Clinical Genetics & Metabolic Disorders
Children’s Hospital New Orleans Genetic Disorder Treatment
A genetic disorder is a disease caused by an abnormality in the DNA. The disorder may be apparent immediately after birth or manifest as the child grows older. These disorders may be inherited from a single parent or the result of several inherited genes interacting and put under stress from environmental factors. There is a wide range of genetic diseases; in fact, it has been discovered that genetics play a role in most diseases a person develops.
The Department of Genetics provides the diagnosis and management of a complete range of genetic disorders including:
- Genetic syndromes
- Chromosomal disorders
- Metabolic disorders
- Genetic causes of autism and intellectual disabilities
- Connective tissue disorders
- Skeletal dysplasia
- Hereditary neurological disorders
- Hereditary hearing loss
- Congenital anomalies
- Family history of genetic diseases
- other genetic conditions
The department offers various specialty clinics including cleft lip/palate, Down syndrome, neurofibromatosis, connective tissue disorders, PKU and other metabolic disorders. Genetic counseling and specialty consultations services are also available. The department serves as one of the referral centers for follow-up evaluations of patients who have presumptive positive newborn screens with the Louisiana Newborn Screening (NBS) Program.
Treating genetic disorders
The study of genetics is one of the most promising medical research areas, but we are still a long way from finding a cure for most genetic diseases. Treatment usually focuses on managing symptoms and preventing the manifestation of diseases a person has an increased risk for.
One of the rising treatments for genetic disorders is gene therapy. Though still experimental, this treatment aims to replace mutated genes with “normal” ones in order to cure the condition. At this time, gene therapy is still not approved for mainstream use and is only tested on patients with diseases that have no known cures.Our Genetics team refer patients to providers that offer gene therapy treatments.
Newborn Screening Lecture Series - Newborn Screening 101: It’s Not Just the PKU
The Department of Genetics nurse navigators invite you and your office staff to learn more about the important Louisiana Department of Health program that is aimed to eliminate or reduce mortality, morbidity and disabilities by early detection and treatment of the disorders included in the newborn screening panel. The 30-minute Zoom session will be offered at many dates and time throughout October and November. CME and CEU hours will be issued for attendance and your participation is strongly encouraged. If the dates and times listed do not work with your office schedule, please contact Bonnie at 504.894.8696 or email@example.com to coordinate another time. Click here for more information. Registration is required.
To contact our Genetics office, call 504.896.9254 or fax 504.896.3997.