The Division of Medical Genetics in the Department of Pediatrics at Saint Louis University is committed to providing high-quality clinical and educational services and advancing medical genetics research.
We educate medical students, residents and practicing health care providers. Our division's faculty contributes many of the lectures to the Cell and Molecular Biology course for the first year medical students. In addition, we provide numerous presentations throughout the year to residents, physicians, allied health professionals and the lay public, including area high schools.
The Molecular Cytogenetics Laboratory at SSM Health Cardinal Glennon Children's Hospital offers a comprehensive menu of tests which includes chromosomal microarray analysis, fluorescence in-situ hybridization, as well as chromosome analyses of amniotic fluid, products of conception, peripheral blood, bone marrow, lymph nodes and solid tumors.
The lab serves hospitals in Missouri and southern Illinois. It also provides cytogenetic rotations for pathology, pediatric residents and oncology fellows and exploration venues for undergraduate students.
Children and adults are evaluated for a broad range of genetic conditions in the General Genetics Clinic. Common referral indications include:
Evaluation, genetic counseling and state-of-the-art diagnostic testing are available. Clinics are held at SSM Health Cardinal Glennon Children's Hospital.
The Metabolic Genetics Clinic at the SSM Health Cardinal Glennon Children's Hospital provides specialized care for pediatric and adult patients with inherited metabolic conditions. Many of patients have been identified through the Missouri and Illinois newborn screening programs. The services provided include confirmatory testing, genetic evaluation, genetic counseling and dietary management. Metabolic genetics encompasses a wide spectrum of conditions:
Couples at risk for offspring with a birth defect or genetic condition based on abnormal test results, age or family history, as well as those with concerns about medication or environmental exposures during pregnancy, may benefit from our services. Genetic counseling is offered along with optional testing such as detailed ultrasound examination, non-invasive prenatal testing, sequential screening, chorionic villus sampling, amniocentesis and carrier screening. We offer these services throughout the SSM Maternal and Fetal Care Center network. Physicians can refer their patients to one of these clinics by contacting the SSM Maternity Care Maternal Access Center at 1-888-636-7542.
St. Louis Fetal Care Institute is one of only a handful of fetal centers nationwide to offer open and minimally invasive fetal surgery. This center is comprised of a multidisciplinary team including specialists from genetics, pediatric surgery and maternal fetal medicine. The Institute is located at SSM Health Cardinal Glennon Children's Hospital.
An estimated 5 to 10 percent of cancers are caused by hereditary factors. Some of the cancers that may be inherited include: breast, colon, uterine, ovarian, melanoma, stomach, thyroid, kidney and pancreatic cancer. The Cancer Genetics Program is designed to help individuals who are concerned about a hereditary cause for their personal or family history of cancer.
Genetic counselors who specialize in cancer genetics review a person's medical and family history, provide information about cancer genetics, and help individuals make informed decisions about genetic testing. Individuals who have a personal or family history that includes any of the following may benefit from our program:
These services are offered at SSM Health Cardinal Glennon Children's Hospital, SSM Health St. Mary's, St. Claire, DePaul and St. Joseph's Medical Park (St. Charles).
The Marfan Syndrome and Familial Aortopathy Clinic at the SSM Health Cardinal Glennon Children's Hospital provides specialized care to patients with Marfan syndrome and related connective tissue disorders. This multidisciplinary clinic provides comprehensive evaluations and long term management for new and established patients. The services provided include cardiovascular imaging, thorough physical examination, genetic counseling, and confirmatory testing if indicated. The Marfan syndrome and Familial Aortopathy Clinic at the SSM Health Cardinal Glennon Children's Hospital is recognized by the Marfan Foundation.
This multidisciplinary clinic is the only one in Missouri where a patient can be seen by several specialists (geneticist, neurologist, orthopedist, ophthalmologist, genetic counselor) in one convenient appointment.
To increase accessibility to genetic services, outreach clinics are held at two locations in southern Illinois:
Services provided at outreach clinics include: general genetics evaluation and follow-up, cancer, preconception and metabolic follow-up evaluations. Outreach clinics are made possible by funds received from the Illinois Department of Health.
The research interests of our faculty cover both basic science and clinical areas of medical genetics. Are are also involved in basic research of lysosomal storage disorders, newborn screening and development and treatments in SLU's Doisy Research Center. In addition, we are involved in clinical research including syndrome identification, teratology, cytogenomics and inborn errors of metabolism both intra and extramurally.
Teodorescu, Cristiana F., Teodorescu, Cristiana F., Zand, Debra H. (Co-Principal), Dempsher, David P., Maxwell, Marilyn A. (Other), Teckman, Jeffrey H., Braddock, Barbara A., Maxim, Rolanda (Principal), Knutsen, Alan P., Paruthi, Shalini, Goretzke, Sean Everett, Heaney, Mary Susan (Other), Braddock, Stephen R., "Autism Treatment Network - 2014 Cycle," Sponsored by Autism Speaks (September 1, 2014 - August 31, 2017).
Braddock, Stephen R. (Principal), Torti, Erin E. (Other), McNeil, Lisa M. (Other), Zasaretti, Loletta A. (Other), Christensen, Katherine M (Other), Hefner, Margaret A. (Other), Waldman, Laura M. (Other), "Genetic Disease Program Services," Sponsored by Missouri Department Of Health & Senior Services (July 1, 2013 - May 31, 2017).
Wilmott, Robert W. (Other), Cooper, Amy I. (Other), Wooldridge, Jamie L. (Other), Sobush, Kurtis T. (Other), Noyes, Blakeslee E. (Principal), Knutsen, Alan P. (Other), Teckman, Jeffrey H. (Other), Braddock, Stephen R.(Other), Kociela, Vikki (Other), Albers, Gary M (Co-Investigator), "FY 2015-2016 MO - 171/171 - Cardinal Glennon Children's Medical Center (SLU)," Sponsored by Cystic Fibrosis Foundation (July 1, 2015 - June 30, 2016).
Zasaretti, Loletta A. (Other), Torti, Erin E. (Other), Christensen, Katherine M (Other), Braddock, Stephen R. (Principal), McNeil, Lisa M. (Other), "Genetic Counseling 2016," Sponsored by Illinois Public Health. (July 1, 2015 - June 30, 2016).
Rauchman, Michael I. (Collaborator), Bradshaw, Rachael J. (Collaborator), Feldenberg, Louis Richard (Principal), June, Betty (Collaborator), "Proof of Concept Study: Identifying Genetic Causes of Congenital Renal Disease," Sponsored by SSM St. Mary's Health Center Foundation. (October 12, 2015 - September 13, 2016).
Noyes, Blakeslee E. (Principal), Christensen, Katherine M (Other), Thomas, Bridgette C. (Other), "FY15 Newborn Screening for Cystic Fibrosis," Sponsored by Missouri Department Of Health & Senior Services. (July 1, 2014 - May 31, 2017).
Braddock, Stephen R. (Principal), Torti, Erin E. (Other), McNeil, Lisa M. (Other), Zasaretti, Loletta A. (Other), Christensen, Katherine M (Other), Hefner, Margaret A. (Other), Waldman, Laura M. (Other), "Genetic Disease Program Services," Sponsored by Missouri Department Of Health & Senior Services. (July 1, 2013 - May 31, 2017).
Zasaretti, Loletta A. (Other), Torti, Erin E. (Other), Christensen, Katherine M (Other), Braddock, Stephen R. (Principal), McNeil, Lisa M. (Other), "Genetic Counseling 2016," Sponsored by Illinois Public Health (July 1, 2015 - June 30, 2016).
Montano, Adriana Maria (Principal), "Manifestations of Cardiovascular Disease in Morquio A: Evaluation, Assessment, and Therapy," Sponsored by National MPS Society (November 1, 2013 - October 31, 2016).
Gottesman, Gary S. (Key Personnel), Tomatsu, Shunji (Principal), Montano, Adriana Maria (Principal), "Newborn Screening and Biomarkers for Mucopolysaccharidoses," Sponsored by National Institutes of Health (April 2012 - June 2016).
Montano, Adriana Maria (Principal), "Effects of Miglustat on Hypophosphatasia Mouse Model," Sponsored by Actelion Pharmaceuticals, Ltd. (November 2014 – October 2016).
Westfall, Thomas C. (Mentor), Zahm, Daniel S. (Mentor), Montano, Adriana Maria (Mentor), Butler, Andrew (Mentor), Zhang, Jinsong (Mentor), Knuepfer, Mark M. (Mentor), Neuschwander-Tetri, Brent A. (Mentor), Baldan, Angel (Mentor), Meyers, Marvin J. (Mentor), Walker, John K. (Mentor), Ford, David Alexander (Mentor), Macarthur, Heather (Mentor), Ray, Ratna B. (Mentor), Voigt, Mark M. (Principal), Westfall, Thomas C. (Mentor), Martin, Robert Scott (Mentor), Farr, Susan A. (Mentor), Rezaie, Alireza R. (Mentor), Samson, Willis Kendrick (Mentor), Salvemini, Daniela (Mentor), Aurora, Rajeev (Mentor), Harkins, Amy B. (Mentor), Lin, Reigh-Yi (Mentor), Heyduk, Tomasz (Mentor), Cho, Thomas Yoonsang (Mentor), Burris, Thomas P (Principal), Egan, Terrance M. (Principal), Kisselev, Oleg G. (Mentor), Neckameyer, Wendi S. (Mentor), Edwards, John C. (Mentor), "Pharmacological Sciences Training Grant," Sponsored by National Institutes of Health, (July 2016–June 2021)
Flanagan, Michael B. (Post-Doc), Montano, Adriana Maria (Principal), "Biomarkers of Cardiovascular Disease of Morquio A," Sponsored by Children's Cardiovascular Foundation (January 2017 – December 2018)