Welcome to the Genetic Disorders Studies Page

VISITS: 1 visit or phone call

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.

DURATION: 45 minutes

LOCATION: By phone

MyPaTH Story Booth: Amplifying African American Voices and Healthcare Experiences

In follow-up of Black History Month, the Story Booth team is putting a special focus on stories from African American storytellers over the next 90 days. We would like to invite patients, caregivers, and health care providers to share their experiences regarding accessing health care. Your voices can empower change to research, patient-centered care, and most importantly, your community.

DURATION: 45 minutes

VISITS: 1 phone call

LOCATION: Children's Hospital of Pittsburgh of UPMC

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.

Arrhythmia

Atherosclerosis

Heart and Circulation

Heart Failure

And 4 more areas

AGE: 18-60

COMPENSATION: $75.00

Disability Navigators

Do you identify as someone with a developmental disability? You may be eligible for a research study is to figure out whether having a patient navigator to talk to and help get accommodations can help patients with developmental disabilities. The study would run for five months. You’d be asked to fill out three short surveys during that time. Compensation is provided.

Other Brain and Nervous System

Other Genetic Disorders

AGE: 18 and older

DURATION: 5 months

VISITS: 3 surveys

LOCATION: Online, by phone and (if you choose) with you at appointments

COMPENSATION: Up to $245

ACE Trial

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.

Anemia

Blood/Lymphatic System

DURATION: 2 years

VISITS: 7 visits

LOCATION: Bellefield Professional Building, UPMC Montefiore Hospital & UPMC Presbyterian Hospital - Oakland

COMPENSATION: Up to $500

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.

Featured Research

Precision Medicine

Sickle Cell Anemia

AGE: 18 and older

DURATION: 2-3 hours

VISITS: 1 in-person visit

LOCATION: UPMC Benign Hematology Clinic (Falk Building)

COMPENSATION: $25 per hour

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.

AGE: 18 and older

DURATION: 2-3 hours

VISITS: 1 in-person study visit

LOCATION: UPMC Benign Hematology Clinic (Falk Building)

COMPENSATION: $25 per hour

REGISTRY

VISITS: None Required

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.

LOCATION: By email or phone

Idiopathic Pulmonary Fibrosis

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.

Asthma

COPD/Emphysema

Cystic Fibrosis

And 3 more areas

AGE: 18 and over

DURATION: Lifetime

VISITS: 1 visit

LOCATION: Oakland

COMPENSATION: $30

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.

Diabetes

Healthy Volunteer

Other Genetic Disorders

AGE: 18 - 45

VISITS: At least 1 visit

LOCATION: A lab near you

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.

VISITS: Up to 4 visits over the course of the study

Family Health

Healthy Volunteer

AGE: 25 and up

DURATION: 5-6 years

LOCATION: UPMC Western Psychiatric Hospital, UPMC Western Behavioral Health, & UPMC Presbyterian Hospital – Oakland

COMPENSATION: Up to $1200

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.

Alzheimer's Disease

VISITS: Up to 4 visits over the course of the study

Family Health

AGE: 25 and up

DURATION: 5-6 years

LOCATION: UPMC Western Psychiatric Hospital, UPMC Western Behavioral Health, & UPMC Presbyterian Hospital – Oakland

COMPENSATION: Up to $1400

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.

DURATION: At least 5 years

Featured Research

Parkinson's Disease

AGE: 30 and up

LOCATION: Kaufmann Building – Oakland & Online

COMPENSATION: $100 - Screening visit; $200 - Baseline visit; $200 per annual visit

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.

SEX ASSIGNED AT BIRTH: Female

DURATION: 2 Days

LOCATION: Oakland

LOCATION: UPMC Presbyterian

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.

DURATION: 9 months

VISITS: 35 visits

COMPENSATION: $1750

Enroll-HD

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).

Huntington Disease

Other Brain and Nervous System

AGE: 18 and up

VISITS: Once per year

LOCATION: Kaufmann Medical Building Oakland

COMPENSATION: Travel Reimbursement

DURATION: About 1 hour

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.

Alzheimer's Disease

Healthy Aging

Other Genetic Disorders

Remote Research

AGE: 50 - 70

VISITS: No in-person visits

LOCATION: By phone