Antimicrobial Resistance Fighter Coalition’s Post

(6/9) We are excited to disclose our second genetic disease program: Fabry disease. In #Fabrydisease, which effects approximately 8,000 people in the U.S., harmful levels of Gb3 accumulate in blood cells and tissues throughout the body, due to insufficient αGal enzyme activity, which can lead to a range of symptoms, including potentially life-threatening ones such as kidney failure, heart failure and stroke.     We have created the first non-inhibitory chaperone, which is designed to stabilize the αGal protein without inhibiting its activity, thus enabling greater Gb3 clearance across organs. We expect this program to enter the clinic in the second half of 2025.

Let's talk about cystic fibrosis (CF) - a progressive genetic disease that, if left untreated, can cause persistent lung infections and respiratory failure. What else do you need to know? Swipe to learn more and pass this along. What's something you'd like to bring to light about CF? #CysticFibrosis #GeneticMedicine #mRNA

Alpha-1 Antitrypsin deficiency is the most common genetic risk factor for COPD as well as liver disease in children. Early diagnosis is essential and lung damage is not reversible. SPIFE Touch A1AT allows identification of clinically relevant phenotypes on up to 40 samples per gel. Separations are clear for greater ease in interpretation. https://lnkd.in/gFaXq6kM

One of the biggest challenges of living with LHON is dealing with loss. We’ve all experienced some level of loss in our lives, but the experience of losing your sight is one that I hope you never have to go through. Leber hereditary optic neuropathy (LHON) is a rare, devastating condition that affects between 1 in 30,000 and 1 in 50,000 people in the UK. For many affected by LHON, the sudden loss of sight is life-shattering, it impacts every aspect of their lives from being able to go out and socialise, drive, recognising faces, words and much more. The loss of independence, employment and overall well-being some face is unfathomable. Living with LHON is a highly variable experience. Some may see their symptoms stabilise, while others might experience periods of partial vision recovery, only to face further deterioration. This cycle of hope and loss is particularly challenging, making the emotional toll of LHON significant not only for those affected, but also their loved ones. Unlike congenital vision loss, LHON often strikes at critical periods of life, such as adolescence or early adulthood. At these times, people are often pursuing education, careers, and personal goals. 💚On this LHON awareness day, we recognise the challenges faced by the LHON community. By raising awareness, we can foster a greater understanding of this condition and support efforts to improve the lives of those affected. 🤝Chiesi is committed to supporting those affected by a rare disease, ensuring they can lead the lives they deserve. UK-CHI-2400731 | September 2024 

May is Cystic Fibrosis (CF) Awareness Month! Did you know some of these facts about CF? Cystic Fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs. Approximately 40,000 children and adults in the US are living with CF. Around 1,000 new CF cases are diagnosed each year. More than 75% of CF patients were diagnosed by age 2. Today, more than half of the CF population is over the age of 18. Life expectancy with CF has improved greatly with new therapies, but there is still no cure. #CFAwarenessMonth #CysticFibrosis #PatientCare

May is CF awareness month! Learn more about CF below!

Sickle Cell Awareness Month: A Focus on Prevention and Treatment This month, we're highlighting the latest research on exertional rhabdomyolysis (ERM) in individuals with sickle cell trait (SCT). Sickle cell disease is a chronic condition that causes red blood cells to harden and form a sickle shape. Our recent study delves into the genetic factors that may contribute to the development of ERM in SCT-positive individuals. Understanding these factors is crucial for developing effective prevention strategies. ➡️ Read the article: https://ow.ly/Klxb50Tovp0 #SickleCellAwarenessMonth #SickleCellMatters #CHAMPresearch

🌐 Tuberculosis Awareness TB is a chronic respiratory disease caused by Mycobacterium tuberculosis, often in the lungs. It spreads through the air and can be latent (no symptoms) or active (with symptoms like cough, fatigue). Early diagnosis is key, with rapid molecular tests recommended. Pluslife's molecular POCT solution offers quick and lab-level accurate TB tests, with the sputum and tongue swab options making sampling easier.   🏥 Treatment and Prevention Early treatment and consistent medication can successfully cure active TB, rendering patients non-contagious. Prevention involves managing infection sources, early testing, and interrupting transmission pathways. More information at www.pluslife.com   Let's unite to #EndTB! 💙 #Tuberculosis #moleculardiagnostics #pointofcare #infectiousdiseases

Our end-to-end thiopurine testing for patients with inflammatory bowel disease was thoughtfully developed to consider genetic variations, both in individuals and certain ancestral groups, that impact metabolic response. Learn more. https://bit.ly/4aN12a8

Delays in diagnosing Fabry disease result in delayed treatment and worse outcomes by association. Enhance your understanding of this rare genetic disease and learn at your own pace with our interactive module on The France Foundation: https://bit.ly/9244F