#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

KIF1B-beta mutations detected in hereditary neuropathy impair IGF1R transport and axon growth

This week we are shining the spotlight on a closely related sibling of KIF1A… the one and only, KIF1B! Well, that’s not entirely true because there are actually two versions, or isoforms, of KIF1B known as KIF1B-alpha and KIF1B-beta. This article highlights the latter, KIF1B-beta. KIF1A and KIF1B-beta share a lot of characteristics: they are structurally very similar, they both transport cargo along microtubules, they both play very important roles in our nervous system development and overall health, and they both have known point mutations that are linked to neurological diseases and disorders.

Despite having similarities, KIF1A and KIF1B-beta also have many differences. For instance, they do not transport the same cargo. This paper identifies a KIF1B-beta cargo known as the Insulin-like growth factors 1 receptor (IGF1R), a cargo that plays an important role in neuronal survival. While not focused on KAND, this paper also makes a connection between point mutations of KIF1B-beta and Charcot-Marie-Tooth disease type 2A (CMT2A) neuropathy. Furthermore, we learn that KIF1B-beta is an important player in a process called axonal outgrowth, or the generation and development of an axon, which is related to its ability to transport IGF1R in neurons. Want to learn more about Charcot-Marie-Tooth and other inherited neuropathies? Check out the video below from our friends at HNFoundation.

Rare Disease News

1st Patients To Get CRISPR Gene-Editing Treatment Continue To Thrive

In June 2020, we featured the story of Victoria Gray, noted as “the first person with a genetic disorder to get treated in the United States with the revolutionary gene-editing technique called CRISPR.” Now, 6 months later, NPR is catching up with Victoria again to talk about how her treatment is going. Spoiler alert: it’s going amazingly well. Successful stories of gene therapy in one type of disease bring a sense of encouragement to us, and many other rare diseases, that hope to one day have a gene therapy treatment. Victoria, we thank you for being a pioneer and paving the way for future gene therapy approaches.

“It is opening the door for us to show that this therapy can not only be used in sickle cell and thalassemia but potentially can be used in other disorders” 

-Dr. Haydar Frangoul

Watch RARE HUMANS: Turning Hope into Action

This powerful documentary features 8 rare disease families, including the KIF1A.ORG community, changing the future of medicine as they pursue their missions to cure the incurable. These inspiring stories of love, loss and determination prove that every one of us has the ability to turn hope into action. RARE HUMANS was produced and directed by Cheryl-Lynn Townsin, a rare disease advocate who lost her daughter Lexi to Blau syndrome last year. This past week would have been Lexi’s 8th birthday. Her legacy lives on forever.

‘Frustrated and panicking’: For some rare disease patients, shortages of protective gear pose a continued threat

Personal protective equipment, or PPE, is equipment used to reduce exposure to hazards in our environment. This can include eye goggles for those working in a scientific laboratory, hard hats for those working on construction sites, or sterile gloves for healthcare workers. Masks are a type of PPE that have made their way into most everyone’s lives around the world as a result of the COVID-19 pandemic. However, while most of the world had started relying on masks for safety within the last year, this is not a new concept for many rare disease families. In fact, a survey by the National Organization for Rare Disorders tells us that “almost half of rare disease patients and care givers rely on PPE to manage infection risk related to their rare disease,” with 1 and 5 requiring PPE constantly. This article amplifies the voices and communicates the experiences of rare disease families in trying to access PPE during the COVID-19 pandemic. Due to nation-wide shortages in the United States, what was once a routine part of life has become a Sisyphean task for many in the rare disease community. Click the button below to learn more.

The world just wants it to be over. People are getting pandemic fatigue… I’ve lived with this for 44 years. I don’t get to be tired.”

Lauren Ruotolo, President of FD/MAS Alliance

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