SequenceMD’s Post

Today is Rare Disease Day, which aims to raise awareness and generate change for the 300 million people living with a rare disease worldwide. Genetic testing is often an essential part of the diagnostic process for rare diseases; approximately 72% of rare diseases are genetic. APDS is a genetic condition. In APDS, a definitive diagnosis is essential for disease management and can help alleviate the uncertainty that patients and their families experience from living with unanswered questions about their health. Learn more at https://shor.by/avrd #primaryimmunodeficiency#AllaboutAPDS #rarediseaseday

💡Today, February 29, marks a significant day in healthcare: Rare Disease Day! On this #rarediseaseday, let's spotlight the 300 million people worldwide living with a rare disease. 🌍 Did you know? 🔎Over 6000+ rare diseases have been identified, each presenting unique challenges to patients and healthcare systems. 🔎Crucially, 70% of those genetic rare diseases start in childhood, impacting our most vulnerable from the very beginning. One of the most promising tools in the battle against rare diseases is genetic testing. It's not just a means of diagnosis; it's a gateway to understanding, treating, and managing these conditions more effectively. Genetic testing offers insights that lead to personalized treatment plans, enhancing quality of life and offering hope where there was little before. #RareDiseaseDay #GeneticTesting #HealthcareInnovation

#AbbVie is actively pursuing diverse strategies to redefine diseases, moving away from symptom-based diagnoses to a more precise approach centered on the patient's molecular profile. With numerous individuals affected by autoimmune disorders, there's a pressing need to identify effective therapies tailored to their needs. #AbbVie aims to develop treatments that go beyond symptom management, targeting underlying disease mechanisms with the potential to resolve and even cure pathology while restoring the immune system. https://lnkd.in/gys4Gyc9

🦓 🎨On this Rare Disease Day, February 29th, I'm consulting at Genome Ally with a woman who carries the burden of X-linked creatine transporter deficiency. She was tested when her nephew, affected by cognitive delays, seizures, and poor growth, received a diagnosis. Determined to prevent her children from inheriting this condition, she seeks guidance to do IVF with preimplantation genetic testing (PGT-M). X-linked creatine transporter deficiency is a debilitating genetic disorder characterized by inadequate transport of creatine, vital for cellular energy production. While only around 150 cases have been identified globally, the true prevalence of CTD remains elusive. The zebra serves as the emblematic mascot for rare disease patients. In the past, medical practitioners were advised that when they "hear hoofbeats," they should anticipate a common answer like a horse, not a zebra. However, current data reveals a different reality: one in every 10 Americans grapples with a rare disease, joining over 300 million individuals worldwide who share this struggle. Too often, these individuals and families are left isolated and without answers to their medical questions. It doesn't have to be that way. Rare Disease Day is a global initiative to raise awareness and generate support for everyone who is on a rare medical journey. The National Organization for Rare Disorders is the U.S. partner for Rare Disease Day. #rarediseaseday #showyourstripes #GenomeAlly #NORD

Today is Rare Disease Day. Did you know there are more than 6000 rare diseases? And 70% of genetic rare disease has childhood onset? Today is a great day to (further) educate yourself, raise awareness, and advocate for those with rare disease. I’m proud to work in a field where I can help individuals and families receive a diagnosis that will help inform decision-making, direct therapies/treatments, offer research opportunities, connect with supports, and raise awareness. #RareDiseaseDay #GeneDx #Awareness

Today is Rare Disease Day! Rare Disease Day is a global initiative to raise awareness and generate support for everyone who experiences the journey of a rare disease....patients and caregivers alike. What is Rare Disease? A disease or condition that affects fewer than 200,000 Americans. Rare Disease Stats: 🟣 There are 300 million people with rare diseases world-wide 🟢  7,000+ rare diseases affect more than 30 million Americans 🔵 72% of rare diseases are genetic disorders Most Common Rare Diseases: 🦓 Ehlers-Danlos Syndrome (EDS) 🦓 Sickle Cell Disease (SCD) 🦓 Cystic Fibrosis (CF) 🦓 Duchene Muscular Dystrophy (DMD) 🦓 Hemophilia #CareAboutRARE #ShowYourStripes #RareDisease

📣 Our research team leverages innovative technology - including human liver models called #organoids and 3D microtissues known as #spheroids - to develop treatments for rare liver diseases, with an emphasis on Acute-on-Chronic Liver Failure (#ACLF). 👉 Learn more about our expertise at https://lnkd.in/eUVZjUfz #DrugDevelopment #RareDiseases #LiverDisease

* More than 300 million people worldwide are living with a Rare Disease. 70% of Rare Diseases start in childhood. * Sickle Cell Disease (SCD) is a rare inherited blood disorder. * Sickle Cell Disease affects around 100,000 people in the US and is the fastest growing genetic disease in the UK and Western Europe. * >400,000 babies are born with SCD every year globally.   On #RareDiseaseDay Afimmune are proud to be developing #Epeleuton for #SickleCellDisease and other rare blood disorders.   #RareDiseaseDay #SickleCellDisease #Epeleuton 

Rare diseases are conditions that afflict less than 200,000 people in the United States, but they are far less rare in the aggregate, afflicting millions—and in their disparate types: There are more than 10,000 known rare diseases. In his latest essay in The San Diego Union-Tribune, David Brenner discusses the particular challenges of identifying and developing treatments for rare diseases, and the work being done at the Sanford Children’s Health Research Center. Read more: https://bit.ly/48ccbQz Mark your calendars: February 29 is Rare Disease Day. Sanford Burnham Prebys will host its annual scientific and family symposium on congenital disorders of glycosylation, an umbrella term that covers more than 190 rare (fewer than 2,000 children worldwide) genetic diseases on March 1, 2 and 3. Register here: https://bit.ly/494vPPu #rarediease #rarediseaseawareness #rarediseaseresearch #rarediseaseday #childrenshealth

Turns out RARE is not rare. According to the National Organization for Rare Disorders (NORD), one out of every 10 Americans is living with a rare disease. Worldwide, there are more than 300 million people with rare diseases. Too often, these individuals and families are left isolated and without answers to their medical questions. It doesn't have to be that way. Rare Disease Day is a global initiative to raise awareness and generate support for everyone who is on a rare medical journey. It takes place on the last day of February, which this year is February 29, the rarest day of the year. Learn more here: https://lnkd.in/e2nh5pd The zebra is the official mascot for rare disease patients. Historically, medical professionals were told that when they “hear hoofbeats,” they should not expect to see a zebra. In other words, look for the more common answer, a horse. But for one in ten Americans, it is actually a zebra! It might not be obvious, which is why on and #RareDiseaseDay, people are encouraged to #ShowYourStripes. SequenceMD understands the unique symptoms, testing, diagnosis, treatment and maintenance needed for certain individuals. Reach out today to learn how genetic testing can support your understanding and future health. #rarediseaseday #genetictesting #genetics #sequencemd #caremanagement #diagnosis #raredisorders #neurogenetic #raregeneticdisorders #metabolicconditions #geneticdisorders