Podcasts about lhon

In today's episode, host Dr. Amanda Redfern invites Dr. Nancy Newman to share updates in the treatment of Leber hereditary optic neuropathy (LHON), covering several clinical trials underway that involve idebenone and gene therapy.  For all episodes or to claim CME credit for selected episodes, visit www.aao.org/podcasts.

In part two of this four-part series, Dr. Justin Abbatemarco and Dr. Nancy Newman discuss current treatment options for Leber hereditary optic neuropathy (LHON). Show reference:   https://index.mirasmart.com/AAN2025/PDFfiles/AAN2025-002206.html   

In part two of this four-part series, Dr. Justin Abbatemarco and Dr. Nancy Newman discuss current treatment options for Leber hereditary optic neuropathy (LHON). Show reference:   https://index.mirasmart.com/AAN2025/PDFfiles/AAN2025-002206.html  

In part one of this four-part series, Dr. Justin Abbatemarco and Dr. Nancy Newman discuss how Leber hereditary optic neuropathy (LHON) typically presents and outline the steps for diagnosing LHON in a clinical setting. Show reference:  https://index.mirasmart.com/AAN2025/PDFfiles/AAN2025-002206.html 

Malik Thomas hat in kurzer Zeit drei schwere Diagnosen verarbeiten müssen – und ist trotzdem ein aufgeschlossener, lebensfroher, positiver junger Mann. Wie schafft man es, in so einer Situation positiv zu bleiben?

Adam Morse is the world's first award-winning blind filmmaker. Adam lost most of his eyesight at the age of 19 when he was diagnosed with an incurable mitochondrial disease called LHON. Since then, Adam has gone against all odds to break barriers in the entertainment business by becoming an industry trailblazer for other differently-abled artists. Adam feeds off his peripheral vision as well as his high sensitivity to people's energies that help him direct talent and produce award-winning films. This feature is published in 'The Envision Edition' of AwareNow Magazine: awarenowmagazine.com Featuring: Adam Morse Interviewed by: Allié McGuire Music by: Ardie Son Produced by: AwareNow Media --- Support this podcast: https://podcasters.spotify.com/pod/show/awarenow/support

Phase II trial for LHON found no significant changes in BCVA after topical elamipretide, post-hoc analysis showed improvements in central visual field. Single-nucleotide and rare coding variants in over 30 genes were associated with primary angle-closure (PAC) disease. Higher IOP variability and range is associated with faster rate of GCC thinning, suggesting that IOP variations may independently cause macular changes. Higher levels of saccharin were found in well-controlled AMD patients compared to those with chronically active choroidal neovascularization (CNV).

Varmt välkomna till ett exklusivt liveavsnitt av OptikerPodden med mig, Jonas Upphagen. Även denna månad kommer en LIVE-inspelning från Optikmässan 2024 på STOCKHOLM WATERFRONT CONGRESS CENTRE! I månadens avsnitt, som blir det tredje och sista liveavsnittet från Optikmässan 2024, möter vi Johan Hedström från Karolinska Institutet. Här kommer vi ta del av pågående forskning i Sverige, särskilt inom Lebers heriditära optikusneuropati (LHON) som är Johans forskningsområde.

Adam Morse, a London-based British actor, writer, producer, and director, achieved the remarkable distinction of becoming the world's first blind filmmaker to win awards. Diagnosed with a rare mitochondrial disease called LHON at the age of nineteen in 2009, Adam Morse's journey has been one of defying all odds. He has emerged as a pioneering figure in the entertainment industry, particularly for differently-abled filmmakers. This recognition followed the critical acclaim of his debut feature film 'Lucid,' starring Billy Zane, which premiered on Amazon in 2020. In addition to his directorial success, Adam made waves as a "Blind Action Star" by taking on recurring roles in the Apple TV+ series 'SEE,' alongside Jason Momoa. Remarkably, he performed his own stunts on screen, showcasing his extraordinary talent and determination. Currently, Adam is actively engaged in directing various feature films and developing numerous film and TV projects through his production companies, Hollyfield Productions and Morvara Entertainment. Notably, he is also penning a self-help book that chronicles his journey of overcoming blindness and serves as an inspiring guide for readers seeking to embrace a positive mental philosophy for achieving success. This episode is brought to you by Authors Unite. Authors Unite provides you with all the resources you need to become a successful author. You can learn more about Authors Unite here: https://authorsunite.com/​​​​​​​​ Make sure to subscribe so you don't miss out on my future videos. --- Support this podcast: https://podcasters.spotify.com/pod/show/authorsunite/support

When it comes to inclusion, it is all about education.   Surrounding yourself around others that are not like yourself is going to push you to learn more about others. This education then leads to the ability to be more inclusive and helping to be more accessible to other groups.   On this show, we had the chance to talk with two amazing gentlemen, both who started their lives out with vision and are now legally blind. The things that these gentlemen are doing to “change the perception of blindness” for others is instrumental!   In this discussion, they talk about the fears that set in when it comes to inclusion and accessibility. There is fear from one side when it comes to asking. Asking if a blind individual needs help. Asking how you can support them. There is fear from the blind community when it comes to applying for jobs, getting support, etc.   We all have fears when it comes to taking steps to change AND change is necessary. Asking the questions is something the simplest place to start.   This episode is a vital episode to listen to if you are wanting to support different communities in being more inclusive and accessible and you don't know where to start. This podcast gives encouragement to just start. It can start with simply asking questions. Ask how to help, how to change, how to improve… and then let's do it! Did you know?   7 out of 10 working age people in Arizona who are blind or visually impaired are not working Estimated to be about 20K 45% of hiring managers believe there are no jobs within their organization that a person who is blind could do Changing the perception of blindness is the biggest barrier to employment and inclusion So, ask the questions to start to make the change.   We are in this together and can make the changes to help others in the blind community. We can help this community and others to feel included and have the tools to allow them the access to resources and jobs.   Arizona Industries for the Blind (AIB) is a solution provider… Solving today's complex business problems by providing quality products and value-added Business Process Outsourcing services that matter to their customers. While providing a viable option for Arizonians who are blind or visually impaired to achieve their version of the “American Dream” through dignified employment.   Their mission is to inspire individuals who are blind or visually impaired to achieve their highest goals and aspirations by creating and sustaining career opportunities while providing quality products and services.   Through collaborative partnerships with Federal, State and private sector companies they are able to provide Third Party Logistics services, Document Conversion services and quality AbilityOne products. David Steinmetz is the Community and Public Relations Manager at Arizona Industries for the Blind in Phoenix. David works to “change the perception of blindness” through his advocacy and public relations efforts.   Mr. Steinmetz serves as the Public Information Committee Chair on the Governor's Council on Blindness & Visual Impairments (GCBVI), and is a Board of Director on the Vision Rehabilitation Assistive Technology Expo and Arizona Center for the Blind & Visually Impaired. David is a graduate of Arizona State University and participated in the National Industries for the Blind Business Management Training program through the Darden School of business.   In 2008, David was the recipient of the National Industries for the Blind Milton J. Samuelson Career Achievement award. This prestigious award recognized Mr. Steinmetz for his career achievements and community service work.   Mr. Steinmetz enjoys spending time with his family, fishing and traveling across the United States. David believes that every person who is blind deserves the right to full participation in work, community and life and with the right training, right technology and right attitude it is possible. Follow AIB on LinkedIn and Facebook.   With a 70% unemployment rate in the blind community, Clusiv is helping remove barriers to employment for the blind community by revolutionizing training and services for the modern workforce.   Their eLearning platform has been built to be accessible with assistive technology that blind or visually impaired people use, and this platform holds employment skills training courses to cover technology, occupational and career skills for the modern-workforce. Clusiv works with state vocational rehabilitation agencies to provide access to its courses to people who are blind or visually impaired. They help simplify the work of vocational rehabilitation counselors through their Assessment Tool, easy enrollment process, and positive outcomes for their clients to achieve measurable skills gained.   Clusiv is here to equip the blind community for employment and impact inclusion in the modern workforce by giving graduates the skills, confidence, and insights needed to find competitive integrated employment and be an advocate for positive change in the workforce for people with disabilities. To learn more and get in touch go to https://clusiv.io/. Blake Steinecke grew up with perfect vision and at the age of 16 a condition called LHON caused him to go through severe central vision loss and become legally blind. This created many new challenges of relearning how to do school, navigating college, employment and more.   Blake has a degree in marketing from Cal State San Marcos and has worked in software sales, marketing in the mountain bike industry, accessibility testing and training, and now leads marketing for Clusiv as the Growth Manager.   Through Blake's work, he is able to connect his educational and professional background, lived experience navigating the challenges of education and employment being blind, and his passion to serve the blind community through the work he does with Clusiv.   Outside of work Blake plays blind hockey for the US Blind Hockey Team, enjoys spending time with his wife, Amanda, and making videos, some of which you can find on his YouTube channel Adapting Sight.   Connect with Blake on LinkedIn and follow Clusiv on Facebook, Twitter and Instagram. About Culture Crush Culture is not just a tag word to be thrown around. It is not something you throw in job descriptions to draw people to applying for jobs within a company.   According to Marcus Buckingham and Ashely Goodall in their book Nine Lies About Work, “Culture is the tenants of how we behave. It's like a family creed. This is how we operate and treat each other in the family.” As a growing company:    There are many resources out there for company culture but they are scattered and difficult to find. Culture is not a one size fits all, so it is important for companies to find the resources that are the right fit for growing their own company culture.    We have worked to build a hub that brings all of the resources together in one place and one community. The Culture Crush Business is the one stop shop for everything related to growing company culture.    On this podcast:   We focus on everything surrounding businesses with good company culture. We will talk with company leaders to learn about real-life experiences, tips, and best practices for creating a healthy work environment where employees are finding joy and satisfaction in their work while also striving and growing within the company. We also find the companies that offer resources to help improve company culture and showcase them on the show to share their tips and tricks for growing culture. About the Host Kindra Maples is spartan racer, past animal trainer, previous magician's assistant, and has a weakness for Oreo cookie shakes. Her journey working with people actually started working with animals as a teenager (don't worry we won't go that far back for her bio).   She worked for over 15 years in the zoo industry working with animals and the public. Her passion of working with animals shifted into working with people in education, operations and leadership roles. From there her passion of leadership and helping people develop has continued to grow.   Then came the opportunity for leading the Culture Crush Business Podcast and she jumped on it. Leadership, growth, and strong company cultures are all areas that Kindra is interested in diving into further.

Approximately 35,000 people worldwide have LHON, a genetic condition that affects the optic nerve, which sends visual information from the eye to the brain. In most cases, LHON – short for Leber's hereditary optic neuropathy – leads to severe vision loss in both eyes, usually beyond the threshold of legal blindness and mostly among young men. In this episode of Ideas to Innovation Season 2, two special guests discuss the challenges of this rare disease on patients and their families. They help explain, too, the role and work of scientific research in seeking answers.  Read more - https://clarivate.com/podcasts/ideas-to-innovation-season-two/  

We found this week's guest (final guest of Outlook 2022) through this other recent guest Kyle Kiper, both from Arkansas. This week on Outlook we're speaking with Cindy Scott-Huisman about art, creativity, and ingenuity. We discuss Cindy's journey with her son's and her own Leber's Hereditary Optic Neuropathy (LHON), Cantrell Gallery which has been in her family for half a century and the pride she has in her work there, and about how Scott-Huisman took chances on a continued happy life post LHON diagnosis. We at Outlook always like to learn, through another's self description, what they still can and do see, but we love discussing art (in all its forms) with those who also love it. To read more about Cantrell Gallery, check out their website here: https://cantrellgallery.com

Want the full episode? Check out Ep.56, or download it directly using this link: https://api.spreaker.com/v2/episodes/51388171/download.mp3You're allowed to visit the “poor me” house, but you're not allowed to move in. This requires a conscious decision to overcome and move forward.Jeremy Poincenot, professional blind golfer, joins the show to share his experience of grief from losing his sight, his decision to become a professional blind golfer, and the challenges (and benefits!) that come along with golfing without sight.KEY TOPICS- The grief process- Limiting environmental distractions- Risk assessment- Adaptation to changeCONNECT WITH USDecidedlypodcast.comInstagram: @decidedlypodcast Facebook: https://www.facebook.com/decidedlypodcastShawn's Instagram: @shawn_d_smith Sanger's Instagram: @sangersmith MAKING A FINANCIAL DECISION?At Decidedly Wealth Management, we focus on decision-making as the foundational element of success, in our effort to empower families to purposefully apply their wealth to fulfill their values and build a thriving legacy.LEARN MORE: www.decidedlywealth.comInstagram: https://www.instagram.com/decidedlywealth/Facebook: https://www.facebook.com/DecidedlyWealth/Subscribe to our newsletter for weekly decision-making tips: https://visitor.r20.constantcontact.com/manage/optin?v=001aeU_pPBHJPNJWJBdVbaci6bjGIuEJurH12xHBWDEVT_NxyCadMd7wLSZjcEZglkSjDjehuIbTHD8nABOIdV69ctfYpSzg24RCIytetBUrlIPPKgaGzjGZ8DkM0Wp1LMjbErcYUur7PbZGjeVo4gyXlz821AoJGZRJoin us every Wednesday for more strategies to DEFEAT bad decision-making - one episode at a time!MENTIONED IN THIS EPISODEThe food Jeremy had at the blindfolded dinner, by Chef Jon Bonnell: https://bonnellstexas.com/about/the-chef/CONNECT WITH JEREMY POINCENOTInstagram: @jeremypoincenotFacebook: https://www.facebook.com/JeremyPoincenotLinkedIn: https://www.linkedin.com/in/jeremypoincenot/Website: jeremypoincenot.comjeremy@jeremypoincenot.comText SEE to 55444 to join Jeremy's newsletter!At 19, Jeremy was your typical San Diego State University Sophomore. He had friends, sports, fraternity and most importantly, perfect 20/20 vision. Then it happened, no warning, no time to prepare. His life began to blur. Over the next few months, he lost central vision in his right eye, followed closely by his left. The diagnosis: a rare genetic disorder called Lebers Hereditary Optic Neuropathy (LHON), a disease that affects a mere 100 people in the U.S. each year with no treatment or cure in sight. At first, he thought losing his sight meant forfeiting his life. But he soon learned that with every challenge comes an opportunity for growth. With hard work, dedication, and his dad as his guide, a year after losing his sight he was able to compete in and win the 2010 World Blind Golf Championship in England. He's since won 2 more World & 8 National Blind Golf Championships.He continually strives to raise awareness of LHON, and along with the help of his friends, has created the C.U.R.E. Ride (Cycling Under Reduced Eyesight), an annual fundraising bike ride that's raised over $350,000 for LHON research. His goal is to raise a million. Now, he focuses his attention on inspiring people all over the world, sharing his story and encouraging others to gain perspective in their lives as an inspirational speaker, workshop facilitator, and performance coach. He has had the privilege of being featured on ABC's 20/20, CNN.com, MTV's True Life and ESPN.com and has spoken for many prestigious companies including Wells Fargo, Aflac, Honda, Kaiser Permanente, John Hancock and many more. In each presentation, the message is that life is about making choices and if you choose to have a positive outlook, resolute purpose, and a hint of humor, anything is possible.

You're allowed to visit the “poor me” house, but you're not allowed to move in. This requires a conscious decision to overcome and move forward.Jeremy Poincenot, professional blind golfer, joins the show to share his experience of grief from losing his sight, his decision to become a professional blind golfer, and the challenges (and benefits!) that come along with golfing without sight.KEY TOPICS- The grief process- Limiting environmental distractions- Risk assessment- Adaptation to changeCONNECT WITH USDecidedlypodcast.comInstagram: @decidedlypodcast Facebook: https://www.facebook.com/decidedlypodcastShawn's Instagram: @shawn_d_smith Sanger's Instagram: @sangersmith MAKING A FINANCIAL DECISION?At Decidedly Wealth Management, we focus on decision-making as the foundational element of success, in our effort to empower families to purposefully apply their wealth to fulfill their values and build a thriving legacy.LEARN MORE: www.decidedlywealth.comInstagram: https://www.instagram.com/decidedlywealth/Facebook: https://www.facebook.com/DecidedlyWealth/Subscribe to our newsletter for weekly decision-making tips: https://visitor.r20.constantcontact.com/manage/optin?v=001aeU_pPBHJPNJWJBdVbaci6bjGIuEJurH12xHBWDEVT_NxyCadMd7wLSZjcEZglkSjDjehuIbTHD8nABOIdV69ctfYpSzg24RCIytetBUrlIPPKgaGzjGZ8DkM0Wp1LMjbErcYUur7PbZGjeVo4gyXlz821AoJGZRJoin us every Wednesday for more strategies to DEFEAT bad decision-making - one episode at a time!MENTIONED IN THIS EPISODEThe food Jeremy had at the blindfolded dinner, by Chef Jon Bonnell: https://bonnellstexas.com/about/the-chef/CONNECT WITH JEREMY POINCENOTInstagram: @jeremypoincenotFacebook: https://www.facebook.com/JeremyPoincenotLinkedIn: https://www.linkedin.com/in/jeremypoincenot/Website: jeremypoincenot.comjeremy@jeremypoincenot.comText SEE to 55444 to join Jeremy's newsletter!At 19, Jeremy was your typical San Diego State University Sophomore. He had friends, sports, fraternity and most importantly, perfect 20/20 vision. Then it happened, no warning, no time to prepare. His life began to blur. Over the next few months, he lost central vision in his right eye, followed closely by his left. The diagnosis: a rare genetic disorder called Lebers Hereditary Optic Neuropathy (LHON), a disease that affects a mere 100 people in the U.S. each year with no treatment or cure in sight. At first, he thought losing his sight meant forfeiting his life. But he soon learned that with every challenge comes an opportunity for growth. With hard work, dedication, and his dad as his guide, a year after losing his sight he was able to compete in and win the 2010 World Blind Golf Championship in England. He's since won 2 more World & 8 National Blind Golf Championships.He continually strives to raise awareness of LHON, and along with the help of his friends, has created the C.U.R.E. Ride (Cycling Under Reduced Eyesight), an annual fundraising bike ride that's raised over $350,000 for LHON research. His goal is to raise a million. Now, he focuses his attention on inspiring people all over the world, sharing his story and encouraging others to gain perspective in their lives as an inspirational speaker, workshop facilitator, and performance coach. He has had the privilege of being featured on ABC's 20/20, CNN.com, MTV's True Life and ESPN.com and has spoken for many prestigious companies including Wells Fargo, Aflac, Honda, Kaiser Permanente, John Hancock and many more. In each presentation, the message is that life is about making choices and if you choose to have a positive outlook, resolute purpose, and a hint of humor, anything is possible.

Do you know how to effectively support families with Leber hereditary optic neuropathy (LHON)? Listen to our expert faculty provide tips on genetic testing and counselling. Credit available for this activity expires: 08/18/23 Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/979332?src=mkm_podcast_addon_979332

Lance Varnell shares his experience of being a landscape photographer published in Texas Parks and Wildlife, becoming a mariner, and his sudden transition to being blind in his 40s due to a genetic eye condition called Leber's Hereditary Optic Neuropathy. He shares his love of hiking and relearning Orientation & Mobility (including a conversation with Trevor Thomas), learning Braille through the Hadley Institute, and his interest in working with the Nature Conservancy. https://www.storiesofvisionloss.com/shownotes

This week we are joined by two mitochondrial experts who are very active in the rare disease community. We are focusing our conversation on a condition called Leber Hereditary Optic Neuropathy (LHON). Lissa Poincenot is a patient advocate with the United Mitochondrial Disease Foundation and she has a son that has been diagnosed with LHON. Devin Shuman (she/her) is a genetic counselor at Genetic Support Foundation who also has a nano-rare mitochondrial disorder called GUK1. Lissa received a Bachelor's degree from Princeton University, and an MBA from UCLA. Her professional career was devoted to developing and leading marketing teams at various large companies. In 2008 Lissa's oldest son, Jeremy, suddenly became legally blind at age 19 due to a rare mitochondrial disorder called Leber Hereditary Optic Neuropathy (LHON). Jeremy has become a World Blind Golf Champion and Professional Inspirational Speaker. Lissa is a passionate LHON Advocate, devoted to advancing the science, educating about the disorder, and developing a vibrant, collaborative LHON community. She resides in Carlsbad, California.Devin received her Bachelor's degree in Psychology from Smith College in Northampton, Massachusetts in 2014 and her Master's degree in Genetic Counseling from the University of California, Irvine in 2017. She currently resides in Bellevue, Washington. In addition to her role at Genetic Support Foundation, Devin currently serves on the Medical Advisory Board for the GRIN2B Foundation and volunteers as the Young Adult Coordinator for the United Mitochondrial Disease Foundation. Her prior genetic counseling roles have included working at a telehealth genetic counseling company, a high-risk maternal fetal medicine clinic, a neurodevelopmental clinic, and an autism family registry. Devin is passionate about rare disease advocacy, public speaking, and inclusive care for LGBT and disability communities. On a typical Friday night, you'll find Devin running a virtual support group for teens with mitochondrial disease – often with her Flemish giant rabbit or African grey parrot making an appearance.On This Episode We Discuss:Function of the mitochondriaGeneral symptoms that people with mitochondrial disorders experienceHow mitochondrial DNA impacts the inheritance pattern of mitochondrial conditionsHow the percentage of affected mitochondria correlates with the severity of symptomsJeremy's journey to a LHON diagnosisThe percentage of people with the pathogenic variant for LHON that experience blindnessWhy people assigned as male at birth are more likely to be affected by LHON than people assigned female at birthTreatments available and clinical trials underwayDevin's diagnostic odyssey and her unique perspective as a genetic counselor/patient advocateThe support group that Devin leads for teens with mitochondrial disordersTo learn more about mitochondrial disorders, visit the United Mitochondrial Disease Foundation, MitoAction, and the Mitochondrial Medicine Society. You can also check out Devin's Ted-Ed Mitochondrial DNA talk, read about mitochondrial donation, and watch this video about mitochondrial fission and fusion.To learn more about Leber Hereditary Optic Neuropathy specifically, visit the LHON website, and check out the LHON Facebook group. In this episode, we mentioned some of the support groups that Devin leads. If you have a mitochondrial disorder and want to connect to others in the community, check out the Facebook support groups for teens-20s and 20s-40s. Devin also runs a weekly Zoom support call for ages 16-35, you can register here.Be sure to check out FreshCrayons on Etsy for your own mitochondrial plushy pillow that Devin showed off in the video! And enter our giveaway for a mitochondrial sweatshirt on Twitter, LinkedIn, and Instagram. If you found this episode topic interesting, check out episode 170 for more info about mitochondrial disorders, specifically primary mitochondrial myopathy. Stay tuned for the next new episode of DNA Today on August 12th, 2022! New episodes are released on Fridays. In the meantime, you can binge nearly 200 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)Are you interested in the rapidly growing field of genetics and want to learn more about clinical genetics, molecular genetics, and laboratory science? Then you should check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine! By taking part in the program, you will be joining both national and international learners with the same passion for genetics. Interact directly with your Johns Hopkins instructors and fellow learners throughout the program. Applications are open now for the fall cohort which starts September 12th. (SPONSORED)

Dr. Byron Lam from the Bascom Palmer Eye Institute discusses an exciting area of ophthalmic research

Dr. Byron Lam from the Bascom Palmer Eye Institute discusses an exciting area of ophthalmic research

Do you know how you should treat patients with Leber hereditary optic neuropathy (LHON)? Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/973546?src=mkm_podcast_addon_973546

Entrevista com Vanessa Zilioli Frucchi, médica pediatra e mãe de duas meninas afetadas por uma doença rara, e Fernanda Loydi, jornalista afetada pela LHON.

I dag er det den internasjonale dagen for sjeldne diagnoser. Vi har snakket med Anne Mette som har den sjeldne øyesykdommen LHON.

I dag er det den internasjonale dagen for sjeldne diagnoser. Vi har snakket med Anne Mette som har den sjeldne øyesykdommen LHON.

Mein heutiger Gast wird mit seiner Geschichte berühren und fordert uns alle auf vor Demut ein Mal kurz auf den Boden zu schauen. Malik ist 24 Jahre alt und erkrankte vor 4 Jahre nicht nur Acne inversa und Multiple Sklerose, sondern verlor Anfang 2020 nahezu fast sein Augenlicht komplett durch die seltene Erkrankung LHON (Lebersche Hereditäre Optikus Neuopathie). Doch anders als man annehmen könnte, wird diese Folge nicht zum Mitleid auffordern, sondern ich erwarte genau das Gegenteil.denn mein Gast traf am 21.03.2020 eine Entscheidung: sein bisher wichtigster Schlüsselmoment, er entschied sich das beste Leben zu führen. Das wird kein Interview, das wird eine Lehrstunde. MAZZ AB mit Malik Thomas.

Rob experienced sudden permanent blindness at 13 due to a rare genetic disease known as ‘LHON'. Unusually, he is grateful for the lessons it taught him and gift it gave him.Rob is a qualified solicitor and mediator. Rob gained experience in commercial and corporate business including joint ventures, outsourcing, technology contracts, as well as specialising in non-contentious and contentious engineering & construction law and the area of digital transformation/process management. He has experience from both private practice law firms and in-house teams and has risen through the ranks to director level leading teams in policy, business and law.Rob deals with the commercial and legal needs of the complex ECA corporate group, deals with over 3000 organisations active in the engineering services sector, whether as designers, suppliers, installers or service and maintenance (FM).Rob is now recognised in thought leadership, he co-founded the Process Innovation Forum/Innovation Factory (ww.thePIF.org) and has been Chairs the Payment Advisory Group of the Cabinet Office and Crown Commercial Services on SME business, CIC BIM legal, procurement and payment, Build UK Payment and Contracts Groups, CBI and others on the area of digital transformation in construction law and business.He more recently emerged as a respected thought leader on digitisation of payment in construction and cash-flow systems, bringing the simple approaches of lateral problem solving from disability into the commercial world. Rob has chaired the payment sub-group of the SME Advisory panel and formed an integral part of the Construction Leadership Council's Business Models and Digital Groups tackling C-19, payment and fair practices issues within the industry.A founder of the LHON Society, a charity for those impacted by LHON (a rare genetic disease causing sudden blindness), Rob has sought to highlight ability rather than disability recently winning UKCW Role model in 2018 and CN Talent Equality, Diversity and Inclusion leaders and mentor of the year awards in 2019. Rob advocates for those who dare to be different.In this deeply inspirational and transformative interview, you'll get insight to:- Breaking free of the shackles of limitations- Pursuing professional excellence- Being no prisoner to your excuses- Stretching your thinking and perspectives- Innovations happening at the intersection of contech and law- Seeking diverse experiences- Living your own life free from titlesAnd so much more.This is a deeply inspirational episode with a person who is living proof that you are not a product of your circumstances or bound to your excuses - you can truly do anything you set your mind to.Play now to break free from your own shackles.Show notes:If you enjoyed this episode, and you've learnt something or it inspired you in some way, I'd love to hear about it and know your biggest takeaway. Take a screenshot of you listening on your device, and post it to your Instagram Stories, and tag me, @elinormoshe_ or Elinor Moshe on LinkedIn.Don't forget you can also join the Facebook community to be part of the growing family of constructors who chose exceptional futures.

Mit 16 ist Nadine an dem seltenen Gendefekt LHON erkrankt und erblindet. Doch sie hat sich nicht unterkriegen lassen und gemerkt, dass sie weiterhin fast alles ohne Hilfe schafft. In dieser Folge erzählt sie Marlon von ihren zahlreichen Hobbys und davon, wie wenig sich trotz ihrer Erblindung geändert hat. Nadine spricht aber auch von Vorurteilen, die sie immer wieder zu hören bekommt.

Dr Yu-Wai Man and colleagues review LHON, covering disease facts, diagnosis, and current and evolving treatment options. Credit available for this activity expires: [04/30/22] Earn Credit / Learning Objectives & Disclosures: https://www.medscape.org/viewarticle/949772?src=mkm_podcast_addon_949772

Tucker Dupree is a 3x Paralympian (2008, 2012, 2016) and 4-time Paralympic medalist (1 Silver & 3 Bronze) in 3 different events (50 Free, 100 Free, and 100 Back). When Tucker was a senior in high school, he was diagnosed with Leber Hereditary Optic Neuropathy (LHON), a rare disease that, in the span of just a few months, took 80% of his vision away. Prior to his diagnosis, he didn't really know what the Paralympics was all about or how it worked. Tucker is a World Champion, a highly regarded clinician with Fitter & Faster, and BP's new Community Management Advisor. Enjoy! 00:00 Intro 00:15 Destro Swim Towers 00:45 Swimnerd Live Virtual Scoreboard 01:15 Swimming Stories: You have an amazing story 01:40 Fitter & Faster 02:10 Where did it start for you? 03:00 Going 80% Blind 05:45 Were you freaking out? 07:35 How rare is LHON? 10:35 What can you see? 13:00 Evolving into a Paralympian 13:55 Elexis "Lex" Gillette 16:15 Hard to find swim meets? 18:00 Beijing 2008 22:10 Competitors, Rivalries 23:45 Blind Jokes 24:25 London 2012 30:10 Rio 2016 31:45 Being a Mentor 33:50 Inspiring Teammates 36:45 Complainers? 38:05 Working for BP 39:05 Blind Swimmer Leading a Clinic 40:50 What's your best time in the 50 Free? Connect: Find | Brett Hawke On Instagram @hawkebr on Twitter @insidewithbh On Facebook @insidewithbh Find | Tucker Dupree On LinkedIn On Instagram On Twitter Beijing 2008 Paralympic Games 4th (400 Free), 5th (100 Back & 100 Fly), 6th (50 Free & 200 IM), 7th (100 Free) London 2012 Paralympic Games Silver (100 Back), Bronze (50 Free & 100 Free), 4th (100 Fly), 5th (400 Free) Rio 2016 Paralympic Games Bronze (100 Back), 5th (50 Free), 8th (100 Fly) Subscribe & Listen: Apple Podcasts Google Spotify YouTube Produced by: SWIMNERD Supported by: Fitter & Faster --- Send in a voice message: https://anchor.fm/brett-hawke/message

My next guest Blake is breaking down all of the stereo types. Blake is legally blind and during highschool he was diagnosed with a condition called LHON also knows as Lebers Hereditary Optic Neuropathy. That was a really difficult time but it was also the start of Blakes soon to be super motivation to become an Elite athlete, play for the National Blind Hockey League, and continue to mountain bike blind. Please join us for the live stream as we get to talk with Blake. Thank you to the supporters of this channel and podcast: TASCO MTB Apparel: https://www.tasco-mtb.com/?kbr_source=kickbooster-direct&kbr_medium=kickbooster&kbr_content=link&kbr_campaign=ef6441e415%off your purchase link 7IDP MTB protection: https://7protection.com/us/Promo code SEGMENT for 15% off your purchase Spy Optic: https://www.spyoptic.com/Promo code SENDER10 for 10% off your purchase

Learn about why just because you want something doesn’t mean you like it; why Esperanto is the world’s most successful universal language; and a gene therapy injection in one eye that improved vision in both.  Just because you want something doesn't mean you like it — and that has implications for addiction by Kelsey Donk Edmonds, D. (2020, December 12). The science of addiction: Do you always like the things you want? BBC News.. https://www.bbc.com/news/stories-55221825  Berridge, K. C., & Robinson, T. E. (2016). Liking, wanting, and the incentive-sensitization theory of addiction. American Psychologist, 71(8), 670–679. https://doi.org/10.1037/amp0000059  Esperanto Is the World's Universal Language by Reuben Westmaas Some Basic Information about Esperanto -- the International Language. (2021). Esperanto.org. http://esperanto.org/us/USEJ/world/index.html  Berlin, R. L. G. (2013, September 26). Johnson: Simple, logical and doomed. The Economist; The Economist. https://www.economist.com/prospero/2013/09/26/johnson-simple-logical-and-doomed  L.L. Zamenhof | Polish linguist and physician | Britannica. (2021). In Encyclopædia Britannica. https://www.britannica.com/biography/L-L-Zamenhof  Gene therapy injection in one eye surprises scientists by improving vision in both by Cameron Duke Almeroth-Williams, T. (2020, December 10). Gene therapy injection in one eye surprises scientists by improving vision in both. University of Cambridge. https://www.cam.ac.uk/research/news/gene-therapy-injection-in-one-eye-surprises-scientists-by-improving-vision-in-both  Yu-Wai-Man, P., Newman, N. J., Carelli, V., Moster, M. L., Biousse, V., Sadun, A. A., Klopstock, T., Vignal-Clermont, C., Sergott, R. C., Rudolph, G., Morgia, C. L., Karanjia, R., Taiel, M., Blouin, L., Burguière, P., Smits, G., Chevalier, C., Masonson, H., Salermo, Y., … Sahel, J.-A. (2020). Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy. Science Translational Medicine, 12(573). https://doi.org/10.1126/scitranslmed.aaz7423  Subscribe to Curiosity Daily to learn something new every day with Cody Gough and Ashley Hamer. You can also listen to our podcast as part of your Alexa Flash Briefing; Amazon smart speakers users, click/tap “enable” here: https://www.amazon.com/Curiosity-com-Curiosity-Daily-from/dp/B07CP17DJY  See omnystudio.com/listener for privacy information.

Happy Holidays all. Join us for a brief conversation on iOS 14 screen recognition. Is it a hinderance or helpful? Meet Brian McCarthy. If you ever thought That Real Blind Tech Show Host Brian Fischler was a wackadoodle, you ain’t heard nothing yet. Brian’s good pal Brian McCarthy is low vision due to LHON. Join us for a walk through Brian McCarthy losing his vision, his success with one of the most popular ad campaigns in the past twenty years, his creation of the show Dislabeled, his night out in NYC with Jim Jeffries, hosting Laugh For Sight, running around New York City without a cane, and a ton of other nonsense. You can learn more about Brian McCarthy at www.lipsweat.com, and Dislabeled at www.dislabled.tv. Follow him on Twitter at @BrianPMcCarthy. We end our year with a discussion of Mac OS Big Sur, as Brian is now running it on his secondary device. We discuss a serious issue with mail if the control key is not shutting up VoiceOver for you, and how to fix it. The other minor issues with Big Sur, and end with what we are looking forward to in 2021.   You can reach out to That Real Blind Tech Show at ThatRealBlindTechShow@gmail.com, join the conversation on Facebook in our Group That Real Blind Tech Show, follow us on Twitter at @BlindTechShow, or leave us a message by calling 929-367-1005.

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.09.04.282830v1?rss=1 Authors: Evangelisti, S., La Morgia, C., Testa, C., Manners, D. N., Brizi, L., Bianchini, C., Carbonelli, M., Barboni, P., Sadun, A. A., Tonon, C., Carelli, V., Vandewalle, G., Lodi, R. Abstract: Melanopsin retinal ganglion cells (mRGCs) are intrinsically photosensitive photoreceptors contributing to visual and non-image-forming functions of the eye. Isolating mRGC roles in humans is challenging, therefore mRGCs functions remains to be fully characterized. We explored mRGCs contribution to light-driven visual and cognitive brain responses in Leber's Hereditary Optic Neuropathy (LHON), given mRGC relative sparing in LHON. Twelve patients and twelve matched healthy controls (HC) participated in an fMRI protocol including visual and visual cognitive paradigms under blue (480nm) and red light (620nm). Higher occipital activation was found in response to sustained blue vs. red stimulation in LHON vs. HC. Similarly, brain responses to the executive task were larger under blue vs. red light in LHON over lateral prefrontal cortex. These findings are in line with LHON mRGCs relative sparing and support mRGCs contribution to non-visual and visual functions in humans, with potential implication for visual rehabilitation in optic neuropathy patients. Copy rights belong to original authors. Visit the link for more info

Merritt Mattheson, candidate for City of Stuart Commission, Group 3AboutMartin County native. Proud father and husband. Devoted civil servant.BiographyI am a proud life-long resident of Martin County and a multi-generational Florida native. My parents relocated to Martin County from Miami, following in the footsteps of my great-uncle Bill Matheson, who had settled in Palm City in the 1950s. I was born at Martin Memorial Hospital and raised in Palm City. I was privileged with an upbringing that allowed me to enjoy the aspects of this community that make it special: natural beauty, good schools, quiet neighborhoods and close-knit communities.My first great love was the sea. I have been an avid fisherman for as long as I can remember. As a young teenager, I also began scuba diving and surfing. Growing up along the South Fork of the St. Lucie River, I've witnessed first-hand the devastation caused by the discharges from Lake Okeechobee. My love of nature was not isolated to aquatic ecosystems. I spent many days exploring, camping, fishing and hunting in the wild hammocks, savannas, creeks and wetlands of western Martin County and beyond.I attended the University of Colorado Boulder where I studied Environmental Biology. In 2003, I earned my captain's license. After college, I settled in Maui, Hawaii, where I worked as a charter fishing boat captain. It was during this time that I discovered I have LHON, a rare hereditary condition that degenerates my optic nerve. There is no treatment for the condition. Within a year, I became legally blind.I moved to the City of Stuart in 2010 with my wife, Chelsey, whose own family ties to Martin County stretch back more than 100 years. Since returning to Florida, I have worked for West Marine in Stuart as the Fishing Manager. I have also purchased and managed investment properties. I currently serve on the LPA advisory board for the city. Though my disability prevents me from continuing to run charter fishing boats, I am still able to do some work as a saltwater fishing guide for friends and clients who own their own boats. My wife and I are now raising a daughter and a Jack Russell Terrier. We have another child expected at the end of August.Though I left Martin County in my early twenties to gain an education and explore the world, I was drawn back here when I knew it was time to settle down and raise a family. My roots here are deep. I am grateful to the generations before me who worked hard to preserve the small-town charm of Stuart, and I am ready to make my own contribution to ensure that my children are able to enjoy and appreciate it the way I did.https://www.facebook.com/mathesonforstuart/

On this special solo episode of the Japan Station podcast, I discuss being visually impaired and how my decision to study abroad in Japan helped me realize that I wasn't limited by the loss of my eyesight. About Tony Vega Tony Vega is a writer, editor, and podcaster. He has lived in Japan as both a student and participant of the JET Programme. He possesses an M.A. in Japanese language and linguistics from the University of Hawaii at Manoa. Tony is the creator of Japankyo.com and he produces both the Japan Station Ichimon Japan podcasts. Tony enjoys pizza, sushi, burritos, puns, and overanalyzing absurd things. Topics Discussed The process of becoming legally blind due to Leber's hereditary optic neuropathy (LHON) Deciding to study Japanese in college The first time Tony went to Japan Difficulties adjusting to life with low vision Deciding to study abroad at Kansai Gaidai University in Hirakata City, Osaka Tony's decision to study Japanese every single day before leaving to study abroad How studying abroad in Japan made Tony realize that he was capable of much more than he thought he was And much more! Special Thanks Opening/Closing song: Oedo Controller (大江戸コントローラー) by Yunomi featuring Toriena (Used with permission from Yunomi) To listen to more of Yunomi's music, check out his Soundcloud page or YouTube channel. Japan Station cover art: Provided by Erik R. Images: Courtesy of Susan Spann Follow Japankyo on Social Media Facebook (@JapankyoNews) Twitter (@JapankyoNews) Support Japan Station Aside from subscribing to Japan Station, the next best thing you can do to support the show, is using the Amazon affiliate link below to do your shopping. Best of all, it doesn't cost you anything extra. Use this link to shop on Amazon and support Japan Station    

714: When was the last time you hit balls at range with your eyes closed? It’s an amazing opportunity to learn more about what some coaches call “awareness”, being able to truly feel your body as you swing the golf club. Now do that out on the course. That’s what it’s like for blind golfers! In this episode, Golf Smarter listener, Bob Banks, who has been legally blind for four years, and host Fred Greene play 18 holes at Hiddenbrooke Golf Course in Vallejo, CA. You’ll hear how Bob and Bob’s friend/guide/coach Jerry, navigate driving, chipping, and putting through a challenging course. You’ll also learn more about how Bob lost his vision, his initial reaction, and how he learned about and became part of the Blind Golf community. Bob challenges us all to close our eyes the next time we're practicing and see what we learn. For more, check out usblindgolf.com Check out the video from this round and watch how Bob and and his friend/coach/guide Jerry work together so that Bob can play blind golf successfully on our GolfSmarterTV channel at https://youtu.be/QdBK3lIs0aU Our next giveaway is a Full Access Pass to the Gravity Golf Challenge, courtesy of GravityGolf.com, valued at $500! Enter at GolfSmarter.com/giveaway2019. Deadline for entry is December 1, 2019 Midnight PDT.  This week on Golf Smarter Mulligans, published each Friday, we speak to author/English Professor/golf coach Jame Ragonnet on his book “Golf's Three Noble”. Subscribe to Golf Smarter Mulligans for free wherever you listen to your favorite podcasts or at YouTube.com/GolfSmarterTV.Golf Smarter Mulligans is supported by autoslash.com who can help you find the lowest rate possible for your next car rental. Golf Smarter Mulligans is also brought to you by TwoGuysWithGolfBalls.com where you can buy premium used golf balls, with little to no discernible difference, and at a fraction of the cost of new balls. Use “golfsmarter” at checkout to get an additional 10% off every order, every time! Some restrictions apply.

Jeremy Poincenot is a world champion blind golfer and an inspirational speaker whose impacting people all over the world. Working with organizations such as Wells Fargo, Kaiser Permanente, Aflac, Honda and others, Jeremy teaches people how using interdependence can make a massive impact on your life. In this episode we discuss how at age 19, Jeremy went through being diagnosed with Lebers Hereditary Optic Neuropathy (LHON), a disease that affects a mere 100 people in the U.S. each year with no treatment or cure in sight. We discuss how others can get through tragic events in their life, how one can spread a message to the world that they feel can impact the world and much more.    For more information on Jeremy Poincenot check out https://www.jeremypoincenot.com. If you want to participate in his annual fundraiser or get more information check out his "My Story" page on his website, also found here: https://www.jeremypoincenot.com/my-story.        Lebers Hereditary Optic Neuropathy (LHON), a disease that affects a mere 100 people in the U.S. each year with no treatment or cure in sight

This week we’re visited by local visually impaired artist, advocate, motivational speaker and self-proclaimed Renaissance Man, Richard Harlow. Richard tells us how he was first diagnosed with the rare condition LHON, how it impacted his life, and how it eventually saw him begin a life of advocacy that resulted in the city of Nanaimo adopting a new Accessibility icon. Show Notes Delta Air Lines bans young puppies and kittens as support animalshttps://www.cnn.com/2018/12/12/us/delta-airlines-bans-support-animals-trnd/index.htmlA look at TTC accessibility through the eyes of a rider who uses two caneshttps://www.thestar.com/news/city_hall/2019/03/10/a-look-at-ttc-accessibility-through-the-eyes-of-a-rider-who-uses-two-canes.htmlRichard Harlow Interview from Times Colonisthttps://www.timescolonist.com/how-artist-richard-harlow-changed-his-style-after-going-blind-1.22756732 AT Banter is brought to you by Canadian Assistive Technology, providing sales and training in Assistive Technology and Accessibility with over 30 years of knowledge and experience. Visit them online at www.canasstech.com or call toll-free 1-844-795-8324. Need repairs on your device? Chaos Technical Services offers service and support on almost any piece of Assistive Technology, while also providing parts and batteries. Visit them online at www.chaostechnicalservices.com or call 778-847-6840.

Espero que pueda resultar de vuestro interés.Ofrecer unos contenidos distintos, algo personales en algunos momentos.

Maria Johnson a.k.a. Girl Gone Blind is a mom, a blogger, radio host, fitness instructor, health and wellness advocate, podcaster, and most of all... Maria shares her experiences and assists others going through the turnstiles entering the journey of Blindness. From learning about her LHON eye condition, losing most of her usable sight, struggling with the acceptance of her vision loss and continuing her fitness instruction classes, Maria talks about it all and then some.  Join Maria Johnson along with Jeff Thompson of Blind Abilities as they travel the journey of a Girl Gone Blind. You can find Maria on Twitter @Girl_Gone_Blind Check out her blog at www.GirlGoneBlind.com and find Maria Johnson a.k.a. Girl Gone Blind on RNIB Connect Radio  A big Thank You to Chee Chau for some of the beautiful music used throughout this production.   Thank you for listening. You can follow us on Twitter @BlindAbilities On the web at www.BlindAbilities.com Send us an email Get the Free Blind Abilities App on the App Store.

Podcast

[intro music]   Host – Dan Keller Hello, and welcome to Episode Eight of Multiple Sclerosis Discovery, the podcast of the MS Discovery Forum. I’m your host, Dan Keller.   This week’s podcast features an interview with researcher, Wendy Macklin, whose team studies myelination and demyelination in zebrafish and mouse animal models. But to begin, here is a brief summary of some of the topics we’ve been covering on the MS Discovery Forum at msdiscovery.org.   As listeners may already be aware, a new study suggested that infection with HIV is associated with a lower risk of developing MS. Researchers looked at a large sample of hospital records and found that individuals infected with HIV had a 62% lower risk of MS than HIV-negative individuals who were matched for age, gender, region, and socioeconomic status. The researchers think that antiretroviral drugs might be causing the protective effect, though it’s possible the infection with HIV itself somehow protects against developing MS. Antiretroviral drugs may attack some ancient viral genes thought to trigger MS and other autoimmune diseases.   Science journalist, Ricki Lewis, covered a study of patients with a rare mitochondrial eye disease that may be entwined with MS. The disease called Leber hereditary optic neuropathy, LHON, is a degenerative eye disease that causes progressive loss of vision. But in some patients, the disease can also cause MS-like symptoms. Researchers performed MRIs on patients with LHON and found that their white matter lesions resembled MS, possibly providing an early snapshot of MS. The similarity of the diseases has also led some researchers to question whether they share a pathogenesis, but the rarity of LHON and MS developing in the same person is shifting the opinion towards calling any comorbidity of the diseases just a coincidence.   In a recent post in MS Patient, Ph.D., blogger Griselda Zuccarino-Catania followed up her feature on DMTs in pregnancy with her own personal debate on whether to continue her DMT while breastfeeding. In her post, she profiles researcher Thomas Hale, who studies drug concentrations in breast milk. He’s found that concentrations in a woman’s blood plasma are associated with the concentrations in her breast milk. These levels can be used to assess the risk any drug might have to infants.   [transition music]   Now for the interview. Science journalist, Carol Morton, met with Wendy Macklin at the Glia Meeting in Cold Spring Harbor, New York. She and Dr. Macklin discussed new research in myelination using the mTOR cell apoptosis pathway, the feasibility of a remyelinating drug, and her work with an unusual animal model for modeling MS – the zebrafish. [Note: the word "apoptosis" is incorrect and should not have appeared in the introduction to Dr. Macklin's interview. While it's impractical to remove it from the already-released audio podcast, we are correcting the error here, in this transcript.--Editor]   Interviewer – Carol Morton There are not that many MS researchers who work with that.   Interviewee – Wendy Macklin No, and there are times when you have to suggest that there is relevance to multiple sclerosis for looking at little two-inch fish. But they do. They provide really important information because you're not even looking at the two-inch fish; you're looking at the little, teeny tiny larva and embryos, but they are optically clear. So some of the new technologies use these green fluorescent proteins that originally were identified in jellyfish that make the jellyfish fluoresce at night. If you shine a certain wavelength of light, they turn green. And so, you can do that in a live animal, in a live fish; and in fact, some of the stuff that we were hearing today was even doing it in the mouse, but there you have to actually be able to get the microscope so you can actually see into the mouse brain. But in the fish, everything is transparent; so you can see it no matter what. So you just put the fish in a microscope environment, and you can watch cells, and you can take movies of cells moving, cells trying to make new processes, and cells wrapping around axons. And so you can watch this in realtime.   MSDF You recently had a really interesting paper. Do you want to talk about...?   Dr. Macklin So that paper came out of a project that we'd started a long time ago that was focused on understanding how one particular protein, Akt – which does many, many things in cells – regulates oligodendrocytes, which are the cells that make myelin. And it does many things; we thought it was involving in a survival element; and so we thought maybe we could find things that would help the oligodendrocytes survive immune attacks, survive things better and not die. And so we created a mouse where we overexpressed that protein in the oligodendrocyte. And instead, actually, what happened it did not change the survival of the cells at all; it changed how much myelin they made. And in fact, it drove the cells to make too much myelin. And in fact, if that becomes pathologic, the animals actually die when they're about a year old because they have too much myelin, and it's filling up their brain. So it's a dramatic change. And so, then we began to drill down to see well what is it about that molecule because it does many things? This particular hypermyelination syndrome was really feeding down through the mTOR pathway. And so, if you knockout parts of the mTOR pathway in the oligodendrocytes, the spinal cord is far worse and makes much less myelin and does not really generate the right kind of myelin. Whereas other parts of the brain are doing just fine or seem to be doing just fine. So one of the questions is why is this anymore damaged by this change in the cell? So the oligodendrocyte is identifying an axon and then wrapping around and making myelin, and that's what's the key question in MS is how to make sure that cell continues to make myelin. And we now have a system where we have changed the axons in some way – using again this mTOR pathway – and those axons don't encourage the oligodendrocyte to make myelin. So now we have a system where we can go in and try and figure out well what's fundamentally changed about those axons that they say don't myelinate me; whereas the oligodendrocytes in other parts of the nervous system are doing just fine making myelin.   MSDF Now after the session this morning, I'm actually wondering if myelin making is now the goal, or has the goal…is the goal changing as people find out more for for therapeutic?   Dr. Macklin I would say we don't know. So if you look in MS tissue, you see that where there's demyelination there still are oligodendrocyte progenitor cells, and there still are the cells that are trying to make myelin, the premyelinating cells. There's small numbers relative to the normal tissue, and they don't make myelin. So is that because we don't have enough cells? Is that because they have an inhibitor that's preventing them in that environment, or because they're not getting some positive signal? So I would still say the question of understanding how myelination is regulated has huge clinical relevance.   MSDF Recently you went to another meeting that was really focused on myelination as a therapeutic problem, a therapeutic target.   Dr. Macklin Right.   MSDF In addition to knowing what's happening with the cells and the molecules in the environment in the brain, there's some other issues in getting myelin-making drugs through clinical testing.   Dr. Macklin Yeah. In contrast to many of the other neurologic diseases, there are disease-modifying drugs out there for MS, but they almost all – at the current time – hit the immune component, which is absolutely essential and is definitely important. But even if you got rid of 100% of the immune component of MS, you still would have damage in the brain. And there is a good deal of evidence that the myelin not only does it allow better conduction of these axons, but it also provides all sorts of support. Metabolic it's providing energy to the axons; it provides a great many things to the axons that help the axons survive, which are part of the neurons. So if there is really still serious damage, you want to figure out some way to repair that. And so there are a couple of clinical trials actually going on right now that are looking at drugs that might enhance the remyelination in patients. And so, some of the things that we're doing – looking both in the fish as well as in the mouse – are pathways that could be targeted for therapeutics that might help you to enhance myelination. One of the big themes that came out of that meeting last month was that if you had the perfect therapy for remyelination – you know that it works well in the zebrafish; you know it works well in the mouse – you can get other models that allow you to look at remyelination in a number of different contexts. You have to get those to patients and see if they actually do create new myelin. In patients, the problem is that the current imaging modalities for patients, MRI, is measuring water. And where you have myelin there is less water because of the way myelin works. It's hard to know exactly why there's less water where you're looking in MRI. So there's a variety of different approaches. There's new techniques with MRI. There's even some new PET techniques – which are clearly experimental at this stage – to try to really be able to show new myelin. And part of that meeting was really if we had the perfect therapy how would we prove it in a clinical trial? You can show clinical improvement, which is great, but is that because of you've changed the immune system, because you've changed other aspects of the patient, or you really have new myelin? That's currently still a really hard problem in terms of the the clinical end of things to really be able to prove that. Nevertheless, people are developing these kinds of drugs, and as I said a couple of them are in clinical trial right now.   MSDF Looking at your animal models, the ways that you have evaluating more or less myelin are ways are ways that can't be translated to people…   Dr. Macklin Well some of them are. I mean that's really where some of this work is going is trying to figure out how to use either MRI or PET imaging of live animals, and then you can go and test. And you think you have a signal that tells you you have increased myelin then you can actually go in and check and see – at the tissue level – is there really new myelin? So you can validate some of these imaging modalities that way. But you you will always have to go eventually to the patients and be able to really demonstrate that that particular way of imaging the tissue proved in in an animal model really does mean something in the patient as well.   MSDF I've seen those little mouse MRIs.   Dr. Macklin They're so adorable.   MSDF They are.   Dr. Macklin And they definitely show you something. They definitely show you something. And some of the PET work…the PET work is more specifically directed to myelin so you can have a PET ligand, which shows up in PET imaging, that just literally binds only to myelin or binds predominantly to myelin, and it will go into the tissue, and it will bind there. And that actually gives you some fairly discrete imaging that because you know it's a molecule that only binds to myelin when you see that signal in a particular place you know that that is myelin. And if you see more of a signal, then you know that that's more myelin. So those are really interesting approaches, and they're very much more directed to being able to specifically say that's myelin that you're seeing. But in the clinical context, those kinds of approaches are being worked on, but they're still very early stages. In terms of trying to set up a clinical trial, those kinds of approaches may be the way you'll go eventually, but today you couldn't do it that way.   MSDF Anything else that I should be asking, or that you wanted to add that would in in this context that would be interesting?   Dr. Macklin Well I mean I think at this stage  there are other issues of the question of so much of the work is done on myelination, which is crucial during development, and it's absolutely essential. And problems with normal myelination during development result in really serious brain problems. There are ways to study developmental myelination: in the fish, in the mouse, in a variety of different ways. And then there's a series of adult ways of getting rid of myelin to look at remyelination. And so, the overwhelming perspective has always been well whatever you learn from the myelination during development would be exactly what you would need to know about for the remyelination in the adult. And much of that's true. I mean you have to get the cells, you have to get the cells to proliferate, you have to get them to the right place. But there are now data that suggest that there are definite differences in the way the adult cells are responding to their overall environment, which is totally different than from the developmental environment. The cells may be very similar, but in the developing environment the many things are changing all of the time – the nerve cells, all of the different cells are changing, the brain is getting bigger – there's all sorts of changes. And in a damaged adult brain, you see certain differences that do seem to be real in terms of the way the signaling pathways are that would regulate how the myelin is generated in the remyelinating context versus in the developmental context. So we do need to go back and forth even the ones of us who work on the fish. We need to be able to look and see some adult context that's a demyelination/remyelination context that those same things that you're seeing developmentally are important in the adult.   MSDF That is interesting because I have heard people say well you recapitulate, you want to recapitulate the…   Dr. Macklin Yes, and it does. It…   MSDF …the developmental pattern.   Dr. Macklin Right.   MSDF So that's interesting in that. Okay, well that's fabulous. Well, thank you for taking the time to do this.   Dr. Macklin Okay. Certainly.   MSDF It was wonderful.   Dr. Macklin I hope it's useful for you.   MSDF Okay, great.   [transition music]   Thank you for listening to Episode Eight of Multiple Sclerosis Discovery. This podcast was produced by the MS Discovery Forum, MSDF, the premier source of independent news and information on MS research. MSDF’s executive editor is Robert Finn. Msdiscovery.org is part of the non-profit Accelerated Cure Project for Multiple Sclerosis. Robert McBurney is our President and CEO, and Hollie Schmidt is vice president of scientific operations.   Msdiscovery.org aims to focus attention on what is known and not yet known about the causes of MS and related conditions, their pathological mechanisms, and potential ways to intervene. By communicating this information in a way that builds bridges among different disciplines, we hope to open new routes toward significant clinical advances.   We’re interested in your opinions. Please join the discussion on one of our online forums or send comments, criticisms, and suggestions to editor@msdiscovery.org.   [outro music]

Background: Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease that typically causes bilateral blindness in young men. Here we describe the clinical and molecular characteristics of 20 patients with disease onset after the age of 50 years (late onset-LHON). Methods: From a cohort of 251 affected and 277 unaffected LHON carriers, we identified 20 patients with onset of visual loss after the age of 50 years. Using structured questionnaires, data including basic demographic details, age of onset, progression of visual loss and severity as well as exposure to possible environmental triggers including alcohol, smoking and illicit drugs were retrospectively collected. Groups were compared using the Mann-Whitney-U-Test for two independent groups of sampled data. Results: The proportion of late onset-LHON in our cohort was 8% (20 patients, 15 males, 5 females). The mtDNA mutations m. 11778G  > A and m. 3460G  > A were found in 16 and 4 patients, respectively. Among 89 asymptomatic carriers above the age of 50 years (28 males, 61 females), the mtDNA mutations m. 11778G > A, m. 3460G  > A and m. 14484 T  > C were found in 60, 12 and 17 carriers, respectively. Late onset-LHON patients had significantly higher mean cumulative tobacco and alcohol consumption compared with unaffected carriers. However, there was no significant difference between late onset-and typical LHON patients with regard to daily tobacco and weekly alcohol consumption before disease onset. Conclusion: As already shown for typical LHON, alcohol consumption and smoking are important trigger factors also for the late manifestation. LHON should be considered in the differential diagnosis of subacute blindness even in older patients.