Tata Institute for Genetics and Society, India’s Post

Today is Rare Disease Day. 🧬 There are 300 million people worldwide living with a rare disease. 🧬 There are over 6,000 identified rare diseases. 🧬 72% of all rare diseases are genetic. 🧬 70% of rare genetic diseases start in childhood. 🧬 5% of the world's population are currently affected by rare diseases. Researchers play a critical role in advancing diagnosis and treatment for people with rare diseases. Their work leads to improved understanding, earlier detection, and the development of effective therapies. #Rarediseaseday2024 #Igenomix  #VitrolifeGroup #Genetics #Research

In a world where health is our greatest wealth, the advancement of genetic testing represents a beacon of hope for millions affected by rare diseases. Often, these conditions go undiagnosed for years, leaving patients and families in a constant search for answers. Genetic testing not only offers a pathway to accurate diagnosis but also opens the door to personalized treatments, significantly improving patients' quality of life. By identifying specific mutations causing diseases, doctors can tailor interventions to individual needs, something unthinkable just a decade ago. Raising awareness about the importance of genomics in modern medicine is crucial. Investing in research and development, as well as in the accessibility of these tests, is essential to move toward a future where every rare disease can be effectively detected and treated. Let's make genetic testing a priority in our healthcare system. Because when it comes to rare diseases, genetic knowledge is not just power; it's hope. Igenomix Latam truly committed to scientific community and healthcare sector in the pathway pf genetic testing democratization. https://lnkd.in/eZfUP4eM #cgt #genes #panels #gpdx

This year, Rare Disease Day falls, appropriately, on the rarest day 29th February. But just how rare is rare? Our latest blog post considers the factors that may result in a large underestimate of the true prevalence of rare diseases, and how this “hidden population” can be more accurately quantified using genetic databases. https://lnkd.in/dpJ3K9we #raredisease #rarediseaseawareness #genomics #rarediseaseresearch

Today is World Congenital Diseases Day. Congenital diseases are diseases that occur at birth or during infancy. Genetic factors, environmental factors, or a combination of both can cause them. The role of genetics in congenital diseases is fundamental. Genes are responsible for the production of proteins, which are essential for the proper functioning of the organism. When genes are mutated, they can cause developmental and growth problems. On this world day, let us remember the importance of early diagnosis of congenital diseases; it is essential to be able to offer the best possible treatment. #SistemasGenomicos #SYNLABEspaña #WorldCongenitalDiseasesDay #DiaMundialdelasEnfermedadesCongenitas #CongenitalDiseases #Diseases #Genetic #EnfermedadesCongenitas #Enfermedades #Genetica #Integral #MedicalExcellence #ExcelenciaMedica #Prevencion #Diagnostico #Prevention #Diagnosis

The countdown to Rare Disease Day continues! Did you know that over 6,000 rare diseases have been identified? This number will only continue to grow as our genetic technology and knowledge improves over time, as the majority of these conditions have a genetic basis. 🧑🔬 Currently, the average time it takes for rare disease patients to receive an accurate diagnosis is 4.8 years, and many patients never receive one (visit globalgenes.org to learn more). Genetic counselors often have an important role in establishing a rare disease diagnosis. We evaluate patients' personal and family histories and determine the most relevant and appropriate genetic testing plans. Establishing a diagnosis through genetic testing can significantly reduce the time it takes to receive a diagnosis, and sometimes only a genetic test can tell us the exact diagnosis a person has! 🧬 To learn more about how a genetic counselor can help, visit https://lnkd.in/gPY5uT3. To get involved in Rare Disease Day this February 29th, visit www.rarediseaseday.org and follow https://lnkd.in/g4zE8QpK. #RareDiseases #RareDiseaseDay

Several pancreatic conditions have genetic origins. Pinpointing a genetic diagnosis can deepen understanding of the prognosis and help clarify risk for family members of affected individuals. Learn about our testing for pancreatic diseases. https://bit.ly/3y5mSb1

Cystic fibrosis is a disease that causes thick, sticky mucus to build up in the lungs, digestive tract, and other areas of the body. It is one of the most common chronic lung diseases in children and young adults. Genetic testing may be used to look for carriers of mutated CFTR genes and to screen relatives of people who have cystic fibrosis. #cysticfibrosisawareness #chroniclungdisease #genetictesting #genetictesting

🌟 It’s International Neonatal Screening Day, and we are launching #Screen4CareFindings! 🔎 In this new series, we will share project findings to provide scientific insights into our efforts to shorten the path to #RareDisease diagnosis. 1️⃣ First episode: #MachineLearning and Rare Diseases, with Georgi Iskrov. 👇   #NewbornScreening #NBS #Genetics #ML #Screen4Care

As a charity committed to providing greater choice for those affected by genetic conditions PET is supporting 'Rare Disease Day 2024'. Please share this post and help the Genetic Alliance UK get #RareDiseaseDay trending!. Rare Disease Day is an important international awareness day that takes place annually on 28 February (or 29 February in leap years). This date was chosen because 29 February is the rarest day of the year. Many rare diseases are caused by genetic conditions. Here are some facts and figures from the UK Rare Disease Framework (Department of Health, 2021) - 8 in 10 rare diseases are caused by a change to someone’s genetic code - Some rare gene disorders affect only 1 or 2 people in the UK and a handful of people around the world - Some people may be the only person in the world affected by a particular change to their genetic code - Every year around 6,000 children in the UK are born with a genetic condition so rare that it does not yet have a name. This might be because the right test has not yet been developed to diagnose it, or the genetic cause of the condition has not been discovered. An undiagnosed genetic condition is known as a ‘syndrome without a name’ or SWAN You can learn more about Rare Disease Day 2024 and how to get involved by going to https://lnkd.in/eV2w_nt2 All images and information via Genetic Alliance UK, https://lnkd.in/egxpdNtX, Accessed February 2024. #RareDiseaseDay #genomics #genetics # #rarediseaseawareness #rarediseases #DNA

From multiple myeloma to metabolic disorders, hemoglobinopathies, genetic, autoimmune and infectious diseases, Sebia’s portfolio is designed to address clinical needs and improve laboratory efficiency and safety. https://lnkd.in/d4D3udk6 #sebia #sebiaromania #CDT #HbA1c #myeloma