Genetics, Emerging Diagnostics & Therapies

Genetics, Emerging Diagnostics & Therapies

11:00 AM – Prenatal Suspicion for Turner Syndrome-What's Next?
Wendy Brickman, MD, Elizabeth Leeth, MS, CGC

11:30 AM – Spinal Muscular Atrophy: The Changing Face and New Treatments
Nancy Kuntz, MD

12:00 PM – Imaging and Genetic Diagnosis in Fetal Skeletal Dysplasia
Xavier Pombar, DO, Mickey Kuo, MD

Moderators: Meghan Coghlan, MD & Xavier Pombar, MD

Wendy Brickman, MD

Wendy Brickman, MD

Attending Physician, Endocrinology Associate Professor of Pediatrics, Northwestern University Feinberg School of Medicine

Lurie Children's Hospital, Northwestern University Feinberg School of Medicine

I am an associate professor at Northwestern University's Feinberg School of Medicine and an attending physician at the Ann and Robert H. Lurie Children's Hospital of Chicago, splitting my time between research and clinical care. I have been fortunate to train and practice at Lurie Children's. Prior to practicing medicine I pursued advanced degrees in secondary education and biochemistry, both of which have enhanced my skills as a pediatrician.   I am honored and privileged to be part of the care team for the many children and their families I see.  I am dedicated to educating youth and their parents about their disorder, so they can take the best care of themselves as possible.  In my free time I enjoy audio books and hiking the National Parks.

Elizabeth Leeth, MS, CGC

Elizabeth Leeth, MS, CGC

Genetic Counselor III, Edwards Family Division of Genetics and Rare Diseases

Lurie Children's Hospital, Northwestern University Feinberg School of Medicine

Ms. Leeth received her Master of Science in Genetic Counseling from Indiana University. Ms. Leeth practiced prenatal genetics, teaching, and team management for over 20 years. In 2014, she had the opportunity to be involved in the development of the Lab Utilization Program at Lurie Children's. She also facilitated incorporating genetic counseling services into the multidisciplinary Sex Development Clinic at Lurie Children's. She enjoys both the educational and clinical aspects of her roles.

Nothing to Disclose

Nancy Kuntz, MD

Nancy Kuntz, MD

Attending Physician, Division of Neurology; Medical Director, Mazza Foundation Neuromuscular Program; Director, Muscular Dystrophy Association Care Center Professor of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine

Lurie Children's Hospital, Northwestern University Feinberg School of Medicine

Dr. Nancy Kuntz is a child neurologist with additional board certifications in Pediatrics, Electrodiagnostic Medicine and Autonomic Medicine. Dr. Kuntz joined the Departments of Pediatrics and Neurology at Northwestern Feinberg School of Medicine in December 2009 and is Medical Director of the Mazza Foundation Neuromuscular Disorders Program, the PPMD Duchenne Care Center and the MDA Care Center at Lurie Children’s. Before relocating to Chicago, Dr. Kuntz was part of the Department of Neurology at Mayo Clinic Rochester where she did her training in child neurology and clinical electromyography and developed experience treating neuromuscular disorders in children. Dr. Kuntz is interested in the development of less invasive methods of neuromuscular diagnosis in children and serves as site Principal Investigator in a number of clinical treatment trials for neuromuscular disorders in children.

Xavier Pombar, DO

Xavier Pombar, DO

Maternal-Fetal Medicine Specialist; Attending Physician; Associate Professor of Maternal-Fetal Medicine; Director of Maternal-Fetal Medicine

The Chicago Institute for Fetal Health; Lurie Children’s; Rush University Medical Center; Silver Cross Hospital

Dr. Xavier Fernando Pombar, DO, is a Maternal–Fetal Medicine specialist with Northwestern Medicine. He earned his Doctor of Osteopathy degree from the New York Institute of Technology College of Osteopathic Medicine in 1986 and went on to complete his internship at New York-Presbyterian Brooklyn Methodist Hospital in 1987. He completed his residency in Obstetrics and Gynecology at NYU School of Medicine/Brooklyn Campus in 1991, followed by a fellowship in Maternal–Fetal Medicine at Rush University Medical Center in 1994 and advanced training at UCHealth University of Colorado Hospital in 1995. Dr. Pombar specializes in high-risk pregnancy care with expertise in alloimmunization, amniocentesis, fetal anomaly detection, first trimester screening, multiple gestations, prenatal diagnosis, and Level II ultrasound.

Mickey Kuo, MD

Mickey Kuo, MD

Attending Physician, Edwards Family Division of Genetics and Rare Diseases Assistant Professor, Pediatrics (Genetics, Genomics, and Metabolism), Northwestern University Feinberg School of Medicine

Lurie Children's Hospital, Northwestern University Feinberg School of Medicine

Attending Physician, Edwards Family Division of Genetics and Rare Diseases

Assistant Professor, Pediatrics (Genetics, Genomics, and Metabolism), Northwestern University Feinberg School of Medicine

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Genetics, Emerging Diagnostics & Therapies
Select the "View On-Demand Recording" button to begin.  |  90 minutes
Select the "View On-Demand Recording" button to begin.  |  90 minutes