Podcasts about kif1a

I detta avsnitt får vi ta del av berättelsen om Lyon, en liten pojke som levde med den ovanliga neurologiska sjukdomen KIF1A. Vi pratar om livet med en svår diagnos, om kampen för rätt vård och stöd – och om sorgen efter att ha förlorat ett älskat barn.Ett ärligt och gripande samtal om kärlek, maktlöshet och att försöka hitta en väg framåt när livet blivit något helt annat än man trodde. Hjälp till att äga din sorg här: https://plus.acast.com/s/utan-dig-ag-din-sorg. Hosted on Acast. See acast.com/privacy for more information.

When Luke Rosen's daughter was diagnosed with KIF1A—a rare, progressive neurological disorder—he didn't wait for answers. He and his wife built a community, launched a nonprofit, and became a driving force in rare disease research. In this episode, Luke shares how patient-led science accelerates treatments and reshapes what's possible for families like his. Show Notes  Sounds of Science - N=1 Episode Charles River | Rare Disease Charles River | Rare Disease for Drug Discovery Charles River | ASO Screening Services Personalized ASO Provides Improvement for a Girl with KAND< an Ultra-rare Disease SCA3: A Family Affair Susannah's Superhero Story 

On this MADM, you are going to hear from Valerie Morris as she shares about KIF1A and Cure for Emmery. I hope you will listen and share this segment with others. Sponsor: Bob Sykes Bar B Q BobSykes.com

On tonight's show, I'll have Valerie Morris as she shares about KIF1A and Cure for Emmery!

On this MADM, Valerie Morris is sharing about research for KIF1A and Cure for Emmery. Sponsor: Athens Bible School AthensBible.com

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On this MADM, you are going to hear from Valerie Morris as she shares about KIF1A and Cure for Emmery. I hope you will listen and share this segment with others. Sponsor: Happy Hollow Outdoors

Jennifer Bain, MD, PhD, is an assistant professor of neurology and pediatrics at Columbia University Medical Center.  Dr. Bain completed both an M.D. and PhD. as well as general pediatrics residency at Rutgers – New Jersey Medical School in New Jersey.  She then trained in Child Neurology at New York Presbyterian – Columbia University Medical Center in New York City and is a board-certified neurologist with special certification in Child Neurology seeing both inpatient and outpatient pediatric neurology patients. Her clinic focuses on diagnosis and management of autism, cerebral palsy and neurodevelopmental disorders in addition to genetic disorders associated with such conditions. Her early research career focused on spinal cord and brain development after injuries such as spinal cord injury and perinatal hypoxic ischemic encephalopathy.  During her residency training, her clinical research focused on studying autonomic dysfunction in children with autism spectrum disorders and neurological complications during extracorporeal membrane oxygenation. She currently works as a physician scientist at Columbia University specializing in general pediatric neurology with expertise in development, behavioral neurology, autism and cerebral palsy.  Her clinical research has focused on studying the genetics of neurodevelopmental disorders including autism and cerebral palsy. The genes she has worked closely on include HNRNPH2 and related disorders, GRIN disorders, KIF1A. She is interested in understanding clinically meaningful measures in families affected by neurodevelopmental disorders and measuring longitudinal trajectories in such disorders. She has been working closely with several patient advocacy groups, researchers, and Simons Searchlight to continuously move forward in the understanding of the developing and aging brain. JOWMA Podcast | Learn The Signs, Act Early: Dr. Lisa Shulman on the Early Identification and Treatment of Autism https://anchor.fm/jowma/episodes/Learn-The-Signs--Act-Early-Dr--Lisa-Shulman-on-the-Early-Identification-and-Treatment-of-Autism-e22noo5 JOWMA Podcast | All Brains Belong with Dr. Mel Houser, MD https://anchor.fm/jowma/episodes/All-Brains-Belong-with-Dr--Mel-Houser--MD-e1t1rjn JOWMA Podcast | Uniquely Human with Dr. Barry Prizant, PhD, CCC-SLP https://anchor.fm/jowma/episodes/Uniquely-Human-with-Dr--Barry-Prizant--PhD--CCC-SLP-e1ogbg2 JOWMA Podcast | It Takes A Village- Advocating for Inclusion with Esti Schiffmiller https://anchor.fm/jowma/episodes/It-Takes-A-Village--Advocating-for-Inclusion-with-Esti-Schiffmiller-e1klr32 JOWMA Podcast | On The Spectrum: All About Autism With Dr. Devorah Segal https://anchor.fm/jowma/episodes/On-The-Spectrum-All-About-Autism-With-Dr--Devorah-Segal-e1eqv4u JOWMA Podcast | "If you've met one individual with autism, you've met one individual with autism." The Journey of Dr. Stephen Shore, Autistic Professor of Special Education https://anchor.fm/jowma/episodes/If-youve-met-one-individual-with-autism--youve-met-one-individual-with-autism--The-Journey-of-Dr--Stephen-Shore--Autistic-Professor-of-Special-Education-e1eqv4k_______________________________________________________ ⁠⁠⁠Become a JOWMA Member!⁠⁠⁠ www.jowma.org  ⁠⁠⁠Follow us on Instagram!⁠⁠⁠ www.instagram.com/JOWMA_org  ⁠⁠⁠Follow us on Twitter!⁠⁠⁠ www.twitter.com/JOWMA_med  ⁠⁠⁠Follow us on Facebook! ⁠⁠⁠https://www.facebook.com/JOWMAorg/ ⁠⁠⁠Stay up-to-date with JOWMA news! Sign up for the JOWMA newsletter! ⁠⁠⁠https://jowma.us6.list-manage.com/subscribe?u=9b4e9beb287874f9dc7f80289&id=ea3ef44644&mc_cid=dfb442d2a7&mc_eid=e9eee6e41e

On this MADM, you are going to hear from Valerie Morris as she shares about KIF1A and Cure for Emmery. I hope you will listen and share this segment with others. Sponsor: Green's Dependable Hardware Russellville, AL

On this MADM, you are going to hear from Valerie Morris as she shares about KIF1A and Cure for Emmery. I hope you will listen and share this segment with others. Sponsor: Bankston Motor Homes BankstonMotorHomes.com

Samma dag som inspelningen av detta avsnittet ska ske så tar Frida efter lite om och men sej kommunalt till jobbet, då hon plötsligt står öga mot öga med en biljettkontrollant. Vi pratar om Jenne's drömmar och om Jenne's drömmar.Och både Jenne och Frida är utbildade Nagelteknologer genom Lilly Nails, bara i olika tidsepoker!

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.07.25.550108v1?rss=1 Authors: Falnikar, A., Quintremil, S., Helmer, P., Vallee, R. B. Abstract: Radial glial progenitors (RGPs) are highly elongated epithelial cells that give rise to most stem cells, neurons, and glia, in the vertebrate cerebral cortex. During development, the RGP nuclei exhibit a striking pattern of cell cycle-dependent oscillatory movements known as interkinetic nuclear migration (INM), which we previously found to be mediated during G1 by the kinesin Kif1a, and during G2 by cytoplasmic dynein, recruited to the nuclear envelope by the nucleoporins RanBP2 and Nup133. We now identify Nup153 as a nucleoporin anchor for Kif1a, responsible for G1-specific basal nuclear migration, providing a complete model for the mechanisms underlying this basic, but mysterious behavior, with broad implications for understanding brain development. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.07.19.548188v1?rss=1 Authors: Chai, Y., Li, D., Gong, W., Ke, J., Tian, D., Chen, Z., Guo, A., Guo, Z., Li, W., Feng, W., Ou, G. Abstract: KIF1A, a microtubule-based motor protein responsible for axonal transport, is linked to a group of neurological disorders known as KIF1A-associated neurological disorder (KAND). Current therapeutic options for KAND are limited. Here, we introduced the clinically relevant KIF1A(R11Q) variant into the C. elegans homolog UNC-104, resulting in uncoordinated animal behaviors. Through genetic suppressor screens, we identified intragenic mutations in UNC-104's motor domain that rescued synaptic vesicle localization and coordinated movement. We showed that two suppressor mutations partially recovered motor activity in vitro by counteracting the structural defect caused by R11Q at KIF1A's nucleotide-binding pocket. We found that supplementation with fisetin, a plant flavonol, improved KIF1A(R11Q) worms' movement and morphology. Notably, our biochemical and single-molecule assays revealed that fisetin directly restored the ATPase activity and processive movement of human KIF1A(R11Q) without affecting wild-type KIF1A. These findings suggest fisetin as a potential intervention for enhancing KIF1A(R11Q) activity and alleviating associated defects in KAND. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.06.30.547240v1?rss=1 Authors: Vasudevan, A., Ratnakaran, N., Murthy, K., Ahlawat, S., Koushika, S. P. Abstract: Asymmetric transport of cargo across axonal branches is a field of active research. Mechanisms contributing to preferential cargo transport along specific branches in vivo in wild type neurons are poorly understood. We find that anterograde synaptic vesicles preferentially enter the synaptic branch or pause at the branch point in C. elegans PLM neurons. The anterograde motor UNC-104/KIF1A regulates this vesicle behaviour at the branch point. Reduced levels of functional UNC-104 cause vesicles to predominantly pause at the branch point and lose their preference for turning into the synaptic branch. SAM-4/Myrlysin, which aids in recruitment/activation of UNC-104 on synaptic vesicles, regulates vesicle behaviour at the branch point similar to UNC-104. Increasing the levels of UNC-104 increases the preference of vesicles to go straight towards the asynaptic end. This suggests that the neuron optimises UNC-104 levels on the cargo surface to maximise the fraction of vesicles entering the branch and minimise the fraction going to the asynaptic end. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

ONCE UPON A GENE - EPISODE 187 A Rare Collection - Keep Digging There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Angela, Mom to Yiannis with IRF2BPL, a neurodegenerative disorder When Yiannis was born on a Saturday evening in July 2020, we knew immediately that something wasn't right. He was whisked away to the NICU and nobody could tell us what was happening. Yiannis was in the NICU for more than two weeks without answers. After 18 months, a neurologist started to piece the puzzle together. Through whole exome sequencing, we found Yiannis had two ultra rare fatal progressive neurodegenerative disorders, IRF2BPL and LSM1. We started a foundation, Yellow for Yiannis, to be a leading resource forIRF2BPL funding and for the support of other families that are enduring this disease. Katie, Mom to Beau with KIF1A, a neurodegenerative disorder  On December 17th, 2021, just shy of a month after his second birthday, our son was diagnosed with KIF1A, a super rare genetic condition that affects about 400 people in the world. We had a healthy, happy pregnancy leading to a pretty uncomplicated birth. Beau  met all of his milestones and he was a healthy baby. When discrepancies in his communication, social skills, gross motor and fine motor skills developed, Beau was diagnosed with KIF1A through genetic testing. I encourage any parents who don't feel okay with a diagnosis to keep digging and keep pushing for the safety of your child.  Dana, Sister to Jason and Sean with BCAP31  After years of genetic testing, it was revealed that my brothers Jason, age 21, and Sean, age 18, were both missing six pairs of their x chromosome. There's no cure for what my brothers have. They're the oldest documented case and most families I've met since have received a diagnosis for their kids around 3 years old. It was at that age when my mom noticed that Jason wasn't hitting his milestones. Kelly, Mom to Emma with dopamine transporter deficiency syndrome (DTDS) When my daughter was 2 months old, I started noticing she was missing milestones. I sought out a complex care pediatrician who started running tests and lab work. Emma received a cerebral palsy diagnosis, but I couldn't accept this diagnosis and sought out other opinions. After a genetic panel on neurotransmitters a genetic counselor revealed the real diagnosis- dopamine transporter deficiency syndrome. Had we settled for the CP diagnosis, we wouldn't have known that our daughter's life expectancy was only late adolescence or that a gene therapy clinical trial will be available.  CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.02.26.530068v1?rss=1 Authors: Nadiminti, S. S. P., Dixit, S. B., Ratnakaran, N., Hegde, S., Swords, S., Grant, B. D., Koushika, S. P. Abstract: Synaptic vesicle proteins (SVps) are thought to travel in heterogeneous carriers dependent on the motor UNC-104/KIF1A. In C. elegans neurons, we found that some SVps are transported along with lysosomal proteins by the motor UNC-104/KIF1A. LRK-1/LRRK2 and the clathrin adaptor protein complex AP-3 are critical for the separation of lysosomal proteins from SVp transport carriers. In lrk-1 mutants, both SVp carriers and SVp carriers containing lysosomal proteins are independent of UNC-104, suggesting that LRK-1 plays a key role in ensuring UNC-104-dependent transport of SVps. Additionally, LRK-1 likely acts upstream of the AP-3 complex and regulates the membrane localization of AP-3. The action of AP-3 is necessary for the active zone protein SYD-2/Liprin- to facilitate the transport of SVp carriers. In the absence of the AP-3 complex, SYD-2/Liprin- acts with UNC-104 to instead facilitate the transport of SVp carriers containing lysosomal proteins. We further show that the mistrafficking of SVps into the dendrite in lrk-1 and apb-3 mutants depends on SYD-2, likely by regulating the recruitment of the AP-1/UNC-101. We propose that SYD-2 acts in concert with both the AP-1 and AP-3 complexes to ensure polarized trafficking of SVps. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2023.01.12.523768v1?rss=1 Authors: Park, J., Miller, K. G., De Camilli, P., Yogev, S. Abstract: Axonal transport is key to neuronal function. Efficient transport requires specific motor-cargo association in the soma, yet the mechanisms regulating this early step remain poorly understood. We found that EBP-1, the C. elegans ortholog of the canonical microtubule end binding protein EB1, promotes the specific association between kinesin-3/KIF1A/UNC-104 and Dense Core Vesicles (DCVs) prior to their axonal delivery. Using single-neuron, in vivo labelling of endogenous cargo and EBs, we observed reduced axonal abundance and reduced secretion of DCV cargo, but not other KIF1A/UNC-104 cargo, in ebp-1 mutants. This reduction could be traced back to fewer exit events from the cell body, where EBP-1 colocalized with the DCV sorting machinery at the trans Golgi, suggesting that this is the site of EBP-1 function. In addition to its microtubule binding CH domain, mammalian EB1 interacted with mammalian KIF1A in an EBH domain dependent manner, and expression of mammalian EB1 or the EBH domain was sufficient to rescue DCV transport in ebp-1 mutants. Our results suggest a model in which kinesin-3 binding and microtubule binding by EBP-1 cooperate to transiently enrich the motor near sites of DCV biogenesis to promote motor-cargo association. In support of this model, tethering either EBP-1 or a kinesin-3 KIF1A/UNC-104 interacting domain from an unrelated protein to the Golgi restored the axonal abundance of DCV proteins in ebp-1 mutants. These results uncover an unexpected role for a microtubule associated protein and provide insight into how specific kinesin-3 cargo are delivered to the axon. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

“You know, it's easy to say that default answer that everything's okay, but it's really not. She's lost a lot of her vision, she's got hundreds of seizures at night, and she's having difficulty walking,” shares Luke Rosen about his eight-year-old daughter Susannah.  She was born with KIF1A-associated neurological disorder -- or KAND -- a rare, degenerative genetic disease for which there is currently no cure or treatment.  On this episode of Raise the Line, Luke talks about how he and his wife Sally summoned the strength to move beyond their family's own challenges to create KIF1A.org which is working to rapidly discover a treatment for all patients and families affected by this devastating disorder, but to also create a supportive community.  “Five years later, we have approximately four hundred families around the world that we've identified and there's not one family I know that doesn't play a significant role in what we do.” Thanks to that global community and partnerships with the Chan Zuckerberg Initiative, Columbia University, the n-Lorem Foundation, the Jackson Laboratory and many other organizations, there's reason to be hopeful, as Luke shares with host Shiv Gaglani. “Susannah has been fortunate enough to just have started an experimental treatment. We really are on the brink of several things for, hopefully, the entire community.” Tune in for a candid and moving look at how families and supportive scientists and healthcare providers are mobilizing to fight back against a rare and pernicious threat to their children.Mentioned in this episode: https://www.kif1a.org/

In this week's episode, Charisma Freeman of Charisma Cares Travels shares the ups and downs that come with living life on your terms and balancing motherhood. FREE Workshop: https://bit.ly/goals-time-money Donate to find a cure for Kif1A: www.kif1a.org/donate Get help with special needs travel: https://CharismaCares.as.me/ To watch this episode on YouTube click here - https://youtu.be/igQalPSQcZI You can show your support for the podcast by becoming a patron here - https://anchor.fm/adalia-aborisade/support Feel free to leave a voicemail here - https://anchor.fm/adalia-aborisade/message --- Send in a voice message: https://anchor.fm/adalia-aborisade/message Support this podcast: https://anchor.fm/adalia-aborisade/support

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2022.11.03.514982v1?rss=1 Authors: Mabondzo, A., Harati, R., Broca-Brisson, L., Guyot, A.-C., Costa, N., Cacciante, F., Putignano, E., Baroncelli, L., Skelton, M., Saab, C., Martini, E., Benech, H., Joudinaud, T., Gaillard, J.-C., Armengaud, J., Hamoudi, R. A. Abstract: Creatine transporter deficiency prevents creatine uptake into the brain, leading to mental retardation. To better understand the pathophysiology, this study focuses on the identification of biomarkers related to cognitive improvement in a Slc6a8 knockout mouse model (Slc6a8-/y) engineered to mimic the clinical features of CTD patients which have low brain creatine content. Shotgun proteomics analysis of 4,035 proteins in four different brain regions; the cerebellum, cortex, hippocampus (associated with cognitive functions) and brain stem, and muscle as a control, was performed in 24 mice. Comparisons of the protein abundance in the four brain regions between DCE-treated intranasally Slc6a8-/y mice and wild type and DCE-treated Slc6a8-/y and vehicle group identified 14 biomarkers, shedding light on the mechanism of action of DCE. Integrative bioinformatics and statistical modeling identified key proteins associated with CTD, including KIF1A and PLCB1. The abundance of these proteins in the four brain regions was significantly correlated with both the object recognition and the Y-maze tests. Functional analysis confirmed their key roles and associated molecules in CTD pathogenesis. Copy rights belong to original authors. Visit the link for more info Podcast created by Paper Player, LLC

We are thrilled to share a brand new podcast that Kira Dineen co-produces, the n-Lorem “Patient Empowerment Program”. The podcast just launched so we wanted to share the pilot episode with you! This podcast focuses solely, exclusively, on the needs of nano-rare patients. These are patients that have a unique pathogenic variant (mutation) that affects only them or less than 30 people worldwide. The host of the show is Dr. Stan Crooke, who will be a familiar voice to you if you are a long time listener of DNA Today. He was on Episode 141 where we picked his brain about nano-rare patients. He is a scientist, a physician, an entrepreneur and the father of antisense technology. Dr. Crooke is responsible for more than 40 drugs in development including the famous Spinraza to treat people with spinal muscular atrophy. In this pilot episode, the host, Dr. Stan Crooke, is joined by actor and patient advocate Luke Rosen and pediatric geneticist Dr. Wendy Chung. This episode takes you on a journey to diagnosis and what it is like to live with a nano-rare disease.Luke Rosen is the board chair, KIF1A.org, vice president of patient engagement and government affairs at Ovid Therapeutics and father to Susannah. You may have seen him in Law & Order, Orange Is The New Black, Rescue Me, and Numb3rs. To learn more about KIF1A and the organization Luke and his wife, Sally, founded visit kif1a.org. You can follow Luke on Twitter @lukebrosen. Wendy Chung, M.D., Ph.D. is the Kennedy family professor of pediatrics in medicine, chief of the division of clinical genetics, department of pediatrics at Columbia University Medical Center, medical director of Columbia Genetic Counseling Graduate program and director of the clinical cancer genetics program at Columbia. Check out all the great work from Dr. Wendy Chung and her lab at Columbia by visiting wchunglab.com.The host of the show is Dr. Stanley Crooke, a scientist, a physician, an entrepreneur and the father of antisense technology. Dr. Crooke is responsible for driving the development of antisense or ASO technology, an RNA-targeted technology responsible for the commercialization of three best- and first-in class medicines and more than 40 drugs in development. In 2020, Stan formed n-Lorem to use this powerful technology to develop personalized ASO medicines for nano-rare patients (1 to 30 patients worldwide) for free, for life. On This Episode We Discuss:Susannah's journey to a diagnosisKif1A – and what a pathogenic variant (mutation) in this gene meansLiving with a nano-rare diseaseSusannah's courage and joyFinding a treatment for SusannahTo hear other episodes of the n-Lorem “Patient Empowerment Program”, subscribe on Spotify, Apple Podcast, their website, YouTube, or wherever you stream your podcasts. The host is Dr. Stan Crooke, videographer is Jon Magnuson of Mightyone Productions, producers are Jon Magnuson and Kira Dineen. Stay updated with n-Lorem on Twitter, Instagram, Facebook, Linked In, YouTube and their website, nlorem.org. Questions/inquiries can be sent to podcast@nlorem.org. Stay tuned for the next new episode of DNA Today on June 3rd! New episodes are released on Fridays. In the meantime, you can binge over 185 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)HemoShear Therapeutics is a clinical stage company developing new treatments for patients with rare metabolic disorders. By partnering with fellow biopharma companies, HemoShear is accelerating their drug discovery and development programs in metabolic disorders, and also liver diseases and gout. HemoShear is currently conducting a clinical trial for a new therapy for propionic and methylmalonic Acidemia. Learn more about these conditions and the clinical trial in an upcoming episode of DNA Today! You can also visit hemoshear.com. (SPONSORED)

ONCE UPON A GENE - EPISODE 116 A Dads Fight to Survive Cancer and the Heavy Burdens of Rare Disease with Luke Rosen Luke Rosen is a dadvocate who founded the KIF1A organization to seek a cure for his daughter Susannah who was diagnosed with KIF1A. Luke shares personal details about his recent medical difficulties and opens the raw dialogue around what happens when a caregiver dies.  EPISODE HIGHLIGHTS Can you tell us about your daughter and the KIF1A diagnosis? Susannah was diagnosed at two years old with KIF1A and at the time we could only find about 15 people in the world and in literature who had the disease mutation. KIF1A is a neurodegenerative disease with no treatment or cure. We knew we had to find more kids, so my wife Sally and I started the KIF1A organization to pull a community of patients, researchers and clinicians together.  Can you share about the medical difficulties you're personally facing? About 9 months ago, I thought I had kidney stones, which I had before. I took medication, got better and then I couldn't get out of bed one day because I was in so much pain. I went in for a CAT scan and I discovered that I had perforated diverticulitis. I had surgery, experienced some complications and went home after 5 days in the hospital. When I went back for my postoperative follow up appointment, the doctor told me a lot of cancer was removed during the surgery and that I had stage 3 colon cancer. I immediately started to think of Susannah and the research I was doing for her, wondering what would happen when I died.  As a man and dad, do you identify with keeping struggles to yourself or internalizing feelings?   I understand the idea of men going it alone, dealing with things independently, but I don't handle things that way. I always go to my father because he makes me a better father through his advice and guidance. My rocks to lean on are my father, my brother and my wife Sally and without them, I couldn't deal with everything myself. I think it's important to check in with yourself and remind those you love to check in with you too. What would you share with other parents who can relate to your story? For parents of rare disease kids, plan ahead and find a focused community so that if a storm does hit, the team of people around you can keep seeking treatment for your child without you. If you do that, you can relax a little, survive and enjoy the time you have left knowing the work will forge ahead.  LINKS & RESOURCES MENTIONED KIF1A Website https://www.kif1a.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/

One of the many layers of grief experienced by some parents of kids with special needs is tied to the trauma experienced either at birth or at the time of diagnosis if it comes later. Today's guest shares her traumatic story of receiving her daughter's rare diagnosis of KIF1A when she was 18 months old. Shannon Dennis is the mom to six-year-old Sadie and three-year-old Weston. Shannon talks with us about the layers of Sadie's rare diagnosis, coupled with a newly received autism diagnosis. She also shares what it means to navigate three-year-old Weston's delays and developmental needs. And she has a message for medical professionals on how to/not to talk with families when delivering hard news. Thank you for listening as we discuss why the approach and words of medical professionals matters to the mental health of parents receiving a diagnosis for their child. Host, Lara Kitts Leave me a voice message https://anchor.fm/larakitts Website and Flight Club https://www.larakitts.com/ Facebook https://www.facebook.com/larakittsllc Instagram https://www.instagram.com/lara.kitts/?hl=en --- Send in a voice message: https://anchor.fm/larakitts/message

User reviews and social media can be used to affect change in business and society.  It gets out of hand when users take advantage of the power that is in their hands.  Listen as the dudes discuss Social Media and this new thing called Bluetooth. Check out We Need a Mouse for a positive use of social media by our friend Luke Rosen and KIF1A.

User reviews and social media can be used to affect change in business and society.  It gets out of hand when users take advantage of the power that is in their hands.  Listen as the dudes discuss Social Media and this new thing called Bluetooth. Check out We Need a Mouse for a positive use of social media by our friend Luke Rosen and KIF1A.

In this episode I am joined by Charisma Freeman who has 15 years of Medical Experience and specialises in disability and elder care in her medical practice. Charisma is a mother of two and her youngest son has a rare genetic disorder, KIF1A. She is now a Caregiver Coach and teaches caregivers to navigate the medical system, find happiness and live a less stressful life. Her goal is to let caregivers know someone actually cares. "You deserve to be taken care of just as much as anyone else".You can follow Charisma on Instagram: @charismascare, Facebook: @CharismasCare and her Website: https://charismascare.com/Thank you for listening. If you found value from this episode, don't forget to leave a 5* review, take a screenshot and tag me and Charisma on Instagram @ruthlewiscosteuk @charismascareThe time is now to be proud and loud about being a caregiver!

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.09.22.308320v1?rss=1 Authors: Lam, A. J., Rao, L., Anazawa, Y., Okada, K., Chiba, K., Niwa, S., Gennerich, A., Nowakowski, D. W., McKenney, R. J. Abstract: KIF1A, a kinesin-3 family member, plays critical roles as a long-distance cargo-transporter within neurons. Over 100 known KIF1A mutations in humans result in KIF1A Associated Neurological Disease (KAND), developmental and degenerative neurological conditions for which there is no cure. A de novo missense mutation, P305L, was recently identified in several children diagnosed with KAND, but the underlying molecular basis for the disease phenotype is unknown. Interestingly, this residue is highly conserved in kinesin-family proteins, and together with adjacent conserved residues also implicated in KAND, forms an unusual 310-helical element immediately C-terminal to loop-12 (L12, also known as the K-loop in KIF1A) in the conserved kinesin motor core. In KIF1A, the disordered K-loop contains a highly charged insertion of lysines that is thought to endow the motor with a high microtubule-association rate. Here, we characterize the molecular defects of the P305L mutation in KIF1A using genetic, biochemical, and single-molecule approaches. We find the mutation negatively impacts the velocity, run-length, and force generation of the motor. However, a much more dramatic effect is observed on the microtubule-association rate of the motor, revealing that the presence of an intact K-loop is not sufficient for its function. We hypothesize that an elusive K-loop conformation, mediated by formation of a highly conserved adjacent 310-helix that is modulated via P305, is critically important for the kinesin-microtubule interaction. Importantly, we find that the function of this proline is conserved in the canonical kinesin, KIF5, revealing a fundamental principle of the kinesin motor mechanism. Copy rights belong to original authors. Visit the link for more info

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.09.03.281576v1?rss=1 Authors: Budaitis, B. G., Jariwala, S., Rao, L., Sept, D., Verhey, K., Gennerich, A. Abstract: The kinesin-3 motor KIF1A functions in neurons where its fast and superprocessive motility is thought to be critical for long-distance transport. However, little is known about the force-generating properties of kinesin-3 motors. Using optical tweezers, we demonstrate that KIF1A and its C. elegans homolog UNC-104 undergo force-dependent detachments at ~3 pN and then rapidly reattach to the microtubule to resume motion, resulting in a sawtooth pattern of clustered force generation events that is unique among the kinesin superfamily. Whereas UNC-104 motors stall before detaching, KIF1A motors do not. To examine the mechanism of KIF1A force generation, we introduced mutations linked to human neurodevelopmental disorders, V8M and Y89D, based on their location in structural elements required for force generation in kinesin-1. Molecular dynamics simulations predict that the V8M and Y89D mutations impair docking of the N-terminal ({beta}9) or C-terminal ({beta}10) portions of the neck linker, respectively, to the KIF1A motor domain. Indeed, both mutations dramatically impair force generation of KIF1A but not the motor's ability to rapidly reattach to the microtubule track. Homodimeric and heterodimeric mutant motors also display decreased velocities, run lengths, and landing rates and homodimeric Y89D motors exhibit a higher frequency of non-productive, diffusive events along the microtubule. In cells, cargo transport by the mutant motors is delayed. Our work demonstrates the importance of the neck linker in the force generation of kinesin-3 motors and advances our understanding of how mutations in the kinesin motor domain can manifest in disease. Copy rights belong to original authors. Visit the link for more info

The Story Collider is delighted to bring you an extra BONUS episode this week -- thanks to the Chan Zuckerberg Initiative, a new kind of philanthropy that’s leveraging technology to help solve some of the world’s toughest challenges. Both of the stories featured in this episode were recorded a very special show we produced in collaboration with CZI last June in Aspen, about rare medical conditions and the importance of leveraging the power of patients to accelerate research and drive progress. Part 1: Luke Rosen signs his daughter up for a research study to find out what's causing her seizures and ends up having to fight to find the answers. Part 2: After stay-at-home mom Tracy Dixon-Salazar's daughter is diagnosed with epilepsy, she enrolls in school in order to decipher what is happening. Luke Rosen and Sally Jackson founded KIF1A.ORG in 2016 following their daughter Susannah’s KIF1A diagnosis. Luke has extensive experience in rare disease stakeholder engagement, advocacy and research initiatives. Recognized by Global Genes as a 2018 RARE Champion of Hope Honoree, Luke often speaks at international events about innovation in therapeutic development, and about his family’s rare disease journey. Luke’s mission is to accelerate biotech innovation and forge efficient collaborations within the scientific and patient communities, resulting in discovery of treatment for children like Susannah. He relentlessly works to empower families affected by rare genetic diseases to play an active role in discovery, from pre-clinical research through clinical trial readiness and regulatory approval. Dr. Tracy Dixon-Salazar is a neuroscientist, geneticist, and, patient advocate. Her desire to get her Ph.D. was inspired by her daughter who developed Lennox-Gastaut Syndrome (LGS) at the age of 2. She did her Ph.D. and post-doctoral work at UC, San Diego where she studied the mechanisms of brain development and synaptic plasticity, identified genetic causes of rare disorders in children, and researched precision therapeutics in stem cell and animal models of pediatric disease. During her research tenure, and after 16 years of watching daily, unrelenting seizures in her child, she uncovered the driver of her daughter’s illness and identified a novel precision therapy that improved her child's life. Dr. Dixon-Salazar is an accomplished scientist, proven thought leader, highly sought-after speaker, and staunch advocate for genomic medicine, patient-centric research, and patient engagement.  Learn more about your ad choices. Visit megaphone.fm/adchoices

KIF1A.org founder and Ovid Therapeutics Head of patient Engagement Luke Rosen discussed the incidence of rare diseases, the rare disease his daughter is diagnosed with, and ongoing rare disease research studies.

This episode is the third in a special series recorded live at the 7th annual Global Genes RARE Patient Advocacy Summit, the largest worldwide gathering of rare disease patients, advocates, and thought leaders. When Luke Rosen’s daughter Susannah was diagnosed with a rare, neurodegenerative disease called KIF1A-associated neurological disorder (KAND) in 2016, he quickly learned there was a lack of information and resources for families like his. His desire to be there for his family and search for a treatment for KAND prompted him to leave his acting career behind and forge a new path. Two years later, as the founder of KIF1A.org and the Associate Director of Patient Engagement at Ovid Therapeutics, Luke has learned that asking for help and creating strong connections in the rare disease community are critical for navigating the challenges that arise after diagnosis.

This week we are joined by former screenwriter/actor, founder of KIF1A.org, and 2018 Rare Champion of Hope Honoree, Luke Rosen, who talks to us about the “We Need a Mouse” campaign. Luke and Kyle met at a rare disease event. When Kyle had their picture taken with his phone, Luke noticed the “2 Disabled Dudes” logo on Kyle’s cell phone case and only then recognized that Kyle was part of this podcast, which Luke listened to regularly! (Please remember to check out our merchandise page, because this shows us that it can help form connections!)   Luke was at that event because his daughter Susanna was diagnosed with a rare disease. When he spoke about his daughter, you can hear him smile even over the audio, as he explains that she is the strongest little girl there is. Of course in character and patience, but literally too: she has ridiculous upper body strength. (Unlike Sean.)   To hear Luke describe his career, he cornered the market as construction worker #1. However, his IMDB page is actually quite impressive, spanning his career. After his daughter’s diagnosis, he took a step back from his acting career, as his focus had changed.   He noticed a recurring and foundational question when it came to asking about researching his daughter’s rare disease. “Is there a mouse model?” Based on the constant dead end of that question, Luke and his wife began the “We Need a Mouse” campaign, which brought up the reality of rare conditions needing more research, by utilizing a cute phrase that has been shared by tens of thousands of people, including children, songwriters, and even puppets. https://youtu.be/CARSxwtGKvo https://youtu.be/WjinWaS2lMs On August 22, Luke and his wife are excited to perform in a play called Love Letters.  It’s a Pulitzer Prize winning play which will take place at the Roy and Diana Vagelos Education Center at Columbia University benefiting formance support the treatment program within the Center for Rare Pediatric Genetic Diseases at Columbia University Medical Center --. To find out more and get tickets click here.   Thanks for your leadership, Luke!

048 - Rare Disease Advocate Luke Rosen, KIF1A.org