Hassan Vahidnezhad, MSc, PhD
Children’s Hospital of Philadelphia
Childhood eczema, also called atopic dermatitis (AD), is the most common skin disease in children, is characterized by inflammation and itching, and is often associated with a history of atopy in patients or their families. AD is a complex disease that has a mainly multifactorial etiology. But there is a small subset of patients with unifactorial etiology (1% to 5% of AD cases) caused by a mutation in a single gene that is highly penetrant and afflicts 1% of any normal population. Recent widespread use of genome/exome sequencing made it possible to determine this high-risk single-gene (Mendelian) subset from a larger group of patients with multifactorial etiology. Even though there have been reports of several cases of monogenic AD, it is not clear how useful genetic testing is in a clinical setting, and genetic testing is rarely incorporated into clinical assessments. To find out how useful genetic testing is and to encourage broader molecular testing, we want to perform genome sequencing on a cohort of 10,000 pediatric patients with 67% African American background that is not well-represented. We will look for rare single-gene mutations causing AD and try to find correlations between genotypes and phenotypes. Our research will provide justifications for adding genetic testing to the way AD cases are cared for. Our research will also help people with AD by giving them genetic counseling and making it easier to come up with new treatments based on a clear understanding of how the disease starts.
This study was funded through the 2023 Childhood Eczema Challenge Grant.