Genetic and Functional Analysis of Cherubism

Description

The goal of this research study is to identify genes and regulatory elements on chromosomes that cause cherubism. Together with the investigators collaborators the investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The long-term goal of researchers involved in this study is to find mechanisms to slow down bone resorption in cherubism patients.

Conditions

Cherubism

Study Overview

Study Details

Study overview

The goal of this research study is to identify genes and regulatory elements on chromosomes that cause cherubism. Together with the investigators collaborators the investigators also study blood samples and tissue samples from patients to learn about the processes that lead to this disorder. The long-term goal of researchers involved in this study is to find mechanisms to slow down bone resorption in cherubism patients.

Identification of Mutations That Lead to Cherubism in Families and Isolated Cases and Studies of Cellular and Molecular Mechanisms

Genetic and Functional Analysis of Cherubism

Condition
Cherubism
Intervention / Treatment

-

Contacts and Locations

Farmington

University of Connecticut Health Center, Farmington, Connecticut, United States, 06030

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * cherubism; unaffected individuals only if part of a participating cherubism family
  • * no cherubism unaffected individuals only as part of a participating cherubism family

Ages Eligible for Study

to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

UConn Health,

Ernst J Reichenberger, PhD, PRINCIPAL_INVESTIGATOR, UConn Health

Study Record Dates

2025-12