John P. Hussman Institute for Human Genomics (HIHG)
The research study “Genetics of Frontotemporal Degeneration in Diverse Populations” at the John P. Hussman Institute for Human Genomics (HIHG) focuses on how genetic variation plays a role in FTD in all populations reflecting the breadth of genetic ancestry in the U.S. Currently, FTD is often overlooked in genetic research due to the interest in the more common Alzheimer’s Disease. The FTD study in Miami would like to change that narrative.
This study is led by Dr. Nuytemans and Dr. Pericak-Vance (please find more information on the research team at Our FTD team) and is funded by a Department of Defense research award.
Information on genetic factors contributing to disease can help in diagnosis, prognosis and eventually development of treatments. The vast majority of genetic research in FTD has been conducted in relatively homogenous ancestry cohorts. While these studies have been critical to advancing our understanding of the disease, they leave a substantial gap in knowledge regarding FTD’s genetic architecture on other ancestries. As for Alzheimer disease, genes driving the disease risk for FTD may differ between different genetic ancestries. The identification of these differences not only allow us to ensure that discoveries in FTD genetics are broadly applicable in a clinical care setting for all individuals affected by FTD, but it also helps researchers to better understand FTD development overall leading to better universal treatments.
We welcome any participation of individuals of all backgrounds from the wider South Florida population who have a diagnosis of either behavioral FTD or language variant FTD/primary progressive aphasia.
What do we do in this study?
We obtain clinical information and DNA as well as cells extracted from blood from the study participants. The clinical information helps us confirm the diagnosis and evaluate whether there are subtle differences in symptoms between different patient groups (male-female, bilingual-monolingual, etc). We use the DNA to identify genetic factors contributing to disease; first, we determine whether a variant in a known FTD gene is present; if not, then we will include these samples in our ‘discovery’ analyses with the goal to identify new genes contributing to FTD. These analyses for new genes can include studying families with multiple patients, or comparing large patients and control groups. We anticipate that as a whole the diverse patient cohort will have variants in both known but also new genes. The cells will be helpful in studying the effect of any new variants or genes potentially playing a role in FTD. It is the identification of these new variants/genes that are of importance to the diverse populations; as they might lead to new ideas on how we can treat FTD overall or in those populations specifically.
Practical study information
We are looking to enroll all individuals of the wider South Florida population who have a diagnosis of either behavioral FTD or language variant FTD/primary progressive aphasia. A special interest goes out to those patients with other family members with any dementia diagnosis.
No cost to participate and no travel is required.
Participation includes interviews on family and medical history, and clinical assessments, which can be done remotely.
Participation includes a one-time blood draw, which can be completed at the participant’s home.
$25 gift card at completion of enrollment (blood draw + interviews)
Contact Us
For more information, or to participate in our Frontotemporal Dementia Study, please contact us at:
