Alexander
G. Bassuk, MD, PhD
Assistant
Professor
Pediatrics and Neurology
Northwestern University's Feinberg School of Medicine
Children's Memorial Hospital and Spina Bifida Clinic
To contact Dr. Bassuk:
303 E. Chicago Ave.
Ward Building 10-233
Chicago, IL 60611
Lab Phone: 312-503-2795
E-mail: a-bassuk@md.northwestern.edu
Research Interests:
The overall goal of the work of Dr. Alex Bassuk is to identify genetic factors that contribute to human neural tube defects (NTDs) and ultimately to define the molecular mechanisms underlying the disorders. NTDs are among the most common birth defects, occurring in 1/1000-1/3000 births. Children’s Memorial Hospital Spina Bifida Clinic represents one of the largest populations of patients with NTDs, caring for over 1500 NTD patients per year. They have collected clinical, radiological and epidemiological data from over 1500 patients with NTDs, and over 1800 samples of DNA have been collected from NTD patients or family members. While environmental factors including maternal toxin exposure, maternal hypo-folate status, and maternal hyperglycemia may account for 70% of NTDs, genetic factors are known to play a role. Although nearly 100 genes influence NTDs in mouse models, a precise genetic etiology for human NTDs has rarely been established (except in unusual syndromic cases) and no single gene has been clearly linked to human NTDs. Dr. Bassuk’s focus is to de-identify the genetic factors involved in human NTDs. Identification of genes that place families at risk might help reduce the incidence of NTDs or make early intervention more feasible. It would also allow detailed phenotype-genotype correlations and facilitate investigation of gene-gene and gene-environment interactions that lead to NTDs.