Genetics

REGISTRATION IS NOW OPEN!

6th Annual Rare Disease Genomics Symposium: Population Genomics
Friday, March 1, 2019 • 8:00 a.m.– 3:45 p.m: Scientific Focus
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Demystifying The Rare Disease Journey from Diagnosis Treatment
Saturday, March 2, 2019 • 8:00 a.m.– 1:00 p.m: Patient & Caregiver Focus

Bradley Lecture Center • 4th Floor, Children's Harbor Building • Birmingham, Alabama

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The UAB Department of Genetics offers comprehensive genetic services for children and adults and we offer comprehensive prenatal services. Pediatric Genetics clinics are located on the sixth floor of the Dearth Tower in the McWane Building.

The UAB Undiagnosed Diseases Program (UDP) seeks to meet the needs of patients with severe chronic medical conditions for whom a diagnosis has not been made. The UDP team is led by four UAB Medicine faculty physicians and also includes a certified genetic counselor and two clinical nurse coordinators. UAB physicians from various medical and pediatric subspecialties serve as consultants and provide their expertise in each case as necessary. Additional information (PDF).

We also offer specialty clinics for:

• Prenatal Genetics
• Cancer Genetics
• Neurofibromatosis
• Tuberous Sclerosis
• Skeletal Dysplasia
• Connective Tissue Diseases
• Down Syndrome Clinic
• Inherited Metabolic Diseases
• Adult and Pediatric Cardiovascular Genetics, including Marfan Syndrome
• Metabolic Bone Clinic

Clinical Laboratory Services Include:

• Cytogenetics
• Biochemical Genetics
• Molecular Genetics

A list of common indications for referral to a geneticist include:

• Abnormal newborn screen for inherited disorder of metabolism
• Single or multiple birth defects (eg, congenital heart defect, orofacial cleft, facial dysmorphism, multiple/unusal birthmarks)
• Developmental Delay and/or Autism
• Hearing Loss (congenital)
• Short stature
• Family History of Genetic Disorder
• Known of suspected disease with a genetic cause

Physicians
Maria Descartes, MD
Bruce Korf, MD, PhD (Chair)
Edward Lose, MD
Nathaniel H. Robin, MD
S. Lane Rutledge, MD
Anna Hurst, MD, MS

Genetic Counselors
Kirstin Austin, MS, CGC
Fallon Brewer, MS, CGC
Aimee Brown, MS, CGC
Ashley Cannon, PhD, MS, CGC
Jessica Denton, MS, CGC
Meagan Farmer, MS, CGC
Alicia Gomes, MS, CGC
Dana Goodloe, MPH, MS, CGC
Katie Nelson, MS, CGC
Natasha Rudy, MS, CGC

Contact Us
To make and appointment for any clinic, please call 205-934-4983. Our FAX number is 205-975-6389.