STRONG>Pediatric Genetic Evaluations
Approximately three percent of all living newborns have a birth defect or health problem. These conditions may be evident shortly after birth or later in the child's life. A study published in 2004 in the American Journal of Human Genetics found that a significant genetic component was found in 71% of children admitted to pediatric hospitals (AJHG 74:121-127, 2004).

Children who are not reaching developmental milestones or have characteristics of a genetic condition may be referred to one of Emory Genetics' Specialty or General Pediatric Genetics Clinic. Specialty clinics are held for patients with Inherited Metabolic Disorders, Down Syndrome, Fragile X (coming soon), Neurofibromatosis, Lysosomal Storage Diseases, and Craniofacial Disorders. Appointments are scheduled at the Emory Children's Center, located on the campus of Emory University, and at Children's Healthcare of Atlanta at Scottish Rite Hospital. Families meet with a team of genetic professionals, including an M.D. Clinical Geneticist. Scroll down for more information on an individual clinic. Potential reasons for pediatric genetic counseling & e valuation include a child with a:

• birth defect, or suspected birth defect
• suspected or diagnosed genetic syndrome
• chromosomal syndrome
• metabolic disorder
• developmental delay
• family history of a genetic condition

Adult Genetic Evaluations
At least 12% of adult hospital admissions are for genetic causes (Emory, Rimoin, 1990) 10% of the chronic diseases (heart, diabetes, arthritis) which occur in the adult populations have a significant genetic component (Weatherall, 1985) and up to 10% of all cancers have an inherited susceptibility. The Emory Medical Genetics Division cares for adults who are at risk to inherit an adult-onset genetic condition or those seeking treatment for a pre-diagnosed genetic disorder. A strong family history of cancer, heart disease, diabetes or other potentially inherited conditions may warrant an evaluation with a geneticist physician or counselor at our clinic. Depending on the individual case, a person may be given predictive, pre-symptomatic or diagnostic tests to identify genetic risk factors, along with consultation about options for management or treatment. Potential reasons for adult genetic counseling & evaluation include an adult with a:

• genetic condition who would like periodic monitoring by a specialist
• family history of a genetic condition
• strong family history of common adult onset disorders such as heart disease, senility, or diabetes
• strong family history of cancer

Appointments or additional information: 
The Emory Genetics team works at a variety of locations and offices to service the diverse needs of patients and physicians. Depending on the nature of the appointment, our physicians and counselors can meet with patients at one of many locations throughout Atlanta and the state. Appointment numbers are listed below by type of evaluation and location.


Pediatrics:

Call Emory Genetics (404) 778-8570 for:

• General genetics clinic
• Metabolic genetics clinic
• Down syndrome clinic
• Fragile-X clinic
• Lysosomal storage disease clinic (click here for more information about this clinic, or call them directly at (404)778-8518).

Call Children's Healthcare of Atlanta at Scottish Rite Hospital (404)785-2672 for:

• General genetics clinic
• Neurofibromatosis clinic
• Craniofacial clinic
• Muscular dystrophy clinic

Satellite Clinics for Pediatric Genetic Evaluations

• Athens (706)542-9653
• Columbus (706)327-0644
• Dalton (706)272-2219, ext. 45
• Gainesville (770)531-4055
• Macon (478)751-6253

Adults:

Call Emory Genetics at (404) 778-8570 for:

• General genetics clinic
• Metabolic genetics clinic
• Lysosomal storage disease clinic (click here for more information about this clinic, or call (404) 778-8518).

Cancer Genetic Counseling Appointments at Emory Genetics: (404) 778-8549

Cancer Genetic Counseling Appointments in Macon, Georgia: (478) 633-6329

Information About Our Clinics:

General Genetics Clinic
The general genetics clinic serves children and adults with known or suspected genetic conditions. Our team includes both physicians and genetic counselors. We evaluate children with developmental delay, birth defects, and many other health problems with the goal of determining the underlying reason for the various problems that the child may be experiencing. We also evaluate adults who are suspected of having genetic conditions such as Marfan syndrome, Ehlers-Danlos syndrome, a hereditary ataxia, and various other inherited conditions. If you have questions about our general genetics clinic, or if you would like to make an appointment for an evaluation by one of our clinical geneticists, please call (404) 778-8570 (Emory Genetics) or (404)785-2672 (Scottish Rite).
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Metabolic Genetics Clinic
The metabolic genetics clinic serves children and adults with diagnosed metabolic conditions such as PKU, galactosemia, and MSUD. Our team consists of clinical geneticists, a metabolic nutritionist, and registered dieticians. In addition to evaluating and managing both children and adults with inherited metabolic disorders, our metabolic team also provides specialized cooking classes, a metabolic summer camp, and a metabolic store for the purchase of the required special formulas and foods. If you have questions about our metabolic clinic, or if you would like to make an appointment in our metabolic clinic, please call (404)778-8570.
 
Down Syndrome Clinic
The Down syndrome clinic serves children from newborn to age 3. Our team includes physicians and staff who have extensive experience in genetics and development with an emphasis on the needs of individuals with Down syndrome and their families. Each family?s visit is a private appointment. During your clinic visit, we will review your child?s chromosome studies, complete a physical examination, provide a comprehensive developmental evaluation, discuss the recommended healthcare guidelines for children with Down syndrome, and, most importantly, address any concerns or answer questions you might have. To schedule an appointment, please call Shelley Dills at (404)778-8524.
 
Fragile X Syndrome Clinic
The Fragile X syndrome clinic serves children from newborn to age 18. Similar to the Down Syndrome Clinic, our team includes physicians, scientists, and staff who have extensive experience in genetics and development with an emphasis on the needs of individuals with Fragile X syndrome and their families. Each family?s visit is a private appointment. During your clinic visit, we will review your child's genetic results, complete a physical examination, provide a comprehensive developmental evaluation, discuss the recommended healthcare guidelines for children with Fragile X syndrome, offer genetic testing for family members, and, most importantly, address any concerns or answer questions you might have. To schedule an appointment, please call Shelley Dills at (404)778-8524.

Lysosomal Storage Disease Clinic
The lysosomal storage disease clinic serves children and adults with known or suspected lysosomal storage diseases. There are a variety of genetic conditions caused by inactive or missing enzymes in the body. One category of these conditions, known as lysosomal storage diseases, can be treated with enzyme replacement therapy (ERT), which provides a patient with a genetically engineered enzyme. Lysosomes contain materials that allow cells to digest and recycle macromolecules. In the absence of sufficient quantities of a given enzyme complex, these substances accumulate in the cell and eventually kill it and the organ involved.

The Emory Lysosomal Storage Disease Center was established in 1993 to provide diagnostic, evaluation, management and treatment services for Type I Gaucher Disease, a lysosomal disorder. Gaucher disease was the first genetic disorder treated effectively with enzyme therapy. Since that time, ERT has saved hundreds of patients who take it intravenously, twice a month. The use of this revolutionary life-saving therapy is being investigated for other lysosomal storage conditions including Fabry disease, Mucopolysaccharidoses, and Pompe disease. To schedule an appointment please call (404) 778-8518.

Neurofibromatosis Clinic
The neurofibromatosis (NF) clinic at Children's Healthcare of Atlanta at Scottish Rite serves children with a confirmed diagnosis of neurofibromatosis type 1 or neurofibromatosis type 2. The NF clinic allows for a comprehensive visit with evaluations by Genetics, Dermatology, Orthopedics, Neurology, Psychology and Social Work. We also have ongoing relationships with specialists in Ophthalmology, Plastic Surgery and Neurosurgery who are experienced in the evaluation and care of children with NF. Please note that before a child with suspected NF can be seen in the NF clinic, the child must first be evaluated in our general genetics clinic for confirmation of the diagnosis. If you have questions regarding NF clinic, or if you would like to make an appointment for a child that has a confirmed diagnosis of NF by one of our physicians, please call (404)785-4602.
 
Craniofacial Clinic
The Craniofacial Center at Children's Healthcare of Atlanta at Scottish Rite provides subspecialty consultation in a multidisciplinary clinic setting. The purpose of providing genetics services as a part of a multidisciplinary setting is to assess and diagnose craniofacial disorders in infants and children with cleft lip (with or without cleft palate), craniosynostosis, eye and ear anomalies, and other craniofacial abnormalities, and to provide counseling information to families accordingly. If you have questions regarding craniofacial clinic, or if you would like to make an appointment for a child with a craniofacial disorder, please call (404)785-2239.
 
Muscular Dystrophy Clinic
The Muscular Dystrophy Association (MDA) Clinic at Children's Healthcare of Atlanta at Scottish Rite provides subspecialty consultation in a multidisciplinary clinic setting. Infants and children with a confirmed muscle disorder are seen for consultation along with other team members, and genetic counseling is provided as a part of this team visit. Infants with confirmed diagnoses of muscle disorders such as Duchenne muscular dystrophy, spinal muscular atrophy, Charcot-Marie-Tooth, Friedreich Ataxia, and various other congenital myopathies are appropriate for this clinic. If you have questions regarding the MDA clinic, or if you would like to make an appointment for a child with a confirmed muscle disorder, please call (404)785-4595.

Southeastern Regional Center of Excellence for 22q
http://www.route22q.org/