ACTA2 Alliance’s Post

Most people have never heard of mitochondrial diseases while it is now thought to affect 1 in 5000 people, making it the second most commonly diagnosed, serious genetic disease after cystic fibrosis.   Some facts - mitochondrial diseases: -      can affect any organ at any age -      is a genetic disorder which robs the body's cells of energy -      often causes multiple organ dysfunction -      more children die of mitochondrial disease than of childhood cancer   IMol, where Prof. dr hab. Agnieszka Chacińska group and Karolina Szczepanowska group focus on mitochondria-related diseases, joins #MitoWeek to raise awareness of the above-mentioned diseases. #WorldMitoWeek #mitochondrialdisease #mito #lightupformito #mitoawareness #WMDW NCN National Science Centre Polish Academy of Sciences FNP Foundation for Polish Science  

How Are Changes in the Chromosome 4 Related to Health Conditions? Chromosome 4 spans about 191 million DNA building blocks (base pairs) and represents more than 6 percent of the total DNA in cells. Chromosome 4 likely contains 1,000 to 1,100 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body. The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 4. Facioscapulohumeral muscular dystrophy Huntington's Disease (https://lnkd.in/g9nf7YHw) PDGFRA-associated chronic eosinophilic leukemia Wolf-Hirschhorn syndrome Other chromosomal conditions Cancers- leukemia Read More-https://lnkd.in/gYhzEAyN #genetics #geneticcounselor #genomics #diagnosis #geneticcounseling #surveillance #geneticdisorders #chromosomalabnormality #gastroentrologist #Chromosomaldisorder #geneticdisorders  #learning #awareness #alkaptonuria #cancers

🌍 World Sickle Cell Day: Raising Awareness, Inspiring Change 🌍 June 19 Today, on World Sickle Cell Day, we come together to shine a light on sickle cell disease (SCD) – a genetic condition affecting millions worldwide. SCD causes red blood cells to become rigid and shaped like crescents, leading to severe pain, organ damage, and increased risk of infection. Despite its prevalence, it remains underrepresented and often misunderstood. Raising awareness is crucial. It not only fosters understanding and empathy but also drives support for research, better treatments, and ultimately, a cure. Here are a few reasons why spreading awareness about sickle cell disease is essential: 🔬 Promoting Research and Innovation: Increased awareness can lead to more funding for research. Advancements in gene therapy and other innovative treatments offer hope for improved quality of life and a potential cure. ❤️ Awareness empowers individuals and communities to advocate for better healthcare policies, ensuring those affected by SCD receive the necessary care and support. 👩⚕️ Educating the public and healthcare professionals about SCD can lead to earlier diagnoses and more effective management, significantly improving patient outcomes. 🤝 Awareness fosters a more inclusive and compassionate society. Understanding the challenges faced by those living with SCD can inspire us to offer support and solidarity. As we mark this important day, let’s remember the resilience and strength of those living with sickle cell disease and their families. Let’s commit to being part of the solution by raising our voices, supporting research, and advocating for better care and policies. Together, we can make a difference. 🌟 #WorldSickleCellDay #SickleCellAwareness #HealthcareAdvocacy #SupportResearch #InspireChange

How Are Changes in the Chromosome 17 Related to Health Conditions? Chromosome 17 spans about 83 million DNA building blocks (base pairs) and represents between 2.5 and 3 percent of the total DNA in cells. Chromosome 17 likely contains 1,100 to 1,200 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body. The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 17. 17q12 deletion syndrome Acute promyelocytic leukemia Charcot-Marie-Tooth disease Dermatofibrosarcoma protuberans Koolen-de Vries syndrome Miller-Dieker syndrome Potocki-Lupski syndrome Smith-Magenis syndrome Yuan-Harel-Lupski syndrome Read More-https://lnkd.in/d4eWeh27 #genetics #geneticcounselor #genomics #diagnosis #geneticcounseling #surveillance #geneticdisorders #chromosomalabnormality #gastroentrologist #Chromosomaldisorder #geneticdisorders  #learning #awareness

Thank you, EveryLife Foundation for Rare Diseases for this important work. Though her disease wasn't one of the more common Rare Diseases studied in this report, because it's too rare, our daughter, Talia, could have been the "poster child" for this research, as it took us 6 long years to reach a diagnosis, after a misdiagnosis and years of costly, ill-suited treatments that wreaked havoc on her bones and development. It will be many years, if ever, before CMT4J/FIG4-related diseases are part of a newborn screening panel--like many rare diseases, the phenotype is too variable. But with better access to genetic testing and educating clinicians to actually look for Rare and not be afraid to diagnose a disease with no available treatment, we can get better at diagnosing these horrific, progressive, neurodegenerative diseases earlier. We know we can create treatment pathways out of "nothing". Rare Parents and patients are doing it every single day. What if we had gotten to Talia six years earlier? What if we had driven the science toward a gene therapy trial six years earlier? I am confident that she would still be walking, hugging us, feeding herself, and breathing on her own. Let the parents and patients decide what is worth diagnosing. The costs are so much more than dollars. The real cost is lives and quality of life. #curecmt4J #rare #everylife

✨Tom and Rosie, two incredible children who are among only seven confirmed cases worldwide with an ultra-rare disease: DHDDS gene mutation.  Children with pathogenic DNA sequence variants in the DHDDS gene can experience developmental delays and seizures, along with symptoms such as psychosis, Parkinsonism and dementia. NATA is supporting the goals and initiatives of Cure DHDDS, the charity Mel and Charlies founded to raise awareness, support families, and drive research into this ultra-rare condition.  🧬The urgency to find treatments for ultra-rare conditions cannot be overstated. With advancements in ASO therapies, there's hope for improving the lives of those affected by conditions like DHDDS. But this progress relies on funding and research support. Every contribution brings us one step closer to finding treatments and offering hope to families like Tom and Rosie's.  🔗 Learn more about Cure DHDDS: curedhdds.org  Support their fundraising efforts: https://lnkd.in/eYvK-J5N. 🙏 By raising awareness, supporting research, and fostering collaboration, we can make a meaningful difference in the lives of those who are affected by rare diseases like DHDDS.  #DHDDS #NATA #ASOTherapies #UltraRareDisease #RareDisease #RareDiseases #Research #science #oligonucleotides #pharma #pharamaceutical #RNAdelivery #RNAtherapeutics #RNAtherapies #therapeutics #biotech #biotechnology #AdvancedTherapies #GlobalHealth #NATs #Healthcare #Impact #Industry #Innovation #AdvancedTherapies #biopharma #biotech #biotechnology #clinicalresearch #drugdesign #drugdevelopment #drugdiscovery #genomics #GeneTherapy #health #HealthcareInnovation #PrecisionMedicine #HealthcareResearch #Healthcare https://lnkd.in/eyvxvCEz 

Yesterday I exhibited at a community health fair in a small rural community. It is always great to have an opportunity to spread awareness about hereditary cancers and the importance of genetic counseling and genetic testing. I love these opportunities, and am looking forward to another health fair coming up in a more highly populated area in about three weeks that is being sponsored by a minority health and wellness coalition. But I often leave these events scratching my head--and yesterday's event was no exception. How many people am I going to encounter with a personal and/or family history of hereditary cancers who have not only never had genetic testing but have never heard of it? Like the man yesterday who has had two primary cancers himself--both prostate and colon--AND he has a family history of cancer. His response when I talked to him about genetic counseling and genetic testing? "What a great idea! This could really be important for my family to know!" Indeed it could. Why are some oncologists not educating about genetic testing and urging it for their patients? In addition to the potential impact for their patients’ blood relatives, don’t they understand that knowledge gained could inform their patients' treatments? While lots of progress has been made and many lives have been saved over the past nearly three decades since testing first began for the BRCA genes, we sure have a lot more work to do. Today is the beginning of National Hereditary Cancer Week, and National Previvor Day is on Wednesday. Let’s all raise awareness this week about hereditary cancers. My Faulty Gene #hereditarycancer #germline #genetictesting #prostatecancer #coloncancer #geneticcounseling #knowyourrisk #knowledgeispower #nationalhereditarycancerweek

How Are Changes in the Chromosome 12 Related to Health Conditions? Chromosome 12 spans almost 134 million DNA building blocks (base pairs) and represents between 4 and 4.5 percent of the total DNA in cells. Chromosome 12 likely contains 1,100 to 1,200 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body. The following chromosomal conditions are associated with changes in the structure or number of copies of chromosome 12. Pallister-Killian mosaic syndrome PDGFRB-associated chronic eosinophilic leukemia Allgrove syndrome Adrenoleukodystrophy Noonan Syndrome Alzheimer Disease Read More- https://lnkd.in/g6x7Qh_B #genetics #geneticcounselor #genomics #diagnosis #geneticcounseling #surveillance #geneticdisorders #chromosomalabnormality #gastroentrologist #Chromosomaldisorder #geneticdisorders  #learning #awareness

Today is #rarediseaseday Rare Disease Day is observed on 28 February or 29 in leap years – the rarest day of the year. The movement is aimed at raising awareness and generating change for the 300 million people worldwide living with a rare disease, as well as their families and caregivers. A rare disease (or orphan disease) is a disease that affects a small percentage of the population. ❗A disease is rare when it affects fewer than 1 in 2,000 people ❗More than 6,000 rare diseases are identified ❗72% of rare diseases are genetic ❗70% of rare diseases start in childhood This rarity results in little funding or research for treatments. That is why Rare Disease Day works towards equity in social opportunity, healthcare and access to diagnosis and therapies. However, the rise of cell and gene therapies shows promise to offer patients a better chance at long-term improvements. We are proud to be supporting these advances with our cell culture products. Learn more about Rare Disease Day via https://lnkd.in/etGpncj #rarediseases #celltherapy #genetherapy #cancer #geneticdisease