We’ve got a lot to catch up on and can’t wait to dive right in!
2023 KAND Family & Scientific Engagement Conference!!
We are excited to host the 2023 KAND Conference in New York and hope you will be joining us either in-person or virtually!
WHAT: KOALA Research Study and 2023 KAND Family & Scientific Engagement Conference
WHERE: TWA Hotel located at the JFK International Airport in New York, NY
WHEN: There will be two main parts of this event: KOALA research participation and the 2023 KAND Conference. Depending on if you are participating in one or both of these parts, your dates for arrival/departure may vary.
– KOALA participation (scheduled with Columbia University/Chung Lab) will be held at the TWA on August 3-5 (please arrive on the 2nd)
– 2023 KAND Conference will be held at the TWA on August 5-6
The registration link for the conference will be available very soon and will include a link to book hotel rooms at the TWA at a discounted rate.
KANDY the KOALA says “THANK YOU!” to everyone who has participated in the study so far!
If you would like to enroll in the KOALA study (or have already confirmed enrollment), please follow the link below and complete the survey form.
*** Even if you have already spoken with Sean Calamia from the Columbia University Medical Center study team to confirm your participation in the KOALA study at the 2023 KAND Conference, PLEASE complete the survey form below, as it has some additional questions.
Please be sure to indicate whether you can attend the 2023 KAND Conference to participate in the KOALA study assessments on Thursday, Friday, and/or Saturday (Aug. 3-5). The conference will take place at the TWA Hotel (connected to New York’s JFK International Airport). All KOALA assessments will be conducted at the TWA hotel so there will be no need to leave the property to participate in research while attending the conference. This is a great opportunity to enroll in the KOALA study while also meeting other wonderful KIF1A families.
CLICK HERE TO FILL OUT KOALA SURVEY
You can also copy and paste this URL into your browser https://cumc.co1.qualtrics.com/jfe/form/SV_bP0knHl3tqv3xum
Dr. Wendy Chung is moving to BOSTON!
“I am looking forward to this opportunity to join Boston Children’s Hospital’s leadership team,” says Dr. Chung. “From clinical care to groundbreaking research and teaching, I look forward to the collaborative and innovative ecosystem that brings together so many types of people, working together for the benefit of children and families.”
Congratulations Dr. Chung, we are excited for you!
*KIF1A.ORG is in frequent contact with Dr. Chung and her lab, and will work through how this transition will impact our community. We will update you as more information is available!
On November 29, 2022 our community once again showed how relentless we are, and raised $90,826 on #Giving Tuesday!
To all who have helped make this our most successful Giving Tuesday yet, we extend an enormous thank you. Together we march forward on our mission to find a treatment and cure for KAND!
Learning about KIF1A at Stanford University
Dr. Rebecca Shi is an instructor at Stanford University who has created a novel KAND-focused undergraduate genetics techniques lab course. How cool!
Dr. Shi and KIF1A.ORG Chief Science Officer Dr. Lessard have been working together to design the course using worm models with KIF1A mutations and, importantly, will be introducing patient perspectives and stories to the students on April 19, 2023. These future scientists are getting an early in-depth exposure to KIF1A variants and how they contribute to KAND.
This is just one part of how our science team is out in the world partnering with other scientists and researchers to further our mission and advocating for our warriors. Way to go Science Team! Thank You!
New Interim President, Angie Fuller
KIF1A has a new Interim President, Angie Fuller. Angie lives in Boise Idaho USA with her husband and two boys ages 10 and 8. Her 10 year old, Weston, is her superhero and loves spending time with him outdoors. Angie has a Bachelor of Science Degree in Nursing (BSN) and is a Registered Nurse (RN). She has close to 20 years of experience working at a regional medical center in many different roles, and is looking forward to using her experience and knowledge to assist our organization and community. Her email address is Angie@kif1a.org. Welcome Angie!
Rare Disease Day Interview with Luke Rosen
Luke Rosen, founder of KIF1A.ORG, spoke with NewYorkBIO on Rare Disease Day this year. Watch their conversation and discussion about rare disease organizations and KIF1A.ORG’s mission to find a cure for this generation of patients (typo on video says Feb 28, 2022 instead of 2023.)
Chan Zuckerberg Initiative #RareAsOne Grant Completion
In January 2020, KIF1A.ORG was awarded a grant from the Chan Zuckerberg Initiative (CZI), for three years. The ultimate objective of KIF1A.ORG’s Rare As One Project was to expand and engage a collaborative Research Network to accelerate an efficient path to KAND treatment. Over the past 3 years, that objective became a reality and right now our Research Network has over 160 scientists and clinicians! Thank you CZI for supporting our organization, mission, and warriors!
New Partnership with VibeBio
This month’s first Research Roundtable highlighted a new partnership our science team established with VibeBio.
VibeBio creates tools that can collect scientific findings scattered all over the world, display them in intuitive ways, and align them in a KIF1A interactome. This KIF1A interactome can then be used by scientists, researchers, biotech companies, and clinicians to access KIF1A information that can help inform their projects or clinical care.
Research Roundtable in November… all about MICE!
In November 2022, The Jackson Laboratory (JAX) shared their KIF1A research with our Research Network. JAX is creating animal models to better investigate and treat KAND. They currently have mice carrying KIF1A mutations including T99M (model in progress), L181F, and P305L mutations.
Research on these mice will be invaluable for designing gene therapies that are as effective, specific, and safe as possible.
Science Saturday Special Edition
In January, a special edition of Science Saturday was shared, highlighting a type of publication called a literature review, which collects and summarizes findings from published studies. These literature reviews are invaluable resources that allow researchers to see patterns and gaps in our understanding of KIF1A and KAND. They can also make it easier to explain the importance of rare disease research to new stakeholders by summarizing complex information. In this special edition, we share two such reviews that tackle different parts of the KIF1A field, as well as a 200 page Ph.D. dissertation about KIF1A.
Every week, we see advancements in KIF1A research and therapeutic development for rare and neurodegenerative disorders, and we want you to stay informed. If you’ve been behind on our weekly #ScienceSaturday, it’s a good time to catch up. What topics are you interested in learning more about? Sending us an email at email@example.com to suggest articles or content!
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.