This page is dedicated to the Atypical Diabetes research study, one of over 60 studies supported by the Boston Children’s Rare Disease Collaborative (CRDC). For more information about the CRDC, please visit our home page. Established in 2018, the CRDC supports pediatric rare disease research and provides families with genetic diagnoses that enable personalized treatments, including precision medicine and targeted therapies.

The Atypical Diabetes research study was recently established at Boston Children’s in 2024 and is led by Dr. Ray Kreienkamp. The study aims to understand the genetic causes of atypical diabetes, improve diagnostic approaches, and explore targeted treatments.

Disease information

Most people with diabetes have either type 1 or type 2 diabetes, the most common forms of diabetes in pediatrics. These are caused by both environmental and genetic factors. Genetically, these forms of diabetes are polygenic, meaning that they are caused by many small changes throughout the genome. 

There are atypical forms of diabetes that are caused by a single genetic change with a very large effect. Many of these conditions are caused by mutations that disrupt insulin production or glucose regulation. Some of these are called Maturity-Onset Diabetes of the Young (MODY), which include: 

  • GCK-MODY
  • HNF1A-MODY
  • HNF4A-MODY
  • HNF1B-MODY 

among others. It is estimated that 2–6% of individuals with pediatric-onset diabetes have an underlying genetic cause for their condition. Genetic diagnosis can significantly impact treatment decisions, such as switching from insulin to oral medications in some forms of MODY. Genetic testing plays a key role in diagnosing these subtypes and tailoring therapy—such as sulfonylureas instead of insulin for some monogenic forms. Boston Children’s Hospital Diabetes Genetics Clinic, led by Dr. Kreienkamp, specializes in treating these particular forms of diabetes.

Genes of Interest

HNF1B, HNF1A, GCK, HNF4A

Genes involved in glucose regulation and insulin secretion

Participate in Research

Physicians may refer their patients with atypical diabetes to Dr. Kreienkamp. Interested patients can also discuss this study with their primary provider to ask if they may be a good candidate, and ask the provider to reach out to Dr. Kreienkamp. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. Read more about their research on their researcher profiles: Dr. Ray Kreienkamp.

Patient care

Patients and their families with atypical diabetes can be seen by an expert multidisciplinary team in the Diabetes Program at Boston Children’s. Patients with monogenic forms of diabetes can be seen in the Diabetes Genetics Clinic at Boston Children’s Hospital, which specializes in treating these conditions.

Investigators

Divisions

Notable publications by investigators

  1. MODY Calculator and Clinical Features Routinely Used to Distinguish MODY From Type 2 Diabetes in Adults Perform Poorly for Youth Clinically Diagnosed With Type 2 Diabetes
  2. Advancing Monogenic Diabetes Research and Clinical Care by Creating a Data Commons: The Precision Diabetes Consortium (PREDICT)
  3. Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Pediatric Diabetes Care 

Disease support organizations

RADIANT

RADIANT is a nonprofit organization is a network of universities, hospitals, and clinics across the United States dedicated to better understanding atypical diabetes. They collaborate with physicians and healthcare groups to identify people with atypical diabetes and learn more about their health.

American Diabetes Association (ADA)

ADA is a nonprofit organization funds research to prevent, cure, and manage diabetes, including atypical forms, and provides resources and support for patients and families.

Diabetes Research Institute Foundation (DRIF)

DRIF is a nonprofit organization is dedicated to finding a cure for diabetes through research and innovation, including studies on atypical diabetes.

Trusted sites

NORD Report, NIH Genetic and Rare Diseases Information Center, Diabetes Genes, GeneReviews: Monogenic Forms of Diabetes