NATA - Nucleic Acid Therapy Accelerator’s Post

🌍 Rare Disease Day 2024: Unveiling the Power of LNP Technology 🌍 Today, on Rare Disease Day, we stand in solidarity with the millions affected by rare diseases worldwide. While these conditions are termed 'rare', the numbers tell a different story. Affecting 5% of the global population, rare diseases touch the lives of many around us - including members of our own team, families and friends. 🔬 The Role of LNP Technology in Rare Diseases At NanoVation Therapeutics™ (NTx), we're harnessing lipid nanoparticle (LNP) technology to enable nucleic acid treatments for rare diseases. LNPs are crucial for delivering nucleic acids directly to cells, enabling gene silencing, expression, or editing. This technology is not just revolutionary; it's a beacon of hope for those who had few or no therapeutic options. 🌟 A Story of Hope: A Miracle for Makeda In line with Rare Disease Day, we're also resharing the inspiring story of Barbara Insley, LL.B, CFA, CIPP/C - a Vancouver mother fundraising to save her daughter’s life from an extremely rare disease (https://lnkd.in/gKa7Z5-r). Thanks to the collaborative efforts within our community, including our collaborator Colin Ross. Rare diseases may be individually uncommon, but together they represent a significant global health challenge. Our commitment at NTx is unwavering: to push the boundaries of science and technology to offer new hope and solutions. #RareDiseaseDay2024 #LNPTechnology #NanoVationTherapeutics #RNA #nucleaicacid

Rare disease is hard. The science is hard and yes, the business of ultra-rare is (lately) harder still. But the words “It’s just too rare; there will be no treatment in your child’s lifetime or possibly you own lifetime,” are the hardest of all. My family heard those words about our daughter and sister, Taylor, more than 17 years ago. We knew very little about rare disease, but there was one thing we knew for sure — CLN1 disease was going to get the fight of a lifetime, and an army of supporters joined our cause. On Rare Disease Day 2013, we announced our support of a CLN1 disease study with Steven Gray. Eleven years later, a child has been treated. I wish that I could adequately describe my family’s joy in this news. It’s humbling to think of the many people on the path to treating Charlie who believed with us, cared with us, and shared with us. It’s also a somber moment. For parents of a child with CLN1 disease, eleven years feels like a lifetime, in fact, it IS a lifetime. We can do better. We need earlier diagnosis to enable treatment at a time that makes sense for these children. We need a regulatory pathway that makes sense for ultra-rare diseases. We need to give these innovative treatments a chance. We need to create hope for more children and families. We can do better. We MUST do better.

It's SCN8A International Awareness Day. SCN8A syndrome is a rare genetic condition caused by changes in the SCN8A gene. It affects how electrical signals are transmitted in the brain and often leads to drug-resistant epilepsy, developmental delays, and other neurological symptoms. SCN8A-related disorders can vary in severity and impact each person differently. 4CTL are honoured and inspired by our work with SCN8A Australia to help empower parents, assist in advocate understanding of treatment guidelines and to raise awareness of the power of art in therapy with those born with SCN8A syndrome through the Layla: The Festival of Mark Making events. Make sure you take the time today to look up https://buff.ly/49enuIz and learn a little more about this condition and the heroes leading the way to a brighter future, and follow @scn8aalliance to keep learning. Donation link in first comment, below. #scn8aaustralia #scn8aawareness #collaboratingforacure

According to new #research, having two copies of the APOE4 gene variant may increase the risk of getting #Alzheimers. The study also discovered that individuals with two copies of APOE4 are more likely to develop the #disease earlier in life. . Read the #blog to learn more about this intriguing new research 👉 https://lnkd.in/evFr8_T2 . #alzra #dementia #alzheimersresearchassociation #alzheimersawareness #charity #charitablefoundation

The CMT Biobank is coming to Atlanta, GA, Kansas City, MO and Los Angeles, CA! Interested in participating in biomarker research? 🩸 🔬 COMBINEDBrain is traveling to a conference near you!! COMBINEDBrain is a non-profit consortium of over 60 patient advocacy groups - including HNF - for rare, genetic neurodevelopmental disorders. They recognize the need to collect patient samples for researchers to identify biomarkers to be used to treat /develop treatments for our children. They are on a mission to collect ~500 samples from our member organizations over the next 6- 8 months and Hereditary Neuropathy Foundation is one of them. Samples collected from our community will be stored and available to researchers across the world. Are you or one of your family members interested in participating in this exciting project for CMT? Here are the basics: Who: Any participant with a CMT genetic diagnosis or unaffected sibling. What: COMBINEDBrain will be collecting urine samples and blood samples (processed for plasma and a finger stick) to be stored in the CB Biorepository and available for select biomarker projects as well as other interested researchers. They will also collect several online surveys to be completed by participants or their caregivers. https://lnkd.in/ecn_URSp COMBINEDBrain #cmtwegotthis #cmtbiobank #combinedBrain #charcotmarietooth #hnf4cmt #cmtresearch

Dr Rebecca Walker from the University of Sheffield has received a Paediatric Grant Award of £240,000 to study how cell signalling can lead to the growth of kidney cysts in autosomal recessive polycystic kidney disease (ARPKD) and how to prevent it. ARPKD is a form of the inherited disorder polycystic kidney disease (PKD) and is mainly caused by a fault in a specific gene called PKHD1. The condition occurs when both parents have a copy of this faulty gene (but do not have the condition themselves) and pass it on to their child. It causes rapid cyst growth in the kidneys and can cause kidney failure soon after birth. Although this condition is rare, it has a big impact on children and often requires a lifetime of care. Rebecca has found that the PKHD1 gene interacts with another gene, related to PKD. Both make a protein that tell cells how to react. She will investigate what goes wrong when these proteins are faulty and how this information can be used to prevent the growth of kidney cysts. Do you have ARPKD? Read the full story here: https://bit.ly/3L0cqFe

Royal Life Saving Society UK - RLSS UKSuggest research of ‘Ganoderma Lucidum’ Botanical option researched multiple papers and studies conclude half of cancer growth of taken as a tea ingestion can halt additional growth.  I am families cousin, know first hand cancer issue. I survived stage 6 terminal KS I drank Ganoderma Lucidum tea and still living years after.  We can survive. I had chemotherapy on my back, I had chemical treatments over long periods. Took me 12 months to overcome. Start drinking the tea if you find cancer. Mastitis growth halt’s reproductive cancer growth. 

📃Scientific paper: Thyroid nodules in children and adolescents: Investigation and management Abstract: Clinically detectable thyroid nodules are less common in children than adults. However, they are associated with an increased risk of malignancy. Therefore, thorough evaluation of paediatric thyroid nodules is necessary, and an understanding of the features associated with a higher risk of malignancy is important to guide management and referral. Thyroid cancer in children differs significantly from that seen in adults in terms of genetics, presentation, response to treatment and prognosis. Children often present with more advanced disease, but the vast majority have excellent long‐term prognosis. Evaluation and management of thyroid nodules and thyroid cancer require a multidisciplinary team approach and involvement of specialists with experience in this field. This review summarises investigative pathways for thyroid nodules in children and outlines current management strategies for paediatric thyroid nodules and cancer. Continued on ES/IODE ➡️ https://etcse.fr/mtqVe ------- If you find this interesting, feel free to follow, comment and share. We need your help to enhance our visibility, so that our platform continues to serve you.

This is such a great witness to the impact of our myGenetics initiative, and for the importance of seeking personal preventative care in general. Thanks to Deenya for sharing her story and being an amazing patient advocate! #healthpartners #mygenetics #genetics #geneticcounseling #patientexperience #precisionmedicine #preventativehealth #offthechartspodcast

As a not-for-profit funder of medical research into the rare genetic condition PTEN hamartoma tumour syndrome (PHTS) we are proud to mark Rare Disease Day on 29 Feb 2024.    An at a glance a summary of our key research activities are shown in the graphic below. Our Innovation Award programme is currently accepting new applications that support our mission to fund and facilitate research that will lead to better treatments and improved outcomes for people with PHTS.   For more information see https://lnkd.in/eDa7PE5d   About PHTS   In PHTS germline to mutation of the PTEN gene increases PI3K/AKT/mTOR signalling, a key pathway regulating cell growth. Individuals with PHTS have an increased predisposition to cancer as well as various significant co-morbidities, including developmental delay, autism spectrum disorder, polyposis, vascular anomalies and hamartomas. The prevalence of PHTS is estimated to be 1:200,000 but the condition is likely under-diagnosed.