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One or more keywords matched the following properties of Greeley, Siri Atma W.
PropertyValue
keywords monogenic diabetes
keywords neonatal diabetes
keywords congenital diabetes
overview Siri Atma W. Greeley, MD, PhD is an internationally recognized expert on monogenic diabetes. Since 2006, he has pursued patient-oriented and outcomes based clinical research, with a focus on neonatal diabetes. Anyone diagnosed with diabetes before 6 months of age is very likely to have an underlying monogenic cause. Almost 50% of these babies will have a mutation in one of the genes encoding the KATP channel that allows for switching from intensive insulin injections to incredibly good glycemic control on exclusive oral sulfonylurea treatment. Along with a variety of local and international collaborators, Dr. Greeley has made several key contributions to the overall understanding of monogenic forms of diabetes. Among his ongoing efforts are his role as the Chair appointed by the Pediatric Endocrine Society to led an international effort to develop consensus guidelines for diagnosis and management of congenital forms of diabetes With the support of Drs. Louis Philipson and Graeme Bell, Dr. Greeley conceived of and developed the web-based University of Chicago Monogenic Diabetes Registry (http://monogenicdiabetes.uchicago.edu) for those with known or suspected monogenic forms of diabetes. The Registry remains the only one of its kind in the Western Hemisphere and now includes well over 2500 participants (over 1400 probands with diabetes as well as family members), of whom over 700 are now known to have an underlying genetic cause. Of these, over 400 were diagnosed with diabetes under a year of age, of whom over 200 have a known monogenic cause (largely due to inclusion in studies at the University of Chicago). The Registry receives frequent inquiries from self-referring patients as well as from an expanding network of clinicians asking advice about interesting or difficult patients. Dr. Greeley is frequently invited to speak about his research, including national meetings of the American Diabetes Association, the Endocrine Society, the Pediatric Endocrine Society, and the American Association of Clinical Endocrinologists (AACE). Through the Registry, Dr. Greeley’s overall goal is to clarify phenotype/genotype correlations, response to treatment, and long-term outcome among the rare group of patients with various forms of monogenic neonatal diabetes. Dr. Greeley has over 50 publications, including several studies that have gained international attention and have helped to guide treatment considerations in these patients. With Elbert Huang, Dr. Greeley published the first and only formal cost-effectiveness analysis of genetic testing in neonatal diabetes, demonstrating that testing not only improves quality of life but also represents one of few examples of a medical advancement that is actually cost-saving. His ongoing studies include NIH- and American Diabetes Association funded efforts to understand sleep disturbances, brain functioning and mechanisms of insulin secretion in patients with KATP mutations, as well as the long-term neurodevelopmental consequences of diabetes that begins at a very young age.
One or more keywords matched the following items that are connected to Greeley, Siri Atma W.
Item TypeName
Concept Diabetes Mellitus, Type 1
Concept Diabetes Mellitus, Type 2
Concept Insulin
Concept Insulin Infusion Systems
Concept Insulin-Like Growth Factor I
Concept Mutation
Concept Receptor, Insulin
Concept Insulin Resistance
Concept Diabetes, Gestational
Concept Point Mutation
Concept Mutation, Missense
Concept Insulin-Secreting Cells
Concept Frameshift Mutation
Concept Diabetes Complications
Concept Diabetes Mellitus
Concept Insulin, Regular, Human
Academic Article Insulin gene mutations as a cause of permanent neonatal diabetes.
Academic Article Diagnosis and treatment of neonatal diabetes: a United States experience.
Academic Article Update in neonatal diabetes.
Academic Article Neonatal diabetes mellitus: a model for personalized medicine.
Academic Article Onset features and subsequent clinical evolution of childhood diabetes over several years.
Academic Article The cost-effectiveness of personalized genetic medicine: the case of genetic testing in neonatal diabetes.
Academic Article Neonatal diabetes: an expanding list of genes allows for improved diagnosis and treatment.
Academic Article HLA-DQ haplotypes differ by ethnicity in patients with childhood-onset diabetes.
Academic Article Creation of the Web-based University of Chicago Monogenic Diabetes Registry: using technology to facilitate longitudinal study of rare subtypes of diabetes.
Academic Article Tooth discoloration in patients with neonatal diabetes after transfer onto glibenclamide: a previously unreported side effect.
Academic Article Visuomotor performance in KCNJ11-related neonatal diabetes is impaired in children with DEND-associated mutations and may be improved by early treatment with sulfonylureas.
Academic Article I-Ag7-mediated antigen presentation by B lymphocytes is critical in overcoming a checkpoint in T cell tolerance to islet beta cells of nonobese diabetic mice.
Academic Article Elimination of maternally transmitted autoantibodies prevents diabetes in nonobese diabetic mice.
Academic Article The role of t/b lymphocyte collaboration in the regulation of autoimmune and alloimmune responses.
Academic Article NOD B-cells are insufficient to incite T-cell-mediated anti-islet autoimmunity.
Academic Article Impaired activation of islet-reactive CD4 T cells in pancreatic lymph nodes of B cell-deficient nonobese diabetic mice.
Academic Article B-cell deficiency and type 1 diabetes.
Academic Article Hypoglycaemia following diabetes remission in patients with 6q24 methylation defects: expanding the clinical phenotype.
Academic Article Gain-of-function mutations in the K(ATP) channel (KCNJ11) impair coordinated hand-eye tracking.
Academic Article Cost-effectiveness of MODY genetic testing: translating genomic advances into practical health applications.
Academic Article Microcephaly, epilepsy, and neonatal diabetes due to compound heterozygous mutations in IER3IP1: insights into the natural history of a rare disorder.
Academic Article Sulfonylurea treatment before genetic testing in neonatal diabetes: pros and cons.
Academic Article Neonatal diabetes, gallbladder agenesis, duodenal atresia, and intestinal malrotation caused by a novel homozygous mutation in RFX6.
Academic Article Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.
Academic Article Extremely Early Onset IPEX Syndrome Caused by a Novel Small Exonic Deletion in FOXP3.
Academic Article Successful transition from insulin to sulfonylurea therapy in a patient with monogenic neonatal diabetes owing to a KCNJ11 F333L [corrected] mutation.
Academic Article Genetics and pathophysiology of neonatal diabetes mellitus.
Academic Article Response letter to the editor.
Academic Article Role of noninsulin therapies alone or in combination in chromosome 6q24-related transient neonatal diabetes: sulfonylurea improves but does not always normalize insulin secretion.
Academic Article Age at the time of sulfonylurea initiation influences treatment outcomes in KCNJ11-related neonatal diabetes.
Academic Article Continued lessons from the INS gene: an intronic mutation causing diabetes through a novel mechanism.
Academic Article An online monogenic diabetes discussion group: supporting families and fueling new research.
Academic Article Successful rhIGF1 treatment for over 5 years in a patient with severe insulin resistance due to homozygous insulin receptor mutation.
Academic Article GCK-MODY in the US National Monogenic Diabetes Registry: frequently misdiagnosed and unnecessarily treated.
Academic Article Patients with KCNJ11-related diabetes frequently have neuropsychological impairments compared with sibling controls.
Academic Article Preservation of Reduced Numbers of Insulin-Positive Cells in Sulfonylurea-Unresponsive KCNJ11-Related Diabetes.
Academic Article ADHD, learning difficulties and sleep disturbances associated with KCNJ11-related neonatal diabetes.
Academic Article Early Intensive Insulin Use May Preserve ß-Cell Function in Neonatal Diabetes Due to Mutations in the Proinsulin Gene.
Academic Article Hypoglycemia in sulfonylurea-treated KCNJ11-neonatal diabetes: Mild-moderate symptomatic episodes occur infrequently but none involving unconsciousness or seizures.
Academic Article Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 9 affected individuals.
Academic Article FOXP3 mutations causing early-onset insulin-requiring diabetes but without other features of immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome.
Academic Article Diabetes Presentation in Infancy: High Risk of Diabetic Ketoacidosis.
Academic Article ISPAD Clinical Practice Consensus Guidelines 2018: The diagnosis and management of monogenic diabetes in children and adolescents.
Academic Article Precision medicine in KCNJ11 permanent neonatal diabetes.
Academic Article Congenital Diabetes: Comprehensive Genetic Testing Allows for Improved Diagnosis and Treatment of Diabetes and Other Associated Features.
Academic Article Neonatal Diabetes Mellitus: An Update on Diagnosis and Management.
Academic Article Pancreatic Histopathology of Human Monogenic Diabetes Due to Causal Variants in KCNJ11, HNF1A, GATA6, and LMNA.
Academic Article Monogenic diabetes: the impact of making the right diagnosis.
Academic Article Management and pregnancy outcomes of women with GCK-MODY enrolled in the US Monogenic Diabetes Registry.
Award or Honor Receipt 3rd DMDEA Gold Medal Oration Award
Award or Honor Receipt Lewis-Sebring Family Foundation Fellow in Diabetes Genetics
Grant Monogenic Diabetes: Next Generation Diagnosis, Treatment and Complications
Grant Chicagoland Diabetes TrialNet Clinical Center
Grant Incretin Regulation of Insulin Secretion in Human Neonatal Diabetes
Grant KCNJ11 Diabetes: Exploring the Role of KATP Channels in the Brain
Grant Pediatric Endocrinology Research Training Grant
Academic Article Congenital forms of diabetes: the beta-cell and beyond.
Academic Article GCK-MODY in the US Monogenic Diabetes Registry: Description of 27 unpublished variants.
Academic Article Iatrogenic Hyperinsulinemia, Not Hyperglycemia, Drives Insulin Resistance in Type 1 Diabetes as Revealed by Comparison With GCK-MODY (MODY2).
Academic Article Trisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated.
Academic Article Precision Medicine: Long-Term Treatment with Sulfonylureas in Patients with Neonatal Diabetes Due to KCNJ11 Mutations.
Academic Article Update of variants identified in the pancreatic ß-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
Academic Article Using a Do-It-Yourself Artificial Pancreas: Perspectives from Patients and Diabetes Providers.
Academic Article Long-term Follow-up of Glycemic and Neurological Outcomes in an International Series of Patients With Sulfonylurea-Treated ABCC8 Permanent Neonatal Diabetes.
Academic Article Monogenic Diabetes: From Genetic Insights to Population-Based Precision in Care. Reflections From a Diabetes Care Editors' Expert Forum.
Academic Article Novel compound heterozygous LRBA deletions in a 6-month-old with neonatal diabetes.
Academic Article The Do-It-Yourself Artificial Pancreas.
Academic Article Developmental defects and impaired network excitability in a cerebral organoid model of KCNJ11 p.V59M-related neonatal diabetes.
Academic Article Growth and development in monogenic forms of neonatal diabetes.
Academic Article Novel KDM6A Kabuki Syndrome Mutation With Hyperinsulinemic Hypoglycemia and Pulmonary Hypertension Requiring ECMO.
Academic Article Insight on Diagnosis and Treatment From Over a Decade of Research Through the University of Chicago Monogenic Diabetes Registry.
Academic Article ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of monogenic diabetes in children and adolescents.
Academic Article Acute Recurrent Pancreatitis in a Child With INS-Related Monogenic Diabetes and a Heterozygous Pathogenic CFTR Mutation.
Academic Article Insulin Deficiency From Insulin Gene Mutation Leads to Smaller Pancreas.
Concept Loss of Function Mutation
Concept Gain of Function Mutation
Academic Article Systematic Review of Treatment of Beta-Cell Monogenic Diabetes.
Academic Article Second international consensus report on gaps and opportunities for the clinical translation of precision diabetes medicine.
Academic Article Longitudinal Assessment of Pancreas Volume by MRI Predicts Progression to Stage 3 Type 1 Diabetes.
Academic Article A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life.
Academic Article RFX6 regulates human intestinal patterning and function upstream of PDX1.
Search Criteria
  • Insulin
  • mutations
  • diabetes