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.
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.
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.
Vasculopathy and Hemorheology in SCD - Healthy Controls
Are you African American? Are you a healthy person without sickle cell disease or sickle cell trait? You may be eligible for a research study to understand why some patients with sickle cell disease have abnormal blood vessel function. Compensation is provided.
Vasculopathy and Hemorheology in SCD - Sickle Cell Carriers
Are you African American? Have you been diagnosed with sickle cell disease or sickle cell trait? You may be eligible for a research study to understand why some patients with sickle cell disease have abnormal blood vessel function. Compensation is provided.
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.
IMSA 2 Study
This is a research study that is being done to learn more about severe asthma by comparing people with severe asthma to those with milder forms of asthma and people without asthma, over time.
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.
ABC-DS: Siblings of Individuals with Down syndrome
Are you the sibling of an individual age 25 or older who has Down syndrome? You may be able to participate in a study to identify those things that can predict which adults with Down syndrome are most likely to develop Alzheimer’s disease. Siblings with Down syndrome should be willing and able to participate in the study. Study participation will last 5-6 years. Compensation is provided.
ABC-DS: Participants with Down syndrome
Do you have Down syndrome? You may be able to participate in a study to identify those things that can predict which adults with Down syndrome are most likely to develop Alzheimer’s disease. Eligible participants must have a “study partner” who knows them well and is willing to provide information about their medical status and abilities. Compensation is provided.
Are you at least 65 years old? If so, you may be eligible to participate in a research study to determine if taking Equol, a plant-based supplement, could slow the progression of stiffening of the arteries, small blood vessel disease in the brain and memory decline. The ACE Trial is short for: Arterial Stiffness, Cognition and Equol.
All of Us Pennsylvania Research Program
All of Us wants at least one million people to join. Your participation can help shape the future of health for generations to come. People who join will share information. This might be about their health, habits, and what it’s like where they live. It might also be about family history and genes. By looking for patterns, researchers may learn more about what affects people’s health.
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.
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.
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.
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.