EXPANDING OUR FOOTPRINT AND SERVICE TO OUR COMMUNITY
As 2019 comes to an end and we are quickly coming upon a new year and a new decade, the volunteer team here at the IMDSA would like to highlight some of the accomplishments from this past year with you. None of this would be possible without the continued support of ALL of our volunteers, parents, self-advocates, researchers and partners who have committed to donating their time to continue our mission of promoting awareness, fostering research and providing support for the mosaic Down syndrome (mDs) Community. We are a small community, but we are making a huge impact!
SUPPORTING OUR COMMUNITY
For many, receiving a diagnosis of mosaic, translocation, or mosaic translocation Down Syndrome comes with many questions. In the past, information and support was rare, given that only approximately 2%-4% of the total Down Syndrome community population falls into this category and given the variability and often delayed diagnosis for individuals in our community. The IMDSA has made significant strides in changing that by providing various efforts to reach out. In 2019 we were able to increase of scope of support to our community with the following efforts:
PARTICIPATING IN RESEARCH
The IMDSA continued to partner with a core team of researchers on studies that will benefit the full spectrum of the Down Syndrome community. We sincerely thank our core group of researchers for all their efforts and their support, specifically Dr. Colleen Jackson-Cook and Dr. Ruth Brown, who volunteer their time to assist on grant proposals, attend conferences with our team, and speak directly to members of our community. We look to develop and expand our relationship with the research community; but none of our success would be possible without our core team of research partners. We would also like to thank all of the self-advocates and parents that volunteered to participate in these research studies as your participation is pivotal to the success of these programs and progress in the field.
Several of the research studies include:
New Cell Line Study - NIH Funded Research Project entitled, “Generation of isogenic trisomy 21 iPSC resource”, led by Colleen Jackson-Cook (Virginia Commonwealth University) and Anita Bhattacharyya (Waisman Center, University of Wisconsin-Madison).
While we have known for many years that people with Down syndrome, or mosaic Down syndrome, have an extra chromosome 21 in at least a portion of their cells, we still have limited knowledge about how this extra chromosome causes the health and learning problems experienced by people with this condition. Animal studies have been helpful in providing insight, but some of the complex traits associated with Down syndrome (or mosaic Down syndrome) cannot be fully reproduced with animal models (usually mice) since there are many differences in how the brain and other organs function between humans and other animals. Studies looking at humans have also been helpful to gain knowledge, but sometimes the information can be difficult to interpret because of the large number of differences in the genetic backgrounds from one person to another. One powerful approach that Drs. Jackson-Cook and Bhattacharyya are using in this new study is to create cell lines from people with mosaicism for trisomy 21.
Since people with mosaicism have both trisomic and disomic (normal) cells that are genetically identical, except or the presence or absence of an additional chromosome 21, they provide an ideal model system for recognizing trisomy 21-specific changes in cells. The types of cell lines that this team is creating are called “pluripotent stem cells”, which means that researchers can add reagents in the lab and convert these cells (originally collected from blood or skin samples) into cells that mimic the functions of any organ (including brain, heart, etc). Prior to this project, there was only 1 pluripotent stem cell line available to researchers that was derived from a person with mosaicism. This team plans to create 6 new cell lines and will make these cell lines readily available to scientists to help advance research related to Down syndrome and mosaic Down syndrome.
Dr. Jackson-Cook and Bhattacharyya presented this project at the T21 Research meeting that was held in Barcelona in June of 2019 and have received several requests from investigators who are excited to use this valuable resource to move the research field forward. These researchers are continuing with the recruitment of participants for this study, with people who have approximately 50% of their cells with trisomy 21 being especially helpful for this project.
Cryptic Mosaic Down Syndrome Study “Cryptic” is a term that is not often used and is defined as something that is “obscure” or “camouflaged”. The leadership of the IMDSA receives many questions from individuals, worldwide, regarding the possibility that an individual might have mosaic Down syndrome that has gone undetected (or camouflaged). Typically, these inquiries are received from a parent(s) having a child with developmental delay and other health problems. Many of these parents have experienced an “odyssey” that has involved visiting numerous health care providers to try to understand the cause of their child’s conditions, but have been unsuccessful in gaining a diagnosis. As a result of this uncertainty, the parents are frustrated and fearful that their child may not be receiving optimal health care and/or behavioral/educational interventions.
Through the generosity of donors contributing funds to the IMDSA, our group has been able to initiate the Cryptic Mosaic Down Syndrome Study. Queries similar to the one described above are reviewed by an IMDSA volunteer (Megan Shoup) and Dr. Colleen Jackson-Cook to determine if the individual is a good candidate for this study (review of the child’s physical findings, medical history, and previous test results). To date, 6 families have participated in this study, with the costs of the testing being covered by the IMDSA (through donations). These evaluations have resulted in the identification of one child who has low level mosaicism for trisomy 21; one child who has a different chromosomal condition (but now the parents have answers for why their child has health and developmental concerns); 3 children who did not have mosaicism (but now know that this is not the cause of their child’s problems); and one child who meets the study eligibility criteria, but has not yet provided a specimen for testing.
Through this program, IMDSA personnel have also been able to route individuals to appropriate health care services to enable them to gain knowledge that could help with the management of their child. This study is just one example of how IMDSA (through the generosity of donors) is helping to make a difference in people’s lives
LEAF Study – Dr. Ruth Brown’s study (Life Experience and Feelings study) is now fully funded by the National Institute of Health (NIH). She currently has 37 participants. The goal of this study is to get at least 75 participants with mosaicism for Down syndrome by June 2020. To make sure that goal is reached, Dr. Ruth Brown is traveling across the country to meet with families. She has several dates and locations already planned. For more information, please click link to learn more. https://www.imdsa.org/sys/website/?pageId=1851856
Other Research Activities - In September, Dr. Colleen Jackson-Cook represented the IMDSA at a 2-day NIH-sponsored workshop entitled, “Planning a Virtual Down Syndrome Cohort Across the Lifespan”. This workshop, which was led by Melissa Parisi of the NIH, provided the starting point for enhancing research on Down syndrome. In a follow-up to this meeting, Dr. Jackson-Cook is now representing the IMDSA as a member of several international scientific committees that have been created to address existing needs in the field, including (but not limited to):
The personnel of the IMDSA and their scientific advisors have also been active in identifying collaborations with new research teams, including a group at the Massachusetts Institute of Technology (MIT) that includes Hiruy Meharena. They have also continued their collaborations with Stephanie Sherman’s excellent research team at Emory University, and the research team at the Linda Crnic Institute for Down Syndrome, who are leading the Human Trisome Project (the Executive director of the Linda Crnic Intstitute is Dr. Joaquín M. Espinosa).
The IMDSA also deeply values our collaborations and the sponsorships that have been provided by the Global Down Syndrome Foundation, LuMind IDSC Foundation, specs4us, and Mass Mutual.