Welcome to the Genetic Disorders Studies Page

About Genetic Disorders

DNA contains the instructions for producing the body’s cells; abnormalities in these instructions cause genetic disorders like Down syndrome, Duchenne muscular dystrophy, and sickle cell anemia. While the symptoms of many genetic disorders emerge only late in life, the DNA that causes them is present from birth. Accordingly, your child may help researchers better understand the progression of genetic disorders and, perhaps, how to halt those processes.

CURRENT STUDIES THAT MAY INTEREST YOU

NO IN-PERSON VISITS

Smart Phone Apps Study II

Do you have a child between the ages of 12-17 with a diagnosis of Spina Bifida, Spinal Cord Injury, or Cerebral Palsy? Does your child reside at home? If so, your child may be eligible to participate in a study to help develop and evaluate an app suite to support and manage self-care. Compensation may be provided.

VISITS: Multiple visits/sessions

LOCATION: Either in the office, your home, or by phone

COMPENSATION: YES

TrialNET Pathway to Prevention - Ages 2½ - 17

Are you the parent of a child aged 2 ½-17 who has a relative with type 1 diabetes? Your child may be able to take part in a research study to learn more about the development of type 1 diabetes in children who have a family member with the disease. Children found to be at an increased risk for type 1 diabetes may qualify for additional research studies aimed at preventing or delaying the disease.

Diabetes

Healthy Child

Other Genetic Disorders

AGE: 2 - 17

VISITS: At least 1 visit

LOCATION: A lab near you

COMPENSATION: NONE

Smartphone Apps for Kids with Chronic Conditions

Do you have a child between the ages of 12-17 with spina bifida, spinal cord injury, traumatic brain injury, or cerebral palsy? If so, your child may be able to take part in a research study to evaluate if smartphone apps can help them manage their self-care routines. Compensation provided.

LOCATION: Multiple clinic locations in East End, or at home

COMPENSATION: YES

Spinal Cord Stimulation for the treatment of motor deficits in people with Spinal Muscular Atrophy – Age 16-17

Are you or your child affected by Spinal Muscular Atrophy? You may be able to participate in a research study using spinal cord stimulation (SCS), an approved clinical therapy for pain syndromes that do not respond to drugs. Unexpectedly, SCS has shown the ability to promote the recovery of leg motor function in people with complete motor paralysis

Assistive Devices

Birth Defects

Bones, Joints and Muscles

Brain and Neurological Disorders

And 18 more areas

AGE: 16-17

DURATION: 9 months

VISITS: 35 visits

COMPENSATION: YES

Biliary Atresia Study

Is your child between 6 months and 17 years old with a diagnosis of biliary atresia? Has your child had the Kasai procedure (surgery to improve bile flow)? If so, your child may be able to participate in a research study to learn more about the long term health of patients who have had the Kasai procedure. Participation by parents is voluntary. Compensation for transportation provided.

Chromosome Problems

Other Digestive System

Other Genetic Disorders

AGE: 0 - 17

DURATION: Varies

LOCATION: UPMC Children’s Hospital of Pittsburgh - Lawrenceville

COMPENSATION: YES

RELATED RESEARCH AREAS:

Duchenne Muscular Dystrophy, Birth Defects, Other Genetic Disorders, Chromosome Problems, Sickle Cell Anemia