KIF1A.ORG has a lot to share this month including the 2023 KAND Family & Scientific Engagement Conference registration and hotel room links! Let’s get started!
2023 KAND Family & Scientific Engagement Conference!!
It’s time to sign up for the conference and reserve your hotel rooms! If you are attending in person please fill out our conference registration form and hotel room booking form. If you are joining us virtually, please fill out our conference registration form to ensure that you receive streaming information for the event! The 2023 KAND Conference webpage has information related to:
– registration link, hotel room link, KOALA participation, and agenda topics
The KAND Conference will bring together patients, family members, researchers, clinicians, treatment developers, and friends of the KIF1A.ORG community. We look forward to seeing everyone in August!
New information from Dr. Chung about the KOALA study and potential future ASO trial!
All KAND families!!! Please log into the Private Family Resource page on our website to watch a new video from Dr. Chung about the importance of the KOALA study and information about a potential future ASO trial.
If you need help finding this video, please email Angie@kif1a.org for details.
KOALA Travel Reimbursement Program Completion
THANK YOU to our corporate sponsor who helped KIF1A.ORG reimburse almost $100,000 to KOALA study participants since enrollment began. This money was used to lighten the financial costs associated with traveling to the study. Our community is incredibly grateful for their support.
The KOALA travel reimbursement program is now complete. Moving forward our organization will be hosting community fundraisers and helping facilitate personal crowdfunding campaigns to raise money for future participants.
For more information about our community fundraiser or how to host your own individual crowdfunding campaign, please visit our Fundraiser website page by clicking the link above.
KIF1A Day is on April 28th!
Every year we celebrate KIF1A Day on April 28th. If you are new to our community, it’s important to know that April 28th is also Superhero Day! This day perfectly captures the unique and relentless spirit of our KAND patients who don their superhero caps every morning, put on a brave face, and fight for their lives. It’s a perfect day (and week!) to celebrate our strong, courageous, and fearless superheroes!
This year, we are honoring our warriors and superheroes by raising money to help them travel to New York City and participate in the KOALA research study conducted by Columbia University Medical Center. Participating in this research study is extremely important for our community collectively and for each warrior individually. But traveling is expensive and prohibits many of our warriors from participating in this crucial research.
Our goal is to raise $50,000 to help more superheroes participate in the KOALA research study during the 2023 KAND Family & Scientific Engagement Conference in August. Please check out our website for more details on how to donate and how you can help share our fundraiser through your own social media posts and personal network.
LET’S HELP THEM FLY!
Global Genes Rare Drug Development Symposium 2023: Collaborate — Go Farther, Together
Join Global Genes May 1-3, 2023 in Philadelphia, Pennsylvania for the RARE Drug Development Symposium 2023
“The RARE Drug Development Symposium, hosted by Global Genes and the Orphan Disease Center of the University of Pennsylvania, equips advocates with the knowledge, skills and connections they need to advance therapy development for their communities. RDDS 2023 focuses on collaboration – the foundation of success in rare disease research.
You will meet individuals, advocacy leaders, industry, and research experts who have been there and done it, over two days of in-person only panel discussions, hands-on workshops, and expert office hours.”
Luke Rosen, founder of KIF1A.ORG, will be speaking about using new technologies in early stage research on Tuesday May 2nd. For more information, check out their website!
Research Roundtable in March… All about KIF1A protein structure!
What do we mean by protein structure? We’re glad you asked!
If you were to stretch out the KIF1A protein in a line, you could count up all of the amino acids one by one, and that would help you understand what the protein is made of. But this is similar to putting all the disassembled parts of a truck in a straight line – it’s not easy to see how the pieces fit together or how the truck runs unless you’re an expert mechanic.
The KIF1A protein doesn’t exist in a straight line. It folds in specific ways, into a protein structure, to do its job. Structural biologist Dr. Sosa is an expert mechanic who can look at exactly how the individual parts of the KIF1A protein allow it to fold into its intended structure.
This important structural understanding will help us learn more about how KIF1A mutations cause dysfunction, and how we can correct that dysfunction!
More information on this topic can be found in the March Research Roundtable Summary. Take a look!
Science Saturday Highlights!
– New Biomarker for Epilepsy: Lennox-Gastaut research identified a new biomarker for epilepsy in their patient population, call generalized paroxysmal fast activity (GPFA).
– Cargo Sorting: Researchers in Mumbai, India studied how KIF1A proteins deliver different cargo (think of a delivery truck full of different packages) along the neuron (think of a neighborhood street) and how proper sorting of the cargo is carried (think of delivery worker sorting packages and delivering them to the correct house). To understand how this cargo sorting happens, the authors mutated (or altered) several genes involved in the process and asked if KIF1A cargo transport would change.
– FDA: The United States Food and Drug Administration has announced its approval of the use of biomarkers in the assessment of gene therapies.
– Mosaic Mutations: Researchers in Zhengzhou China identified a family with inherited mosaic KIF1A mutations and studies their genetic sequencing to better understand KIF1A mosaicism. This post highlights the three different types of mosaicism and how they can affect the individual and their offspring.
– Recessive vs. Dominant gene expression: Researchers in South Korea studied a family with late onset gait disturbances. Genetic testing pointed to a KIF1A amino acid deletion outside the motor domain. One sibling had two copies of the deletion (one copy from each parent) and this caused disease symptoms; while the other sibling only had one copy of the deletion (inherited from only one parent) and did not have any symptoms. This is an important case study as it helps answer questions about recessive and dominate gene expression and how they might relate to KIF1A mutations.
– Brain Organoids: Researchers at the University of Queensland are now using cells from patients with Hereditary Spastic Paraplegia Type 56 to grown brain organoids and test potential gene therapies. Brain organoids are cells grown into a tissue that better represents the genetic makeup of real patients and provide more insight into the potential of a drug without risking human health.
– KIF1A dysfunction in creatine deficiency: Researchers studying mice unable to absorb creatine, a molecule that sustains cellular metabolism, found that these mice had altered levels of KIF1A, which could indicate KIF1A dysfunction. Healthy KIF1A expression was restored with a version of creatine that is easily absorbed into cells. People with creatine deficits exhibit some KAND-like symptoms, and this study could represent a link between the pathology of creatine deficiency and KIF1A mutations.
Whatever role you play in our community, we need you. Thank you for all that you do to help us realize our mission for KIF1A superheroes everywhere.