🧬 Our most recent Editor's Choice article by Andrés D. Klein et al. report genomic modifiers of neurological resilience to #NiemannPick type C disease, a lysosomal storage disorder
➡️ doi.org/10.1002/1873-3468.70091
#Mitochondria #Biomarkers
🔔 Issue 18 of FEBS Letters features articles on #photoreceptors, #immunology, and more, including:
👁️ Perspective: cGMP and cAMP systems in #RetinitisPigmentosa
🧬 In a Nutshell: #mRNA metabolism in immune cells
🫧 Editor's Choice: Genomic modifiers of #NiemannPick severity
➡️ bit.ly/4mIaSQE
Niemann-Pick type C (#NPC) disease is a lysosomal storage disorder. In a new article published in FEBS Letters, Andrés D. Klein et al. report genomic modifiers of neurological resilience in an NPC family.
Read it here ➡️ shorturl.at/LHifM
#NiemannPick #Mitochondria #Biomarkers
Dear friends, Most of you know, some of you might not, that I have Niemann Pick B disease (or ASMD), a rare genetic progressive disease. From 2016 I participated in an experimental drug trial for the only treatment available. Friends died waiting for it. Participating in the trial meant giving up elements of my body and freedom to 25% of those years in hospital. But ultimately it meant halting and reversing the progression disease to a point where I could function and thrive on a daily basis, live & breathe without pain, put an end to hospital stays with mystery infections and undoubtedly meant the extension of my lifespan. It meant I could help others better, build friendships, experience things I never thought I'd be able to. Now NICE have determined that despite their own assessment confirming that it works, all this is not enough, and have denied access to the treatment on the NHS -the only treatment- whilst Scotland, the EU, and global centres have all approved. The reason is that with only 36 of us in the UK, it's too expensive for the number of people who'll benefit. It's weird to feel like you're having have your life quantified and a price put on your head, even though I know it's not that simple. What would you do with 30 extra years, how much would they be worth? I don't often enough ask for help to be honest as a person who's needed a lot of it. Discussions have to reopened before a cut off date of August 1st, so we urgently need to signal boost, and therefore I'm asking if friends and loved ones would be able to; -Tag or write to your MP to challenge this decision on this post; https://www.facebook.com/NiemannPickUK/posts/pfbid07Cg1YBtfn4UpiV2sEnNGNYtmkvHHFfQ9rYhUUXU18hk419vQo4CWvhRHAkijbKprl -Share info about this on your channels with #LifeIsRare and tagging Niemann-Pick UK / @niemannpickuk with a bit of context to get others to do the same. The full decision info from NICE is also here if anyone's interested; https://www.nice.org.uk/guidance/hst32
A friend is asking to share this with UK people! Please write to your MPs about this issue!
www.facebook.com/NiemannPickU...
www.nice.org.uk/guidance/hst32
www.npuk.org/npuk-respond...
#LifeIsRare #NiemannPick
The team, led by Dr Radha Desai and Dr Raffaele Pastore, focused on the mechanism of the #GeneticDisorder #NiemannPick type C (NPC): this rare autosomal condition stems from mutations in the genes #NPC1 or #NPC2, and leads to the accumulation of #lipids in the cellular #organelles #lysosomes.
Following the proposal of new gene therapy for Niemann-Pick A disease @ScienceTM, here we have the brand-new paper from Ledesma´s lab in @emboreports unveiling a potential therapeutic target for Niemann-Pick disease type C. Congratulations! #NiemannPick
bit.ly/2AJ3Je4
Following the proposal of new gene therapy for Niemann-Pick A disease @ScienceTM, here we have the brand-new paper from Ledesma´s lab in @emboreports unveiling a potential therapeutic target for Niemann-Pick disease type C. Congratulations! #NiemannPick
bit.ly/2AJ3Je4
Sobre #EnfermedadesRaras
Lectura Tesis Doctoral #CBMSO
🔊 Viernes 24 MAYO, 11:00 h
👉 "El Sistema Endocannabinoide en la patología y #terapia de la Enfermedad de #NiemannPick Tipo A"
Con Adrián Bartoll Andrés (Dir. María Dolores Ledesma)
En Salón de Actos @CIAL_CSIC_UAM
Sobre #EnfermedadesRaras
Lectura Tesis Doctoral #CBMSO
🔊 Viernes 24 MAYO, 11:00 h
👉 "El Sistema Endocannabinoide en la patología y #terapia de la Enfermedad de #NiemannPick Tipo A"
Con Adrián Bartoll Andrés (Dir. María Dolores Ledesma)
En Salón de Actos @CIAL_CSIC_UAM
