#ScienceSaturday posts share relevant and exciting scientific news with the KAND community. This project is a collaboration between KIF1A.ORG’s Research Engagement Team Leader Alejandro Doval, President Kathryn Atchley, Science Communication Associate Aileen Lam and Chief Science Officer Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

Recent KIF1A-Related Research

2021 KAND Family & Scientific Engagement Conference

We’re so close to the 2021 KAND Family & Scientific Engagement Conference, which will take place on Friday, July 9th and Saturday, July 10th. For more information and to register for this event, click on the button below!

Dynamic nanoassemblies for imaging and therapy of neurological disorders

In the past years, there has been an increase in reports of people being affected by neurological disorders (NDs) that range from Alzheimer’s and Parkinson’s disease to rare NDs that we’re continuing to learn more about to this day. To enhance diagnostic capabilities and therapeutic approaches for NDs, the emerging field of nanomedicine is on the rise, as researchers are taking this path to arrive at potential treatments. This area of nanomedicine is composed of imaging and/or therapeutic agents that have been identified to diagnose or treat NDs with great efficacy. Additionally, scientists have determined that dynamic nanoassemblies, which are self-assembling particles that function to interfere with the pathogenic pathways or substances leading to NDs, are at the forefront in diagnosing and treating NDs. 

In this review, the authors highlight the pathogenic mechanisms of different NDs and introduce how nanoparticles, the building blocks of dynamic nanoassemblies, can function to potentially provide efficient diagnoses or therapeutic relief. The authors also discuss the benefits of using this newer technology such as its ability to cross the blood brain barrier, promote neuroregeneration, and accurately provide diagnosis and treatment. Additionally, the authors also speak to the challenges that are encountered such as safety risks and developing accurate delivery systems. Nonetheless, this cutting-edge science shows promise for the future of NDs in both diagnosis and therapeutic aspects. This advancement is incredibly exciting, especially for the rare disease community as many rare diseases like KAND struggle with obtaining a timely diagnosis and finding treatments for the patients affected. Want to learn more about the tremendous potential of dynamic assemblies and nanoparticles? Check out the review linked below!

Rare Disease News

Mini-brains reveal cause of rare syndromes

With many rare disorders not well understood, researchers are on a mission to determine the underlying causes of these diseases in hopes of finding potential treatments and to provide more insight for the patients and families affected. From what scientists and clinicians have gathered, a handful of rare neurological disorders (Juberg-Marsidi, Say-Meyer, Brooks syndrome) that lead to intellectual disability in children are linked to defects in a gene known as HUWE1, which is responsible for encoding an enzyme that tags proteins for disposal. As a result of mutations within this gene, children experience distinctive facial features and difficulty with walking and speaking. 

In efforts to gain a better understanding, Professor Barbara van Loon uncovered a common cause for these different rare syndromes. She collected blood cells from five boys with these rare syndromes to recreate the development of these diseases in the form of “mini-brains” derived from stem cells. In doing so, she was able to determine an important new piece of information about this cohort. Interestingly, van Loon revealed that on top of sharing a defect in the HUWE1 gene, these syndromes also shared defects in a protein called p53, which plays a major role in basic neurological mechanisms. Although p53 is commonly known for its involvement in cancer, this is the first time research has shown that dysregulation of this protein can lead to problems with the brain’s development and eventually intellectual disabilities. This article highlights the importance of this finding because by determining how rare diseases are related, scientists can look to address multiple disorders at once, which can lead to more rapid developments of future therapies. To learn more about this discovery and the mini-brains described above, check out the article and video below!

CRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis

Gene editing has been a hot topic lately, as many scientists are working to refine this process for potential disease therapeutics. Recently, a new study was published regarding the usage of CRISPR-Cas9 gene editing for a rare heart disease called Transthyretin (TTR) Amyloidosis, also known as ATTR amyloidosis. This life-threatening disease occurs from a progressive build-up of misfolded TTR protein in tissues surrounding the heart and nerves. The accumulation of the TTR protein then makes it harder for the heart to pump blood out to the rest of the body, which then ultimately leads to heart failure. Current forms of therapeutic strategies are aimed at reducing TTR build-up by inhibiting TTR protein synthesis or by stabilizing the protein to prevent it from misfolding and clumping. However, these forms of therapies are limited due to the requirement of long-term administration and can also lead to adverse side effects. 

As a way to address these hurdles, researchers have identified a gene editing tool via the CRISPR/Cas9 system to reduce TTR levels in patients with ATTR amyloidosis. This new form of gene editing is known as NTLA-2001 and is aimed at editing the TTR gene in liver cells, which is where the protein is made, to reduce TTR protein in the body. The study was conducted on six patients with ATTR amyloidosis and a significant reduction of TTR was seen in these patients just after 28 days! With these exciting results showing the impact of gene editing based therapies in potentially developing lifelong treatments for rare diseases, scientists are looking to expand these tools for other diseases as well. To read and learn more about this incredible breakthrough discovery and ATTR amyloidosis, check out the paper and video linked below!

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