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Preliminary results from the PD GENEration study demonstrate that comprehensive genetic testing and counseling, and the identification of rare genetic mutations linked to Parkinsons disease, is feasible for the Parkinsons community at large.

Launched in 2019through theParkinsons Foundation and supported partly by Biogen, the study offers free genetic testing to Parkinsons patients, as well as free genetic counseling to help them understand their results.

Although an estimated 15% of Parkinsons cases might stem from genetic mutations, testing for clinically relevant genes remains uncommon.

Since launch, the PD GENEration study has tested at least 291 people, 52 of whom tested positive for a Parkinsons-related mutation. This translates to a 17% detection rate, which is slightly higher than that estimated in the scientific literature.

According to a press release from the Parkinsons Foundation, PD GENEration researchers expect the detection rate to rise as more people with Parkinsons get tested.

These interim findings represent the cornerstone in our success to lay the foundation for precision medicine in Parkinsons disease, said James Beck, chief scientific officer of the Parkinsons Foundation, in the same press release. By better understanding the genetic implications for people with [Parkinsons], scientists will be able to move research and treatments forward towards a cure.

The exact causes of Parkinsons remain unknown. Although scientists believe that both genetic and environmental factors contribute to the condition, the extent to which each does so remains unclear. Expanding genetic testing may prove an effective way to shed light on that topic.

PD GENEration tests for seven genes with known Parkinsons associations: GBA(glucocerebrosidase beta),LRRK2(dardarin),PRKN(Parkin),PINK1(PTEN induced putative kinase 1),PARK7(DJ-1),VPS-35,andSNCA(alpha-synuclein).

Testing for mutations in all of these genes is neither always available nor always covered by insurance. At-home kits are both limited in which changes they can detect and they cannot detect new mutations, which is a major goal of PD GENEration.

Some participants tested have shown extremely rare mutations, with some individuals even carrying multiple Parkinsons-associated mutations. This information will contribute to a better understanding of the condition and should help in assessing the impact that certain mutations have on Parkinsons progression and outcomes.

Although a genetic cause is unlikely to be found in most Parkinsons patients, understanding the genetics of the condition better will improve the knowledge of its underlying biology, which will contribute to finding new therapeutic targets that could benefit many more people living with Parkinsons.

This study is critical for the entire [Parkinsons] community, said John L. Lehr, President and CEO of the Parkinsons Foundation. PD GENEration participants can now arm themselves with more information about their specific diagnosis while helping scientists advance [Parkinsons] research. We will continue to expand the PD GENEration study to better serve the [Parkinsons] community while moving research forward.

The PD GENEration study is currently in a pilot phase. The Parkinsons Foundation plans to expand testing sites to enroll up to 15,000 participants by late this year.

The pilot program experienced delays related to the COVID-19 pandemic, which caused a temporary suspension in testing. Although this means the program has fallen shy of its 600 anticipated participants so far, the foundation now is preparing a telemedicine-based approach, in which participants may use at-home genetic testing kits.

Virtual genetic counseling will be made available in English and Spanish. More information about where to find sites that are actively enrolling is available here.

Forest Ray received his PhD in systems biology from Columbia University, where he developed tools to match drug side effects to other diseases. He has since worked as a journalist and science writer, covering topics from rare diseases to the intersection between environmental science and social justice. He currently lives in Long Beach, California.

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Ana holds a PhD in Immunology from the University of Lisbon and worked as a postdoctoral researcher at Instituto de Medicina Molecular (iMM) in Lisbon, Portugal. She graduated with a BSc in Genetics from the University of Newcastle and received a Masters in Biomolecular Archaeology from the University of Manchester, England. After leaving the lab to pursue a career in Science Communication, she served as the Director of Science Communication at iMM.

See original here:
Parkinson's Foundation Shares Early Results of PD GENEration Study - Parkinson's News Today

This entry was posted on July 8, 2020 at 1:43 pm and is filed under Genetics. You can follow any responses to this entry through the RSS 2.0 feed. Both comments and pings are currently closed. |