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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

child holding onto bars as she walks with head stabilizing gear
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.
To contact our Genetics office, call 504.896.9254 or fax 504.896.3997.

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