Jose Antonio Lopez Escamez’s Post

Genetic testing for coeliac disease can be valuable in uncertain cases. While a negative test rules out the condition, a positive result only indicates susceptibility. Remember: proper diagnosis requires clinical testing while still consuming gluten. Discover the full diagnostic process at https://lnkd.in/ggCJBZD7 #CoeliacAustralia #GeneticTesting #CoeliacAwareness

Recent paper looks at measuring waste and the potential clinical risk from limited gatekeeping of Rare Disease genetic testing. A lack of National governance structures is causing a clinical risk. Learn more👉bit.ly/3BTXac0

Why rare diseases take long to be diagnosed? Rare diseases often take years to be accurately diagnosed (typically around 5 years or even longer) due to a combination of factors that complicate and delay the diagnostic process: 1. Limited Awareness and Knowledge 2. Nonspecific or Overlapping Symptoms 3. Limited Access to Genomic Testing: 4. Lack of Coordinated Care with Patients 5. Genetic Complexity Addressing these delays requires increasing clinician education, genetic counseling, improving access to specialized testing, fostering coordinated care, and raising awareness about the importance of rare diseases research. #RareDisease #GenomicTesting #Diagnoses #WES #WGS

🧬What does the process of genetic testing look like for a rare disease patient? For many, genetic testing can offer clarity and peace of mind by confirming a diagnosis or assessing the risk of disease development. However, for those with non-inherited rare diseases, their reasoning may differ. In Alithea Athans' latest column, she explains why she decided to undergo genetic testing as someone with cold agglutinin disease (CAD), which isn’t inherited. Read more here ➡️ https://brnw.ch/21wLSjb #RareDisease #RareDiseaseAdvocate #RareDiseaseCommunity #CareAboutRare #BeyondRare #RareCommunity

mpox: the recent news letter from Institut Pasteur highlights 5 important recent discoveries regarding this disease: - sexual transmission through genital lesions - outbreaks in cities while the disease was mostly found in rural areas previously - an African squirrel as a potential reservoir of the virus - new rapid diagnostic tests - improved genomic sequencing methods under development to facilitate sequencing in remote areas https://lnkd.in/efwhVBGa

Despite the tremendous success #NewbornScreening (NBS) has had, there remain gaps in the system leaving diagnosable #RareDiseases unaddressed. We can address the limitations of NBS and support stronger infant health outcomes. This will require political leadership to supplement newborn screening with #GeneticTesting. Today, we have the scientific capability to identify one of the numerous defective genes, enabling the prompt diagnosis of infants. It's unreasonable that we leave patients with rare diseases undiagnosed because we’re not supporting genetic testing for those diseases.    Read about the life-saving potential of NBS: https://lnkd.in/g_qEp8mW 

🌹Non- nutritional causes of anemia 🌹 Sickle cell disease is a genetic blood disorder that significantly increases the risk of #anemia. Individuals with sickle cell disease have abnormally shaped red blood cells, leading to various complications such as acute pain episodes, infection and organ damage. What could be done ❗❗❗ 🎀Increase awareness of sickle cell disease to facilitate early diagnosis and intervention. 🎀Advocate for improved access to comprehensive care services for individuals with sickle cell disease. 🎀Support research for innovative treatments and potential cures for the condition. 🎀Educate individuals with sickle cell disease on self-care practices. 🎀Encourage genetic counseling for informed family planning decisions. #anemiaawareness #hiddenhungerawareness

Very much looking forward to attend #IsporEU2024 to learn and discuss how can we establish and share value sustainable for health systems, mainly in the Rare diseases/Gene therapies area

Curious about a powerful knowledge graph for genes, diseases, and phenotypes? Discover the Monarch Initiative today to discover more about interoperability and many other features: https://lnkd.in/feVzi3f https://lnkd.in/e4ZE4wqk

GeneDx pushes for faster rare disease diagnosis Genomic testing could diagnose rare diseases within weeks, but misconceptions are slowing progress, GeneDx CEO says. Read in Morning Brew: https://lnkd.in/e9AuJ_f7