#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

Morphology and gene expression profiling provide complementary information for mapping cell state

When thinking through the process of therapeutic development or finding treatment for rare disease, one topic that commonly emerges is how to build the best assay possible to test a specific treatment. But, what is an assay? By definition, an assay is an investigative (analytic) procedure in laboratory medicine, mining, pharmacology, environmental biology and molecular biology for qualitatively assessing or quantitatively measuring the presence, amount, or functional activity of a target entity. In other words, an assay is a special type of test that is set up to measure a very specific biological process and help answer a specific question. We often think of assays being used in drug development that can be used to help answer the question “is this drug effective or is it not?”.

The pre-print paper we are sharing today describes two types of assays that can be used to answer this question called L1000 and Cell Painting. Both of these assays are designed to measure how cells may change in response to certain drugs, however they do so in different ways. The L1000 assay measures changes in gene expression, or how our genetic material is turned “on” or “off” to perform it’s intended function (like making a specific protein). The Cell Painting assay measures changes in cell morphology, describing cellular characteristics like shape, size, and form. In this study, the authors applied over one-thousand small molecule drugs to cells to compare the differences between these two assays. While some differences were identified between assays, the authors of this study determined that both L1000 and Cell Painting assays provide a “complementary view” of how the administration of certain drugs can change/alter cells, which is an important step in drug discovery. Want to learn more about how technology is advancing our ability to visualize how our cells look and behave? Check out the video below!

Rare Roundup

CZI Awards $13 Million to Patient-Led Organizations Advancing Rare Disease Research

KIF1A.ORG was one of 30 patient-driven rare disease organizations to join CZI’s first Rare As One Network cohort in 2020. Through this program, we received a $450,000 capacity-building grant and access to training and a collaborative network of peers who are driving progress against rare disease. This program has been a game-changer for KIF1A.ORG, and we are thrilled to see CZI welcome 20 new organizations into the Rare As One Network!

“Patients are experts in their own diseases, and their knowledge and commitment to advancing progress in their disease areas has the power to center patient priorities and dramatically accelerate the pace of research,” said Heidi Bjornson-Pennell, CZI Rare As One Program Manager. “The RAO Network is proud to lift up these efforts by offering new tools, funding, and capacity-building support and training to help these organizations grow and scale.”

Mapping the effects of genetic variation, one letter at a time

When discussing disorders like KAND, we often use the term “gene variant” to describe the DNA level changes in the KIF1A gene that can lead to the clinical manifestations. However, did you know that we all have variation in our genomes and that this variation is not always considered pathological, or disease causing? In fact, genetic variation is the reason why humans can have brown eyes, blue eyes, green eyes, and so on! But what is the impact of this genetic variation on a larger level? A new project called the Atlas of Variant Effects (AVE) aims to answer this question by generating a “high-resolution map of all possible gene variants and their effects on protein function and physiology.” The hope is that this type of map can provide important information to help improve the diagnosis and treatment of human diseases. Want to learn more about AVE? Check out this Q&A style article we are featuring this week by clicking the button below!

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