#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 Volunteer Aileen Lam and Chief Science Officer Dr. Dominique Lessard. Send news suggestions to our team at impact@kif1a.org.

KIF1A-Related Research

The classification and therapeutic applications of molecular motors

Molecular motors, including KIF1A, are a unique class of proteins with a wide range of roles and properties in many of the systems in our bodies. Furthermore, molecular motors have long been identified as causes for disease, like KIF1A’s role in KAND. In this case, the molecular motors are often the direct therapeutic target, meaning that therapeutic approaches are focused on “fixing” a broken molecular motor. However in other cases, researchers are trying to utilize some of the unique properties of molecular motors, like the transportation of cargo around our cells, to create “nanocarriers” to help deliver drugs in our bodies. From this information, we can see why molecular motors have become hot targets for the treatment of human disease!

Today we are featuring a review article that walks us through types of molecular motors and the therapeutic applications, mainly molecular motor specific drugs, that have been used in the past. For the kinesin superfamily of motors specifically, there have been several drugs/compounds that are aimed at modulating motor function with most drugs focused on motor inhibition. This review article ends with a discussion of current problems and future prospects of molecular motor therapeutics, highlighting the need to increase our understanding of how molecular motors function to optimize therapeutic approaches. As we mentioned, this paper is considered a “review article” which is a different than the style of paper we feature most often (primary literature papers). What exactly is a review article? Check out the video below!

Rare Roundup

Penn Study Suggests Genetic Disease CDKL5 Deficiency Disorder Could Be Treatable after Childhood

We’re celebrating promising research for the CDKL5 community, which shows this childhood-onset developmental disorder may be treatable in adulthood. Core symptoms of CDKL5 deficiency disorder (CDD) include epileptic seizures, limited ability to walk, inability to speak, cortical visual impairment, and intellectual disability. Researchers at the University of Pennsylvania used mouse models to activate and de-activate the CDKL5 gene in mice at different stages of life to explore CDKL5’s role in brain development and whether therapeutic interventions after childhood could be effective.

“‘One of the big questions for any genetic disease concerns the curability of the disorder and the extent of the time window in which a therapeutic approach, such as gene therapy, can help patients. Encouragingly, we found evidence from these mouse experiments that CDD is likely treatable, even after childhood,’ said senior author Zhaolan “Joe” Zhou, PhD, a professor of Genetics at Penn.”

While CDKL5 and KIF1A mutations do not share the same mechanism of disease, we’re encouraged to see this hopeful news from a fellow rare developmental disorder.

Rare Disease Therapeutics M&A Tops $29 Billion in Third Quarter of 2021

Do you think rare diseases are too rare for pharmaceutical companies to care? Think again. In this analysis from Global Genes, we’re seeing strong investment in the rare disease space. At KIF1A.ORG, we’re continuing to expand our suite of Tools for Development to attract pharmaceutical and biotech companies to invest in KAND. In this new era of genomic medicine, our community of families, scientists, industry partners and supporters like you are leading the way to treatments and cures!

“Investors remain highly confident about precision medicines genetic therapies and the technologies in development to make them happen, including gene and cell therapies, gene editing, RNA-based therapies, and novel modes of delivery to enable them.”

RAREcastEpisode #353 – Creating a Playbook for Bespoke Gene Therapies

This week we are highlighting a recent episode of the RARECast podcast featuring Dr. P.J. Brooks, deputy director in the Office of Rare Disease Research at the National Center for Advancing Translational Sciences (NCATS). In this interview, Dr. Brooks covers gene therapy basics, gives an update on NCATS’ gene therapy programs, and discusses the role of regulatory agencies and industry in helping make these programs successful.

“…it’s not going to be ‘bump free’… sometimes you learn things from what didn’t work but… but some of the learnings about how you can streamline this process may also be applicable to other types of genetic therapies.”

Dr. P.J. Brooks, deputy director in the Office of Rare Disease Research at the National Center for Advancing Translational Sciences (NCATS)

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