FIP Early Career Pharmaceutical Group’s Post

Sometimes I have the privilege to work in disease areas people have rarely heard of, for conditions I hope no one ever has to have. Progressive Familial Intrahepatic Cholestasis (PFIC) is an umbrella term that represents a group of rare genetic liver disorders. The hallmark symptom of PFIC is a severe and debilitating itch. The disease typically presents in infancy or early childhood. The exact prevalence is unknown, but PFIC is estimated to affect 1 in 50,000-100,000 people worldwide. There is currently no cure for PFIC and related diseases. Learn more by visiting www.pfic.org. Together, we can make a difference. #StrongerTogether #ItchingForACure

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

Let’s talk about the symptoms of cystic fibrosis (CF). CF is a progressive, life-threatening genetic disease that can lead to severe respiratory and digestive problems if untreated. Swipe left on the graphic for some key symptoms you should be aware of. Recognizing these symptoms early can lead to a timely diagnosis and better management of CF, significantly enhancing the quality of life for those affected. #CysticFibrosis #GeneticMedicine #CFAwareness

Progressive Familial Intrahepatic Cholestasis is an umbrella term that represents a group of rare genetic liver disorders. The hallmark symptom of PFIC is a severe and debilitating itch. The disease typically presents in infancy or early childhood. The exact prevalence is unknown, but PFIC is estimated to affect 1 in 50,000-100,000 people worldwide. There is currently no cure for PFIC and related diseases. Learn more by visiting www.pfic.org. Together, we can make a difference. #StrongerTogether #ItchingForACure

Loss of splicing repression at cryptic sites as disease-associated marker in ALS-FTD. Accumulation of erroneously spliced proteins as a seed or accelerator for aggregation in Neuropathies are an interesting thought. Getting closer to the root cause for these diseases? https://rdcu.be/dxDgp

The second most common clinical manifestations (~30%) in #IKAROS (#IKZF1 gen) haploinsufficiency mutations carriers are #autoimmune diseases, which include idiopathic thrombocytopenic purpura, seronegative #arthritis, systemic #lupus erythematosus, and #antiphospholipid syndrome. 🔗https://lnkd.in/eTcs-aKy

Congenital Disorders of Glycosylation are an increasingly common rare disease (closing in on 200 distinct genetic conditions - not bad for a disorder first described in the 1980s). Isoelectric focusing may detect some cases but a negative tIEF does not rule out CDG. Normal transferrin glycosylation does not rule out severe ALG1 deficiency Inez Bosnyak, Mustafa Sadek, Wasantha Ranatunga, Tamas Kozicz, and Eva Morava-Kozicz https://lnkd.in/eDK6cBvm #CDG #raredisease

May is Cystic Fibrosis Awareness Month. Cystic Fibrosis (CF) is the most common fatal genetic disease affecting Canadian children and young adults. It causes damage to the lungs, digestive system, and other organs. Experts estimate one in every 3,600 children born in Canada has CF. Learn more about it here: www.cysticfibrosis.ca #CFAwarenessMonth #CysticFibrosisAwarenessMonth #CBAwarenessMonth

29 February, which only occurs every 4 years, is Rare Disease Day. A disease is considered as rare if no more than 5 in 10’000 people suffer from it. Around 8’000 rare diseases are known to date and more are discovered every year.    Healthcare Communication is all about profound information for doctors and patients. Puls also creates communication materials for various rare diseases. These materials can help to raise awareness for these diseases.     Do you know PNH? Probably not. PNH stands for paroxysmal nocturnal haemoglobinuria and describes an acquired genetic disease that is very rare. There are around 16 cases per million inhabitants. It mainly manifests itself as anaemia and an increased tendency to thrombosis and should always be taken seriously. #puls_healthcommunication #pharmamarketing #healthcarecommunication #healthcaremarketing #basel #rarediseaseday #raredisease FEEL OUR PULSE? Website | puls.ch Instagram | puls_ag X | puls_ag

29 February, which only occurs every 4 years, is Rare Disease Day. A disease is considered as rare if no more than 5 in 10’000 people suffer from it. Around 8’000 rare diseases are known to date and more are discovered every year.    Healthcare Communication is all about profound information for doctors and patients. Puls also creates communication materials for various rare diseases. These materials can help to raise awareness for these diseases.     Do you know PNH? Probably not. PNH stands for paroxysmal nocturnal haemoglobinuria and describes an acquired genetic disease that is very rare. There are around 16 cases per million inhabitants. It mainly manifests itself as anaemia and an increased tendency to thrombosis and should always be taken seriously. #puls_healthcommunication #pharmamarketing #healthcarecommunication #healthcaremarketing #basel #rarediseaseday #raredisease FEEL OUR PULSE? Website | puls.ch Instagram | puls_ag X | puls_ag