#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.

New Resource From KIF1A.ORG

Clinical Trials 101

Want to learn more about the clinical trial process, but you’re not sure where to start? We’ve gathered some information from trusted sources in this new KIF1A.ORG resource: Clinical Trials 101.

Recent KIF1A-Related Research

The influence of whole-genome sequencing on the diagnosis rate and treatment of childhood neurological diseases

Researchers out of Germany and Taiwan recently published a study aiming to conduct whole-genome sequencing (WGS) on children with neurological diseases. More specifically, the goal of their research was to study the diagnosis rate of WGS and further understand the clinical applicability of WGS after genetic diagnosis. But first, as a reminder, what is WGS? WGS is a very comprehensive technique used to sequence, or read, an individual’s genome. Like the name suggests, the technique is considered comprehensive because it sequences the entire genome (or an individual’s complete set of genetic instructions), unlike other techniques that may only sequence specific parts of the genome.

In this three-year study, the 214 enrolled patients were divided into four groups: patients with neurodevelopmental disorders, patients with epilepsy, patients with neuromuscular diseases, and patients with movement disorders. Impressively, 43.9% of the patients were diagnosed by the whole genome sequencing test with highest rate of diagnosis falling in the neuromuscular disease category at 62.5%. Unsurprisingly, KIF1A made an appearance in this study as one of the identified mutated genes for both neurodevelopmental disorders (two individuals) and movement disorders (one individual), with all three KIF1A patients categorized as missense mutations. Of these three KIF1A patients, two were classified under severe psychomotor disorders and spastic paraplegia while the third patient had mild clinical symptoms categorized under autosomal dominant spastic paraplegia. From this study we gain more evidence about the utility of WGS as a genetic diagnostic tool in children and continue our reporting trend of KIF1A being a critical gene of investigation in neurological diseases. If you are having issues with language accessibility on this article, we suggest using Google Translate for your desired language output. To learn more about WGS, check out the video below!

Rare Disease News

The first molecular map describing human cerebellar development

The brain continues to be a mystery to many, as there still remains a lot unknown about this organ that is responsible for many complex processes in our body. Different regions of the brain contribute to different functions and uncovering the relationship between brain structure and function continues to be a hot topic explored in research. One part of the brain that is still understudied and poorly understood is the cerebellum. This major structure is in the hindbrain and is important for motor functions, cognition, emotional regulation, and language processing. As the cerebellum is often affected in neurodevelopmental disorders including KAND, researchers are interested in uncovering the development of the human cerebellum. 

In this article, a study directed by the Seattle Children’s Research Institute proved to be the first to detail the description of the cerebellum’s development. From this, researchers hope to create a valuable resource for the scientific and medical community that could give a comprehensive molecular atlas of the expressed genes and cell types during cerebellar development. Altogether, this information can help scientists gain a better understanding of both the development of the human cerebellum and the origins of neurodevelopmental diseases that affect this crucial structure. Already, this tool has allowed other researchers to reevaluate and/or validate their theories on cerebellar development, which is powerful in the path to understanding this region of the brain and its association with disease. To learn more about this study and the cerebellum, check out the article and video below!

With a nudge from AI, ketamine emerges as a potential rare disease treatment

In this article we follow the story of Mateo and family. Mateo was diagnosed with a rare neurodevelopmental condition called ADNP syndrome, a neurodevelopmental genetic disorder caused by mutations in the ADNP gene. Like many rare diseases there is currently no treatment approved for ADNP syndrome, leaving Mateo’s parents and loved ones searching for the treatment/cure Mateo needs. In 2019 however, a new artificial intelligence tool called mediKanren provided a link to a potential drug for ADNP syndrome patients: ketamine. While sometimes categorized as a recreational drug, ketamine has long been approved as a safe anesthesia drug in kids and has been shown to upregulate ADNP in a way that could be beneficial as a treatment for the ADNP syndrome community. On paper, this looks like a picture-perfect example of drug repurposing. Unfortunately, like many other rare disease organizations in this position, identifying a potential drug for repurposing is just the tip of the iceberg. Throughout this piece, many challenges faced by small rare disease organizations are discussed such as meaningful improvements in symptoms vs. clinical trial data, the challenges of investing in a treatment with small market potential, and the slow movement towards drug approval while battling against a ticking clock. To read more about this story, click the button below.

“We want to design it in a way that it can actually get approved… because at the end of the day, if we’re going to make this available to the families, it needs to be covered by insurance. And in order to get it covered by insurance, it needs to be approved by the FDA.”

Alexander Kolevzon, MD, Mount Sinai

Leave a Reply

Your email address will not be published. Required fields are marked *