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 Genetic Counselors
The Children’s Hospital Genetics Department team includes several
licensed and board-certified genetic counselors who play a vital role
in the care of our patients. Genetics counselors are healthcare professionals who have specialized education and training in medical genetics.
Our team of genetic counselors helps educate patients and their families
about genetic diseases and available testing options. The team will evaluate
a patient’s risk of inherited conditions and help advise families
about a child’s genetic condition and what medical treatments and
services may be needed. In addition, the team offers supports for our
patients and families as they are adjusting to a diagnosis of a genetic disease.
Our Genetics team refer patients to providers that offer gene therapy treatments.
To contact our Genetics office, call
504.896.9254 or fax 504.896.3997.
professionals who have specialized education and training in medical genetics.
Our team of genetic counselors helps educate patients and their families
about genetic diseases and available testing options. The team will evaluate
a patient’s risk of inherited conditions and help advise families
about a child’s genetic condition and what medical treatments and
services may be needed. In addition, the team offers supports for our
patients and families as they are adjusting to a diagnosis of a genetic disease.
