Parkinson disease (PD) is one of the most common movement disorders (a general term used to describe problems with smoothness and ease of voluntary movement) and ranks only behind Alzheimer’s in frequency of neurological disorders.
Affecting about 1-2% of the population aged above 60years, this disease cause loss of proper function of the area of the brain controlling smoothness and ease of movement. The average age of diagnosis is 61 years old though early onset of PD (development of symptoms before age 40) does occur and account for ~5-10% of cases. The first symptoms often include a trembling hand, and slowness or stiffness in movement. Later symptoms include problems with balance. Parkinson disease is progressive. Medications can improve the symptoms, but there is currently no cure for Parkinson disease.
Genetics of Parkinson disease
The exact cause of Parkinson disease is unknown. Scientists believe that both environmental and inherited (genetic) factors are involved. Genes can cause disease in two different basic ways. The first is where a change in the DNA of a gene is so severe that it stops the normal function of the gene from occurring or creates a new function that is very damaging to the cell. This mutation is serious enough to cause a disease independently. However, most common diseases that affect humans are due to a combination of factors, in which genes maybe the largest part. Certain combinations of genetic variations, perhaps with environmental exposures make people more predisposed or susceptible to a disease.
Researchers at the John P. Hussman Institute for Human Genomics (HIHG) have been dedicated to the discovery and in-depth study of genetic causes of Parkinson disease for close to two decades (see Miami Udall Center). Identification of these genetic risk factors can lead to earlier diagnosis and development of novel therapies and interventions.
Parkinson disease and diversity
PD affects individuals of all races and ethnicities; with slightly higher rates in Hispanic/Latino populations and similar rates in African American populations than in non-Hispanic whites. We know that there are genetic differences across ethnic and racial groups with different genes contributing to risk for PD. However, most genetic studies to date have been in non-Hispanic white populations with PD.
In order to narrow the health disparity between populations groups, the HIHG focuses their research on all populations with particular emphasis on diverse groups such as those in the Hispanic/Latino and African American populations because they are underrepresented in PD genetic research. By including Hispanic/Latino and African descent populations we can ensure that the findings of genetic studies on PD and the subsequent development of treatments extend to all human populations. The participation of diverse populations in research efforts is critical to the success of precision medicine, as genetic variation and risk/protective effects in one population may not be present in other populations. Ethnic specific genetic factors and the effects of these genetic differences vary between populations.
Did you know?
- Approximately 1 million people in the U.S. have Parkinson disease and approximately 60,000 new Americans are diagnosed with PD each year.
- The same genetic factors do not necessarily carry the same level of risk in different populations.
- For precision/personalized medicine to work, we must involve all types of people in genomics research
The HIHG is dedicated to addressing health disparities in genomic research. The HIHG team led by Drs. Nuytemans and Vance are committed to extend the PD research to diverse populations to identify novel variants and understand genetic contributions to PD across populations. Identifying these risk factor can lead to earlier diagnosis and better treatments.
For more information, or to participate in our Parkinson disease Study in diverse populations, please contact:
Anisley Martinez, M.D.
Clinical Research Coordinator
Parkinson disease Research Studies
Phone: 305-243-2596
Email: PD-HIHG@miami.edu