Research

Research is key in unlocking the unique and complex door to arthrogryposis multiplex congenita. AMCSI has created a research fund to help with financial assistance to our medical community with a special interest in researching arthrogryposis multiplex congenita.

Also, to learn more about adults with arthrogryposis connecting to a community of hope where they can be a part of innovative research that informs how we live and age, please visit:: amcresearch.org

Epigenetic signature of monozygotic twinning: a tool to study the vanishing twin syndrome and its connection to Amyoplasia

Background

Amyoplasia is a non-genetic form of Arthrogryposis
10-fold increase of Amyoplasia in individuals that are part of an identical (monozygotic) twin pair
Identical twins carry a unique and stable epigenetic signature

Hypothesis
Imbalanced blood flow (twin-twin transfusion) during the development of identical twins may contribute to Amyoplasia in one twin, while singletons with Amyoplasia may have experienced a vanishing twin.

Study Design
Generate epigenetic data from 30 cheek swab samples collected from Amyoplasia. (singletons, twins, and triplets) and vanishing twin cases

Anticipated Results
If identical twinning is the cause of Amyoplasia, individuals born alone should have an epigenetic signature more similar to identical twins than to controls

Interested in participating?

The study now available for enrollment via this link:
redcap.avera.org

Study Investigators

Dr. Jeffrey Beck

Dr. Judith Hall

Sponsored By

The Move to Learn team at the University of Delaware (UD) has a new study aimed to help researchers understand people’s dressing needs when they have difficulty using both of their arms and hands.

Why are we doing this study?
Dressing is an important task we all do multiple times each day. We know that this task can be very hard to complete independently for people who have difficulty moving their hands or arms. We want to create resource lists that share solutions people have found to dressing challenges. We also want to learn more about how researchers can create new solutions, such as new types of laces or zippers, to help people dress on their own.

Who can participate and what is involved?
People 18 years or older can participate if they: 1) have trouble using both arms and hands and need help or a lot of time to open and/or close fasteners like buttons, zippers, snaps, or laces when dressing, 2) can communicate in English, 3) have good thinking and speaking skills, 4) and are available to come to STAR Campus at UD for one, approximately 2-hour visit. Participants in this study will be asked questions about their challenges with dressing and solutions they have found. They will also have their arm and hand strength, flexibility, and function tested.

How can I get more information about the project?
If you would like more information about the project, please contact Jennifer Marmon, jmarmon@udel.edu, or 302-831-4615. If you have any questions