Objective: BLAAC PD is a multi-center study recruiting Black and African American individuals with Parkinson’s Disease (PD) and healthy controls. The ultimate goal is to create a foundational cohort to assess diverse aspects of PD in this historically excluded population and serve as a model for diversity and equity in research.

Background: Understanding genetic mechanisms across diverse populations can provide unique insights into complex traits like PD. Our current insights of the genetics underlying PD etiology has been disproportionately based on European ancestry populations. This has led to a significant gap in our knowledge about the disease’s genetics and clinical characteristics in underrepresented populations, particularly individuals of African and African admixed ancestries.

Method: BLAAC PD collects samples from six sites across the United States. Following DNA extraction, samples are genotyped and imputed, followed by ancestry assessment through a pre-trained machine learning model based on reference sample series. Then, samples undergo whole-genome sequencing. A comprehensive assessment was conducted to investigate known and novel genetic contributors.

Results: As of March 6, 2024, BLAAC PD has enrolled 519 participants, of which 37.6% are cases (n=195) and 62.4% are female (n=324) [Table 2]. Available BLAAC PD data contributed to the discovery of a novel GBA1 variant observed in participants of African and African admixed ancestries. Our analyses showed consistent differences in variant frequencies, magnitude of effects and risk alleles for disease-causing mutations in PD known genes. We also assessed structural variants in early-onset and familial PD cases.

Conclusion: These findings highlight the need for diverse representation in genetic research. Insufficiently diverse genetic data may exacerbate health disparities once translated to the clinic. BLAAC PD will help resolve the cross-ancestry applicability of drug targets, treatments and preventative measures by elucidating the genetic architecture of disease in African and African admixed ancestries.  BLAAC PD aims to provide a platform for discovery and replication studies to explore the relevance of genetic findings reported in other populations and investigate genotype-phenotype correlations. Looking ahead, BLAAC PD plans to continue recruiting and genotyping participants to serve as a foundational cohort for diverse genetic studies.

« Back to 2024 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/the-black-and-african-american-connections-to-parkinsons-disease-study/