Welcome to the Chromosomal Disorders Studies Page

Remote Research

VISITS: 2 surveys; no in-person visits

DURATION: 1 hour

LOCATION: Online

COMPENSATION: $40 gift card

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.

VISITS: one in person visit

LOCATION: Convenient locations near you including Altoona, Monroeville, North Hills, Oakland, Philadelphia, Shadyside, the South Hills and more!

COMPENSATION: $25.00 gift card

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

Adult Functioning Scale Study – Caregivers

Are you the legal guardian of an adult diagnosed with 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 functioning in adults with developmental disorders. Participants will complete assessments. Compensation is provided.

Caregiver Health

AGE: Legal guardian of person age 18 and up

Family Health

Healthy Aging

And 2 more areas

DURATION: 1-2 hours

VISITS: 1

LOCATION: Online

COMPENSATION: $80

Adult Functioning Scale Study

Are you an adult diagnosed with 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 functioning in adults with developmental disorders. Participants will complete assessments. Compensation is provided.

Featured Research

Remote Research

DURATION: 1-2 hours

VISITS: 1

LOCATION: Online

COMPENSATION: $80

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

COMPENSATION: NONE

DURATION: About 45 minutes

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.

VISITS: No in-person visits

LOCATION: By phone

COMPENSATION: NONE

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.

Other Blood/Lymphatic System

Pregnancy and Postpartum Health

SEX ASSIGNED AT BIRTH: Female

DURATION: 8 weeks

VISITS: 5

LOCATION: Hemophilia Center of Western PA & UPMC Magee-Womens Hospital

COMPENSATION: Up to $400

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

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.

Liver Disease

Other Digestive System

Other Genetic Disorders