An interview with Melinda Barkhuizen Ph.D. in Neuroscience Pharmacy on October 29, 2023 by George Ackerman, Ph.D, J.D.
Biography
I am a pharmacist with a PhD in neuroscience and a PMP-certified project manager. I love solving biological puzzles with data and I am currently working as a computational biologist, where I get to play with large patient cohorts to find new biomarkers of disease. I also have broad preclinical wet lab expertise with 5 years of post-PhD research experience in academic, Fortune 500 industry, and CRO environments.
I bring expertise in interpreting multi-omics and clinical data in a disease context, biological mechanism discovery with causal knowledge graphs, R programming, data visualization, in vitro iPSC-based cellular assay development, translational in vivo models and human cohorts for drug development and biomarker identification in neurological and kidney disease.
I enjoy bringing people together and completing projects and I have a track record of establishing successful multi-national interdisciplinary collaborations between researchers, clinicians, and patient organizations in South Africa, the UK, and the Netherlands.
Personally, I love seeing the world and experiencing new cultures and trying out new foods. When I am not doing science, I am planning my next adventure or perfecting a pastry recipe. My favorite places in the world are the Swiss Alps, Dutch tulip fields, the Northern lights in Iceland and the beaches on the South African East coast.
Please tell me a little about your background.
I am currently working in the pharmaceutical industry to find blood biomarkers for other diseases. Biomarkers enable blood tests to detect disease in the early stages, before the symptoms appear, and to confirm a diagnosis. Currently, therapies for Parkinson`s disease manage the symptoms and don`t slow the disease progression, but there are several disease-modifying therapies in clinical trials. Once one of these therapies works and reaches the market, it will be important to identify the patients who can benefit as early as possible. By the time the classic symptoms of Parkinson’s appear, 60-80% of the affected dopaminergic neurons are already dead.
What is your passion and how did you get involved in Parkinson’s awareness and hope for a cure?
I am passionate about finding cures for neurodegenerative diseases and about using big data to better understand the factors driving disease. My father had Parkinson`s disease and he inspired me to become a scientist.
What type of goals do individuals with Parkinson’s have when working with you?
For my PhD research, I screened Parkinson’s disease patients in the South African population for mutations in the glucocerebrosidase (GBA) gene. GBA mutations are the most common risk factor for Parkinson`s disease globally, but only around 9% of carriers will develop Parkinson`s during their lifetime. GBA mutations impair the cell`s ability to clear waste, which accelerates aggregation of alpha-synuclein and puts stress on the cell. Medications that improve the function of glucocerebrosidase are also in clinical trials for Parkinson`s disease.
What effect can it have on an individual with Parkinson’s?
Parkinson`s disease is a complex disease with both genetic and environmental factors that lead to the neuron death that causes the disease. The field of Parkinson’s disease genetics is relatively young, but new genetic discoveries have a large impact on future treatments. The first gene for Parkinson’s, alpha-synuclein, was discovered in 1997 in a large family where members over several generations developed Parkinson`s. Mutations in the alpha-synuclein gene are a relatively rare cause of Parkinson’s disease, but abnormal alpha-synuclein is found in the brains of most people with Parkinson`s disease. There are now several antibodies against alpha-synuclein in clinical trials. Alpha-synuclein also has the potential as a biomarker for a blood test to tell if someone is going to develop Parkinson’s.
For my PhD research, I screened Parkinson’s disease patients in the South African population for mutations in the glucocerebrosidase (GBA) gene. GBA mutations are the most common risk factor for Parkinson`s disease globally, but only around 9% of carriers will develop Parkinson`s during their lifetime. GBA mutations impair the cell`s ability to clear waste, which accelerates aggregation of alpha-synuclein and puts stress on the cell. Medications that improve the function of glucocerebrosidase are also in clinical trials for Parkinson`s disease.
I am currently working in the pharmaceutical industry to find blood biomarkers for other diseases. Biomarkers enable blood tests to detect disease in the early stages, before the symptoms appear, and to confirm a diagnosis. Currently, therapies for Parkinson`s disease manage the symptoms and don`t slow the disease progression, but there are several disease-modifying therapies in clinical trials. Once one of these therapies works and reaches the market, it will be important to identify the patients who can benefit as early as possible. By the time the classic symptoms of Parkinson’s appear, 60-80% of the affected dopaminergic neurons are already dead.
What would you like to see as a future goal for your programs?
I would like to get people involved in Parkinson`s research. The discoveries of new genes and biomarkers require data from thousands to tens of thousands of individuals with Parkinson`s and healthy donors. For people living in the US, the Michael J Fox Foundation has a study called the Parkinson`s Progressive Markers Initiative for early biomarker discovery. Outside of the US, the research of local universities relies on volunteers. My genetic research was only possible thanks to the brave people with and without Parkinson`s disease who agreed to give their blood samples to science.
What events do you participate in?
I participate in scientific conferences.
How does this also assist the caregivers?
I would like caregivers to keep hope. Whilst there is not a cure for Parkinson`s disease yet, Parkinson`s research has had tremendous breakthroughs since the 1990s and I am optimistic that a cure will be found in my lifetime. In the meanwhile, several studies have shown that exercise is beneficial in slowing the progression of symptoms. Try to keep your loved one active as much as possible.
How can someone get in touch? What is your website?
https://www.linkedin.com/in/melinda-barkhuizen/
Why should people who don’t have Parkinson’s care about this?
You can help Parkinson`s disease research, without having Parkinson`s disease. Healthy controls are a crucial part of Parkinson’s research. Chances are high that you will know someone with Parkinson`s disease at some point during your life because it affects around 1% of the population over the age of 60 and the number of people with Parkinson`s disease is expected to increase as the aging population grows.
If you had one song that would tell us more about you or represent your life, which song would it be?
Skillet – Lions
If you had one final statement or quote you could leave for the Parkinson’s community, what would it be?
There has been tremendous progress in Parkinson`s disease research over the last few years. Scientists understand the disease much better and there are a lot of exciting therapies in clinical trials for Parkinson`s. I am optimistic that there will be a cure for Parkinson`s disease in my lifetime. The era of big data and genomics research is opening our understanding of diseases. People with Parkinson`s and healthy volunteers can help us to better understand what causes Parkinson`s by participating in studies like the Michael J Fox Parkinson`s progressive markers initiative study https://www.michaeljfox.org/ppmi