Welcome to the Chromosomal Disorders Studies Page

CURRENT STUDIES THAT MAY INTEREST YOU

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.

ACL Tear

DURATION: 45 minutes

VISITS: 1 visit or phone call

LOCATION: By phone

COMPENSATION: NONE

NO IN-PERSON VISITS

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

COMPENSATION: NONE

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.

Chromosomal Disorders

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: $15 gift card/completed survey

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.

VISITS: one in person visit

LOCATION: Convenient locations throughout Pennsylvania

COMPENSATION: $25.00 gift card

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.

Chromosomal Disorders

Family Health

Healthy Volunteer

AGE: 25 and up

DURATION: 5-6 years

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

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

Chromosomal Disorders

Family Health

AGE: 25 and up

DURATION: 5-6 years

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

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.

Chromosomal Disorders

Featured Research

Parkinson's Disease

AGE: 30 and up

DURATION: At least 5 years

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.

Chromosomal Disorders

SEX ASSIGNED AT BIRTH: Female

DURATION: 2 Days

LOCATION: Oakland

COMPENSATION: NONE

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

LOCATION: UPMC Presbyterian

COMPENSATION: $1750

RELATED RESEARCH AREAS:

Genetic Disorders