About Genetic Disorders
The genes contained within each of the body’s cells are a vast library, containing information and blueprints for the appearance and operations of the body. When a cell divides, its genes duplicate so that each new cell has a complete copy. Occasionally, the new copy will contain an error, referred to as a genetic mutation. While some mutations are harmless, several serious diseases, such as Down syndrome, cystic fibrosis, and Huntington’s disease, are associated with genetic mutations. Additionally, researchers think that the risk for other diseases could be impacted by genetic mutations. Because genes play a role in every cell in the body, research into genetics and genetic disorders could impact almost every area of health and wellness.
Emotion Dysregulation Inventory-Self-Report - Adults with Intellectual or Developmental Disability (IDD)
Are you an adult age 18-65 who is diagnosed with an intellectual or developmental disability (IDD), such as Down syndrome, Williams syndrome, or Fragile X syndrome? You may be able to participate in a research study to help create a questionnaire that measures emotion regulation in teens and adults with IDD. Participants will complete online questionnaires. Compensation is provided.
All of Us Pennsylvania Research Program
You may be able to change the future of medicine. The All of Us PA Research Program is enrolling adults 18 years of age or older. This may be your chance to improve how your children and your children’s children receive medical care.
MyPaTH Story Booth – COVID-19 Stories
Participants are invited to share how they are maintaining their health during the coronavirus pandemic, or to share what it is like being ill with COVID-19 and/or caring for a loved one who is ill with COVID-19. Participation in this research study involves one 45-minute session that takes place over the phone. Eligible participants must be able to read and understand English.
The Parkinson's Progression Markers Initiative (PPMI)
Were you diagnosed with Parkinson’s disease (PD) in the last two years and are not currently taking standard PD medications? You may be able to participate in a research study to help better understand how Parkinson’s disease progresses over time. Study participation involves having physical exams, undergoing brain scans, and providing biological samples. Compensation is provided.
MyPaTH Story Booth 2.0
Interested in sharing your story about health, illness, or research? Patients and caregivers are needed to participate in a research study to help learn more about topics that are important to you and that may improve health and health care. Participation involves one 45-minute session that takes place over the phone. Eligible participants must be able to read and understand English.
Multimodal Connectome Study – Congenital Heart Disease
Are you an adult between ages 18-60 years old who has Congenital Heart Disease? If so, you may be eligible to participate in a study to help researchers determine if differences in how the brain is formed and how it functions can predict behavior variations in different populations. Must be willing and able to undergo MRI scanning. Involves one study visit. Compensation provided.
Smart Speaker and Skill Use: What do We Know?
Do you have a physical, visual or mild cognitive disability? Do you use a smart speaker 3 times a week or more? You may be eligible to participate in a research study to learn about persons with disabilities experiences using smart speaker skills. Compensation provided.
Decentralized Biobanking "de-bi": An app for tracking research donations
Are you 18 and older and interested what happens to the tumor/tissue/blood you donate for research? This research project is developing an app for those who want to track or learn about their biosample donations and studying patient preferences for feedback about research on their biosamples.
Movement Disorders Research Registry
Do you have a movement disorder? If so, you may be able to participate in the Movement Disorders Registry. This registry is a list of individuals who are interested in being contacted about future research studies.
Genomic Approaches to Recurrent Pregnancy Loss Study
Are you a woman between the ages of 18 and 37 who has experienced a pregnancy loss? You may be able to participate in a study that hopes to better understand the genetic basis of recurrent pregnancy loss.
Are you over 18 and been diagnosed with sickle cell? Do you have chronic pain (pain more days than not for the past 3 months or longer)? Are you prescribed long-acting or daily opioid pain medication? You may be eligible to participate in a research study to improve pain and overall health for people living with sickle cell disease.
Volunteer for Asthma - AIR (Asthma Institute Research Registry)
Do you have asthma? You may be able to participate in a registry that aims to accelerate improve the understanding of asthma in Western Pennsylvania. We are asking people with asthma in our community to help us learn more about their own asthma, with the goal of improving to help us try to improve care for all asthmatics.
TrialNET Pathway to Prevention 18-45
Do you have a relative who has been diagnosed with type 1 diabetes? Are you aged 18-45? You may be able to take part in a research study to help better understand the development of type 1 diabetes in adults who have a family member with the disease. People found to be at an increased risk for type 1 diabetes may qualify for additional research studies.
Spinal Cord Stimulation for the treatment of motor deficits in people with Spinal Muscular Atrophy
Are you 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 in consequence of spinal cord injury years after injury.
The VWD-Woman Study
Do you have von Willebrand disease and are pregnant? You may be able to participate in a study to examine the effectiveness of two different approaches to reduce blood loss at delivery. Participation involves 5 visits over 8 weeks. Compensation is provided.
Are you the spouse, caregiver, or family member of someone affected by Huntington’s disease (HD)? If so, you may be able to participate in a research study that is collecting data in an effort to improve understanding and treatment of Huntington’s disease (HD).
Research Attitudes in Alzheimer’s Disease
Are you ages 50-70? Have you taken a commercial genetic test, such as 23andMe®? Have results from that test shown that you have an increased risk of developing Alzheimer's disease? If so, you may be able to participate in a study to help determine your interest in participating in Alzheimer’s disease research studies. This study involves completing a questionnaire over the phone.
Airway Clearance in MDS
Are you a male between the ages of 18-21 who has been diagnosed with Duchenne or Becker muscular dystrophy? If so, you may be able to participate in a research study to see if simple breathing tests can help determine how well you can clear your airways of mucus. Compensation provided.
Biliary Atresia Study
Are you age 18 or older with a diagnosis of biliary atresia? Have you had the Kasai procedure (surgery to improve bile flow)? If so, you 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.