#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

A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children

The complexities of KAND lie within the variety of symptoms that patients experience on a spectrum of severity. One of the clinical signs that is characteristic of KAND is cerebellar atrophy (CA), or the degeneration of the cerebellum, a part of the brain that is responsible for coordinating muscle activity. As there currently is no effective treatment to address the complications of cerebellar atrophy, further research conducted to gain a better understanding of this process is crucial. 

In this article, the authors propose an approach that considers multiple forms of investigations when seeing children with cerebellar atrophy, as a way to build a clinical-based diagnostic workup that guides accurate diagnoses. The paper goes into great detail regarding the many types of tests they conducted, such as brain MRIs and lab screenings, and shared the results seen amongst their group of patients in order to determine if there were similarities or patterns with these CA cases. The researchers found that these laboratory investigations were especially effective for patients that displayed observable characteristics of CA. For patients with CA that didn’t initially have a successful diagnosis, this team showed that muscular or nervous system related biopsies, or the examination of removed tissue to determine the cause of disease, was particularly helpful in reaching a diagnosis.

Altogether, this comprehensive study was conducted to gain more insight on the global clinical presentation of CA in patients. Of note, two patients in this study had a recorded KIF1A mutation. As KIF1A-Associated Neurological Disorder is one of the causes for CA, learning about different ways to reach an accurate diagnosis is extremely useful in helping patients receive the specific care they need. Because KIF1A mutations can only be confirmed through genetic testing, it is critical for patients and families to have access to genetic testing to reach a timely and correct diagnosis. To read more about this study, check out the detailed paper that is linked below!

Rare Disease News

CRISPR Clinical Trials: A 2021 Update

Major CRISPR advancements were made in 2020, as this revolutionary technology was awarded a Nobel Prize, used to study and develop tests for COVID-19, progressed clinical trials for an array of diseases, and so much more! In 2021, we can be on the lookout for the great strides to come that CRISPR will provide for the field of precision medicine. With all that being said, you might ask, what is CRISPR? Initially used by bacterial immune systems, CRISPR has been adapted to other organisms as a genomic tool to edit DNA. With this type of machinery, the possibilities and implications of CRISPR to therapeutic developments are limitless! In this article, the author gives a comprehensive 2021 update on CRISPR technology and shares about the future projections of CRISPR projects to watch for in the coming years. 

Currently, there are five areas that have ongoing clinical trials using CRISPR: blood disorders, cancers, eye disease, chronic infections, and protein-folding disorders. Two blood disorders that CRISPR has been focusing on are sickle cell disease (SCD) and beta thalassemia, both of which occur due to a mutation in a gene that encodes hemoglobin, a protein that transports oxygen throughout the body. CRISPR is used in these cases to increase the amount of fetal hemoglobin in the body to counter the defects of the mutated hemoglobins and was met with success when used to treat Victoria Gray, the first person in the U.S. with SCD to undergo CRISPR-based therapy, and 12 other patients. As for cancers, CRISPR is being used to help prevent cancer cells from escaping the body’s immune response and is currently targeting blood and lung cancers. Looking into eye diseases such as Leber Congenital Amaurosis (LCA), a main cause of inherited blindness in children, CRISPR provides a form of treatment by editing the dysfunctional gene that is responsible for sending signals to the brain, helping patients regain vision. Chronic infections, like reoccurring urinary tract infections (UTIs), can also be targeted with CRISPR by locating and killing the bacteria causing harm and illness. Lastly, in rare protein-folding diseases, CRISPR is used to break and reduce the amount of defective, folded protein in the body, alleviating symptoms that come with accumulated protein clumps. For all these ongoing clinical trials, researchers are careful to follow up with patients to determine if there are potential long-term effects and are making efforts to test safety and efficacy measures. Additionally, they are also working to explore other delivery methods and to increase treatment accessibility to diverse patient groups. With these projections for the future progress of CRISPR technology, we can expect big advancements in the years to come! To read more about this 2021 update and to learn more about the potential of CRISPR-based therapies, check out the article and video below!

#RareDiseaseTruth: how a hashtag is changing the conversation this Rare Disease Day

If you follow rare disease community members on social media, you’ve likely come across the recent hashtag #RareDiseaseTruth. Started by Neena Nizar, EdD, founder and president of The Jansen’s Foundation, this hashtag was created to adjust the dialogue around rare diseases by sharing the hard truths of her rare disease experience. Neena’s honesty and openness resonated with many in the rare disease community and in just two weeks, this new hashtag reached over 2 million people. Have a listen to this discussion between Neena and Andra Stratton to learn more about the inception and now movement that is “my #RareDiseaseTruth” taking the internet and rare disease community by storm!

Leave a Reply

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