • Born in the United States
  • Willing to provide permission for our study team to retrieve your original newborn screening blood spot card and test it for blood sugar elevations

Participation: If you’re interested, please contact our research manager Lisa Letourneau at lletourneau@medicine.bsd.uchicago.edu .


Collaborations for additional genetic testing

Purpose: Our collaborators at the University of California and the Broad Institute of Harvard and MIT are conducting comprehensive research-based genetic testing to learn more about atypical forms of diabetes.

Participation: To learn more about our study and if you are eligible to participate, please contact our study coordinator, Anastasia Harris at aharris9@medicine.bsd.uchicago.edu.


Barriers Study

Purpose: We are currently enrolling participants to learn more about any barriers associated with enrolling into our Monogenic Diabetes Registry.

Eligibility criteria:

  • Enrolled in the Registry with diabetes
  • Willing to complete a 30-minute phone interview

Participation: If you meet our eligibility criteria, we will be reaching out to you via email/phone to learn more about your experience. All participants will be monetarily compensated for their time.


Quality of Life Surveys

Purpose: An ongoing component of our studies is learning more about your quality life as a person living with diabetes. We are particularly interested in learning more about your quality of life changes after receiving a monogenic diabetes diagnosis. Collecting this information is important in raising awareness to the importance of diabetes care and how the health system can better support people living with diabetes.

Eligibility Criteria:

  • Enrolled in the Registry with diabetes and/or
  • Recently diagnosed with a monogenic form of diabetes

Participation: If you have not completed a quality of life survey, or if you have but need to complete a follow-up survey please email our study coordinator, Anastasia Harris at aharris9@medicine.bsd.uchicago.edu.


MODY Biomarker Study

Purpose: To better understand biomarkers (lab results) in people with different forms of MODY we are collecting blood spot cards. Most of this data has previously been collected on European Caucasian populations. We are hoping that our more diverse dataset will be able to more accurately determine if there are any differences in biomarkers across many different race/ethnic groups.

Eligibility Criteria:

  • Diagnosis of GCK-MODY, HNF1A-MODY, HNF4A-MODY, or HNF1B-MODY
  • Willing to provide blood spot and/or urine sample via mail

Participation: If you are interested in learning more, please email our research manager, Lisa Letourneau at lletourneau@medicine.bsd.uchicago.edu.


Dietary Modification and Continuous Glucose Monitoring (CGM) in GCK-MODY

Purpose: We are trying to learn more about how changing what you eat may or may not impact blood sugars in people with GCK-MODY. This study involves completing two dietary modifications while wearing a continuous glucose monitor (CGM).

Eligibility Criteria:

  • Confirmed diagnosis of GCK-MODY
  • ≥18 years old
  • Willing to adhere to prescribed dietary modification for up to 14 days and wear a CGM

Participation: If you are interested in participating, please email research manager Lisa Letourneau at lletourneau@medicine.bsd.uchicago.edu.


Recently moved? Changed phone numbers? Switched to a new doctor?

Update your contact information here (make sure to check the box at the top to indicate you are only updating your contact information): https://cri-app02.bsd.uchicago.edu/monogenics/registration_2013.aspx


Pass along information about our studies:

Have a family member or friend who might meet our eligibility criteria? Pass along our secure registration link: https://cri-app02.bsd.uchicago.edu/monogenics/registration_2013.aspx or have them call Anastasia Harris, Study Coordinator, at 773-702-0829.

If you are interested in learning if you or a loved one might be eligible for our studies, please see our Registration page.