Neurodegenerative disorders – Genes to Genomes https://genestogenomes.org A blog from the Genetics Society of America Wed, 27 Mar 2024 21:16:04 +0000 en-US hourly 1 https://wordpress.org/?v=6.6.2 https://genestogenomes.org/wp-content/uploads/2023/06/cropped-G2G_favicon-32x32.png Neurodegenerative disorders – Genes to Genomes https://genestogenomes.org 32 32 Early Career Leadership Spotlight: Hassan Bukhari https://genestogenomes.org/early-career-leadership-spotlight-hassan-bukhari/ Thu, 08 Feb 2024 16:11:31 +0000 https://genestogenomes.org/?p=86575 We’re taking time to get to know the members of the GSA’s Early Career Scientist Committees. Join us to learn more about our early career scientist advocates. Hassan BukhariMultimedia SubcommitteeBrigham and Women’s Hospital/Harvard Medical School Research Interest My research focuses on unraveling the intricate relationship between DNA damage and the progression of aging-associated neurodegenerative disorders, specifically…]]>

We’re taking time to get to know the members of the GSA’s Early Career Scientist Committees. Join us to learn more about our early career scientist advocates.

Hassan Bukhari
Multimedia Subcommittee
Brigham and Women’s Hospital/Harvard Medical School

Research Interest

My research focuses on unraveling the intricate relationship between DNA damage and the progression of aging-associated neurodegenerative disorders, specifically conditions like Alzheimer’s disease. Pathological hallmarks of Alzheimer’s disease are protein aggregates called amyloid plaques and neurofibrillary tangles in the brain cells. The amyloid precursor protein contributes to amyloid plaques, and tau aggregation leads to neurofibrillary tangles. Both the amyloid precursor protein and tau protein contribute to the DNA repair pathway, but the underlying mechanisms remain largely unexplored.

The universal truth is that all organisms encounter DNA damage due to various assaults—environmental toxins, UV radiation, metabolic byproducts like free radicals, and more. Cells have, over time, evolved sophisticated mechanisms to repair DNA damage by relying on cell division and repair pathways. The challenge arises with the neurons that live for decades and are incapable of cell division to repair DNA damage. In Alzheimer’s disease, DNA damage further accumulates because essential neuronal proteins, such as the amyloid precursor and tau proteins, can’t perform their role due to pathogenic mutations or alteration. However, details of these processes remain understudied. 

In the course of my PhD, I have delved into the role of the amyloid precursor protein in DNA repair, revealing the presence of toxic nuclear aggregates that disrupt this repair process in human Alzheimer’s disease. During my postdoctoral endeavors, I have attempted to uncover the role of tau protein—a key contributor to Alzheimer’s second pathological hallmark—in DNA-damage repair. Through innovative CRISPR-Cas9 gene editing techniques, I engineered a novel Drosophila model of Alzheimer’s disease, demonstrating the influence of tau protein on DNA repair.

My future research aspirations are two-fold: to elucidate the shared pathological mechanisms underlying decreased DNA repair in brain cells and to identify novel tools or compounds that can enhance DNA repair, paving the way for potential therapeutics against neurodegenerative disorders which lack effective treatments.

As a PhD-trained scientist, you have many career options. What interests you the most? 

I focus on orchestrating teams of qualified researchers and harnessing state-of-the-art technologies to unravel the complexities of some of science’s most formidable inquiries. These questions not only help expand human scientific knowledge but also have direct, transformational implications on the lives of countless individuals.

My career trajectory aligns with researching the pivotal role of DNA repair in the genesis of Alzheimer’s disease and associated disorders. DNA damage emerges as a potential early harbinger of neurodegeneration, holding the promise of ushering in scientific revelations and economic advancements. The pursuit of therapeutics for neurodegeneration extends beyond merely prolonging human lifespans; it alleviates the financial and emotional burdens shouldered by affected families.

The evolutionary conservation of these pathways further drives my interest in the nexus between DNA repair and disease pathogenesis. For example, during my postdoctoral endeavors, I engineered a novel disease model by introducing a human tau pathogenic mutation through CRISPR knock-in with Drosophila tau. The brain of this novel disease model displays significant anomalies, including DNA damage, substantiating the role of tau in controlling DNA damage and its significance in brain health.

Moving forward, I anticipate unraveling the mechanisms through which alterations in conserved signaling pathways culminate in neurodegeneration within the disease model brain. This aspiration can heavily impact novel therapeutic strategies, initiating transformative breakthroughs for a wide array of disease treatments.

In addition to your research, how do you want to advance the scientific enterprise? 

I aspire to bridge the gap between scientific advancements and the broader public. The rapid strides in scientific understanding, particularly in realms like artificial intelligence, have propelled us into an era of unprecedented progress. We now generate an overwhelming volume of information, a feat previously inconceivable.

In light of this information explosion, a pressing need emerges: to distill and convey complex scientific concepts across multimedia platforms, catering to both scientific and non-scientific audiences. The significance of this endeavor becomes evident with instances like the COVID-19 pandemic, where misunderstandings around mask utility, vaccines, and disease mitigation underscore the critical role of scientific communication through multimedia channels. Similarly, the persistence of climate change denial, pervasive among non-scientific and even some scientific circles, underlies the urgency for effective communication.

My vision involves sharing scientific insights via engaging podcasts, YouTube channels, and social media platforms. This approach empowers the wider public to access and appreciate the latest discoveries. Furthermore, my commitment extends to nurturing the next generation of scientists, equipping them with the knowledge and tools to fuel future breakthroughs and confront emerging challenges.

My role as a co-chair in the Multimedia Subcommittee of the ECLP aligns with my forward-looking objectives. By illuminating topics that impact not only individual lives but also the survival of our species on this planet, we pave the way for collective well-being and prosperity. Through informed awareness, we can collectively forge healthier, more prosperous lives for all.

As a leader within the Genetics Society of America, what do you hope to accomplish? 

Having lived and trained in three countries, I’ve been fortunate to immerse myself in diverse cultural and educational environments. Throughout my bachelor’s studies, I hosted a university radio show and helped fellow students achieve academic excellence and navigate their career paths. My multifaceted background and distinctive viewpoint allow me to view challenges and solutions through various lenses. As a leader within the Genetics Society of America, I’m enthusiastic about spearheading, advancing, and enhancing the ECLP’s Genetics in Your World podcast.

We aim to spotlight pioneering genetics research featured in the GSA Journals. This initiative seeks to broaden awareness of state-of-the-art genetic advancements, catering to scientific and non-scientific communities.

I aspire to foster a culture of inclusivity within my sub-committee. By harnessing our collective strengths and embracing diverse perspectives, we cultivate a learning-rich environment where mutual growth is the norm. I firmly believe that nurturing equal participation among sub-committee members capitalizes on our distinct talents and propels each individual toward their fullest potential.

Previous leadership experience

Co-director, Mentoring Circle Program at Brigham and Women’s Hospital, Harvard Medical School

Mentor, Mentoring Circle Program at Brigham and Women’s Hospital, Harvard Medical School

Province Coordinator, National Academy of Young Scientists, Pakistan

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