Graphic background shows icons depicting notebooks, DNA and liquid in beakers with the words #ScienceSaturday Takeover

#ScienceSaturday posts share exciting scientific developments and educational resources with the KAND community. Each week, Dr. Dominique Lessard and Dr. Dylan Verden of KIF1A.ORG summarize newly published KIF1A-related research. From February 5 – April 16, 2022, a team of talented students from Columbia University’s M.A. in Biotechnology program is taking over the Rare Roundup section of the #ScienceSaturday blog! What topics do you want to learn more about? Send suggestions to our team at impact@kif1a.org.

KIF1A-Related Research

Neurogenetic disorders across the lifespan: from aberrant development to degeneration

When discussing disorders of the nervous system, we often see disorders classified as either: 1) neurodevelopmental disorders, defined as a group of disorders that affect the development of the nervous system, leading to abnormal brain function or 2) neurodegenerative disorders, defined as a group of disorders that result from progressive damage to the nervous system over time. However, as we learn more about certain neurogenetic disorders (caused by or linked to a known gene/genes) it is becoming clearer that certain nervous system disorders fall into both the neurodevelopmental and neurodegenerative classifications.

“CNS diseases are frequently classified into early-onset neurodevelopmental disorders and late-onset neurodegenerative disorders. Part of the reason for this dogmatic separation is that the neurodevelopmental phase of disease is treated by pediatricians whereas the later neurodegenerative phase is managed by adult physicians. However, we now recognize that both developmental and neurodegenerative disorders can involve shared cellular and molecular processes and that the pathogenesis of some classic neurodegenerative diseases is associated with developmental aberrations.”

The perspectives-style paper we are sharing today, co-authored by KIF1A Research Network member and clinical champion Dr. Wendy Chung, highlights several neurogenetic disorders that have developmental and degenerative overlap in the context of intellectual disability and autism spectrum disorder. In fact, one of the disorders summarized is KIF1A Associated Neurological Disorder! This paper goes on to discuss many considerations around this topic such as shared mechanisms of disease, the need to study neurogenetic disorders across a patient’s full lifespan, the importance of a natural history study, and the relevance of familial genetic testing.

KIF1A In the News

Jeremy Levin, Chairman & CEO of Ovid Therapeutics, recently discussed the power of the KIF1A.ORG community in an interview with PharmaVoice! This is just one clear example of how the KIF1A family community and our supporters are accelerating the path to treatments by participating in and funding critical research. Check out the full article below.

“At Ovid, for example, we are fortunate to collaborate with KIF1a.org and the Chung Lab at Columbia University. Collectively, they have identified different genetic causes of the disease, secured cell lines, and advanced a natural history study with approximately 300 children. These efforts were critical to informing our development program and will strengthen it.”   

Jeremy Levin, D.Phil, MB BChir, Chairman & CEO of Ovid Therapeutics

Meet Our Guest Bloggers!

Welcome to the first edition of our #ScienceSaturday Takeover from February 5 – April 16! Thank you to Aaron, Pragya, Keyue, Rakshitha, and Hazel for sharing your time and expertise to help KIF1A families learn about scientific concepts and developments that affect our lives.

Aaron Guha

My name is Aaron. I am currently in the MA Biotechnology program at Columbia, and taking the Seminar in Biotech course, which is giving me this opportunity to contribute to KIF1A! I am Dutch, and before moving to New York this fall, I was living in London where I was doing my undergraduate in Biotechnology. At the moment, my hobbies include taking walks around New York, and playing football.

Pragya Gupta

I am a current student in the MA in Biotechnology program at Columbia University. I’m a pharmacist and currently working with Dr. Carrie Shawber’s team in analyzing the market opportunities of drugs for rare lymphatic abnormalities. I am also engaged in developing a minimally-invasive blood test device for pregnant women in rural India with a group of biomedical engineers. As a strong proponent of rare disease research, I hope to engage in meaningful scientific conversations to help KIF1A affected families.

Keyue Ni

I’m Keyue Ni, a student of Columbia University and a cat lover. I graduated from Zhejiang University in China, majoring in biotechnology, now studying for a master’s degree at Columbia University. With a background in molecular biology, I’m glad I could have the chance to contribute to the KIF1A community this spring! I wish my work can help!

Rakshitha Ramkumar

I graduated with a B.tech in Industrial Biotechnology from India and am currently pursuing a Master’s in Biotechnology from Columbia University. I am passionate about Biological Sciences – including developmental biology, human diseases, and learning about their mechanisms and therapeutic strategies. I also have some prior experience working with cervical cancer cells and immunological disorders that are generally misdiagnosed. As an aspiring scientist, I find it incredibly inspiring to advocate for raising awareness for rare and commonly misdiagnosed diseases and hope to contribute to KIF1A.ORG in their thoughtful and impactful initiative – Science Saturday!

Jiahui Hazel Zhao

My name is Hazel, and I’m currently a master student studying Biotechnology at Columbia University. I was born in Beijing, China and went to Sichuan University for undergrad, where I studied Biological Sciences and gradually developed an interest in scientific research. My life goal is to pursue knowledge persistently and contribute as much as I can to those in need of help.

Rare Roundup

Scientists grow ‘minibrains’ in the lab to understand TSC, a genetic disorder like KAND

Tuberous sclerosis complex (TSC) is a neurodevelopmental genetic disorder characterized by neurological symptoms including epilepsy, autism, and intellectual disabilities. The work from this paper cultured iPSCs (stem cells reverted from your mature cells) from TSC patients in a specific way that induced them to form 3D brain-like tissues (called an organoid) in a dish. These minibrains reproduced the characteristic brain lesions in TSC patients, which were not fully displayed by mouse models. Through lineage tracing, they were happy to find the origin of these lesions was a single type of progenitor cells (descendants of stem cells). These cells relied on a protein called EGFR for growth. EGFR inhibitors can block EGFR and reduce the amount of lesions, providing a direction to develop therapeutics for the disease. This is an example of the strengths and weaknesses of different model systems of disease. While mouse models are a valuable tool to study diseases in a whole living system, in this case, organoids were a better model of the effects of TSC on the human brain. Want to learn more about “minibrains”? Check out the video below.

Rare diseases: The socio-economic burden

Upon addressing the prevalence of rare diseases in the U.S., this informative article further describes how these conditions pose an economic burden on the country. It conveniently summarizes various studies performed over time to produce the most relevant conclusions regarding the data available and what improvements could be made. Furthermore, factors that contribute to this burden are accurately emphasized. It showcases that there are multiple instances when a rare disease patient is charged an exorbitant amount when compared to all other conditions. A holistic view is provided on how these costs are classified as medical costs, costs due to delayed diagnosis, and most importantly—non-medical or indirect costs, which surprisingly contribute to 55% of the overall economic burden. These costs include lost earnings of caregivers leaving the workforce, home modifications and expenses for transportation.

Profitable recommendations are also listed to mitigate the financial toll that these diseases impose. These include, but are not limited to, enhanced patient data collection, patient access to diagnostic tools and electronic health records to facilitate research. Rare disease families don’t need publications like this to know the financial burden of rare life, but they do provide important evidence that policymakers and other stakeholders should consider when making decisions about public health.

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