This page is dedicated to the Disorders of Voiding research study, one of 57 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 Disorders of Voiding research study, established at Boston Children’s in 2023 and led by Drs. Nina Mann, Ted Lee, and Richard Lee, has enrolled 44 patients and their families.
Disease Information
Disorders of voiding include abnormalities in filling, storage, and emptying of urine and can have profound effects on quality of life. In severe cases, they can lead to kidney damage.
In his interview on Youtube: Meet Dr. Ted Lee, MD | Boston Children's Hospital, Dr. Ted Lee discusses why he believes that genetics will drive personalized care for individuals. Dr. Richard Lee further emphasizes the leading edge technology that allows faster patient care in his Youtube interview: Caregiver Profile: Richard Lee, MD | Boston Children's Hospital. Learn more about Boston Children’s Voiding Improvement Program.
Genes of Interest
ADRB3 COL1A1 HPSE2 LRIG2 MYOCD TSHZ3 CHRNA3 EBF3 LMOD1 MYH11
Participate in Research
Physicians may refer their patients with disorders of voiding to Drs. Mann, Ted Lee, or Richard Lee. Once study eligibility is confirmed, a research coordinator will reach out to the family to consent and enroll them. To learn more about their research, including the Disorder of Voiding research study, view their publications and profiles: Dr. Nina Mann, Dr. Ted Lee, Dr. Richard Lee.
Patient Care
Patients and their families with disorders of voiding can be seen by expert multidisciplinary teams in the Center for Healthy Elimination and Bladder Rehabilitation (CHEER) and Voiding Improvement Program at Boston Children’s.
Investigators
Divisions
Notable Publications by Investigators
- Genetic Contributions to Lower Urinary Tract Dysfunction
- Trio Exome Sequencing Implicates Wnt Signaling in the Pathogenesis of Bladder-Exstrophy-Epispadias Complex: FR-PO669
Disease Support Organizations
World Federation for Incontinence and Pelvic Problems
World Federation for Incontinence and Pelvic Problems (WFIPP) is a federation of national (patient) organizations or institutions that aims to create a global visibility for incontinence and pelvic floor dysfunction, whereby the key objectives are awareness, advocacy and action.
National Kidney Foundation
National Kidney Foundation (NKF) is the largest patient-centric nonprofit organization dedicated to the awareness, prevention, and treatment of kidney disease in the United States.