HELIOS ACTION’s Post

In recent years, significant progress has been made in the diagnosis of haemophilia, making what was once considered an incurable disease treatable.    For World Haemophilia Day, we interviewed distinguished Unilabs’ haematologist, Assoc. Prof. Maria Hulikova, from our Centre for Haemostasis and Thrombosis, to explore the condition’s complexities and the role of early diagnosis.     She outlines how multi-discipline collaboration, specialist DNA analysis, and prenatal examination are today furthering treatment and management options for sufferers.    Read the interview for her perspectives on how a combination of genetic approaches are reliably detecting carriers and providing transformative predictive analysis on the extent and severity of the disease ⤵️        https://lnkd.in/eipQEba4    #WorldHaemophiliaDay #Diagnostics #Healthcare 

Amber N. Freed: Advocate, rare mom, and Founder of SLC6A1 Connect In this episode she shares the roadblocks and the importance of ICD-10 codes for rare diseases. Hear some of her personal struggles and the broader challenges faced by the rare disease community in navigating the healthcare system's reliance on these codes for diagnosis, treatment, and insurance billing. Amber highlights the urgent and critical need for common-sense reforms to facilitate research, recognition, and treatment of rare diseases. Our space needs accurate coding. How do we fix the process for obtaining ICD-10 codes for new diseases, and what are the collective efforts needed to drive change in this pivotal area of clinical medicine? Once Upon A Gene, starts now!! 🎧 SynGAP Research Fund (SRF) TESS Research Foundation EveryLife Foundation for Rare Diseases COMBINEDBrain #RareDisease #ICD10 #PodcastForACause

ICD-10 codes for rare diseases is so important. Without classification and data collection so many are trying to drive positive change and awareness whilst being restricted by the system.

Effie Parks & Amber N. Freed Great that you spotlighted this topic! I understand you are talking about CDC ICD10-CM? Just wish to comment that this is not the same classification as WHO ICD10 or ICD11, it is actually a modified classification based on WHO ICD10. For eg. our rare SATB2 syndrome has a CDC ICD10-CM code (which is great) and can be used in many US states, but it has NO use outside USA. I looked into this topic more in depth to find a solution in Europe, but I gave up as in the EU, countries are not using the same Modifications/ versions of WHO ICD-10 and some are now using ICD11...So it was already confusing where should we actually apply to get the result we want.(to locate our patietns)..I left it there with the hope that Orpha Codes in Europe (as a paralel Coding for rare diseases) will address this issue. But then again it all comes down to the clinicians' awareness and their will to code a rare disease patient in this parallel system...There are conversations ongoing how to connect ICD 11 and Orphacodes, but let's see when and how will this resolve 🙄 😊

On today’s Rare Disease Day, we join in to shed light on the approximately 300 million patients worldwide with a Rare Disease. On average, it takes around seven years until a patient is diagnosed. Genomic analysis can help to reduce that time significantly.  To share genomic data between researchers and clinicians more easily and efficiently, GHGA is currently building an omics data platform in Germany for sharing and research. By bringing many rare cases together, we can open up opportunities for more research into these diseases. ACHSE e.V. Allianz Chronischer Seltener Erkrankungen e.V. #rarediseaseday #ColourUP4RARE #SeltenSindViele #GemeinsamBuntWerden #TagderseltenenenErkrankungen #TeiltEureFarben

The Clinical Laboratory Services Market is anticipated to hit a whopping USD 380.65 billion by 2029! The surge in chronic and infectious diseases, coupled with the demand for precise and early diagnosis methods, fuels this growth. Additionally, the rising burden of cancer is set to further drive the demand for clinical diagnostics. Want to dive deeper into the reports? Click here for more insights: https://lnkd.in/deYrp734 Major Players: OPKO Health, Inc. | Quest Diagonostics | Labcorp | NeoGenomics Laboratories | Myriad Genetics #Clinicallaboratory #healthcare #marketresearch #marketintelligence #mordorintelligence

Validation of the familial chylomicronaemia syndrome (FCS) score in UK FCS registry "In Rare Disease Month, this study validates the use of the clinical score for the diagnosis of #FCS in a UK population" Implications for diagnosis and differentiation from multifactorial chylomicronaemia syndrome (MCS) 1. The familial chylomicronaemia syndrome (FCS) score (Moulin et al. Atherosclerosis, 2018) performs well and valid for UK population 2. The optimal cut-off for score in UK population is at 10 points with sensitivity and specificity of 96% and 75% respectively 3. The FCS Score efficiently screens for FCS in resource-limited settings, facilitating patient selection for genetic testing 4. Integrating more clinical FCS predictors into the FCS score did not enhance the score's performance https://lnkd.in/dKN_dd_h European Atherosclerosis Society #FCS #RareDiseaseDay #FHEurope #FHEF @EURORDIS FH Europe Foundation Magdalena Daccord

A team of #NIAMSfunded researchers identified a critical imbalance of immune cell types in lupus patients, which contributes to the production of disease-causing autoantibodies. This groundbreaking discovery opens new avenues for a potential treatment aimed at disrupting formation of these harmful cells.  Check out our latest Spotlight article for an in-depth look at this research and its implications for #lupus treatment: https://go.nih.gov/5CuKCdv

Clinical trials for rare diseases are challenging to implement and new pathways and disease-specific methodological approaches are therefore needed. What are your thoughts? #ClinicalTrialDesign #RareDiseases #Ophthalmology

On April 29th, we recognize and honour those individuals who live with undiagnosed conditions. An undiagnosed disease refers to a medical condition where the underlying cause remains unidentified by healthcare professionals. There are 350 million people suffering from >10,000 genetic disorders/rare diseases, but less than 500 of these diseases have an approved treatment. Currently, there is a lack of fast, accurate, and affordable diagnostics, with more than 40% of patients initially misdiagnosed. When a genetic condition is extremely rare, it often remains undiagnosed and is generally referred to as a Syndrome Without A Name (SWAN). At gMendel®, our ambition is to democratize diagnosis of genetic disorders and contribute to the development of more treatments available for the many families living with a burden of rare diseases. #genetics #genomics #screening #diagnostics #rarediseases #geneticdisorders #healthcare #innovation #healthtech #AI #artificialintelligence #machinelearning #companiondiagnostics #precisionmedicine #VC #venturecapital Undiagnosed Diseases Network Foundation (UDNF) Genetic Alliance UK UDNI National Organization for Rare Disorders