Sebia’s Post

In this short film mito warrior Danielle provides an insight into her diagnostic journey. Danielle talks about her personal experience and about why getting a genetic diagnosis is important for patients with mitochondrial disease. Find out more about our Precision Diagnostics research project today: https://bit.ly/3mcZliT #mitochondrialdisease #thelilyfoundation #diagnosis #hope

In support of Rare Disease Day 2024, we join hands to find new ways to help people living with rare and debilitating diseases. As a mission-driven company, we are focused on democratizing the early detection of rare but treatable genetic disorders through novel and accessible proteomic analysis. With our initial focus on newborns, we’re aiming high to help change the clinical course for patients and their families afflicted by rare but treatable genetic disorders through early screening. Let’s raise awareness and stand united. #rarediseaseday #raredisease #rarediseaseawareness #newbornscreening #wilsondisease #proteomics

Genetics is no longer about hereditary and disease prevention; it is part of cancer treatment now, which is another reason why genetic screening should to be included in mainstream medicine. In genetic counselling, we empower people to be aware of their health risks and choices. We treat cancer effectively and prevent it. #healthcare #cancergenetics #geneticcounseling #familyhistorynurse #mainstreamtesting #cancer

Just attended a very informative Webinar delivered by Arcensus on “Mitochondrial Diseases: Diagnosis and Genetic Testing” The presentation was insightful, and the speakers demonstrated a deep understanding of mitochondrial disorders, providing valuable information that will undoubtedly contribute to advancements in research and patient care. Thank you Arcensus Looking for more! #Arcensus #mitochondrialdisease #genome #geneediting #Diagnosis #genetictesting

How is thalassemia diagnosed? What tests are involved? In this video, we'll walk you through the step-by-step process of diagnosing thalassemia, from initial screenings to confirmatory tests. We'll discuss the importance of early detection, the role of genetic counseling, and the different diagnostic tools used to identify the specific type and severity of thalassemia. Our channel is your trusted source for reliable health information. Join us as we shed light on the diagnosis of thalassemia and empower you with knowledge. Early diagnosis of thalassemia is crucial for effective management and treatment. Watch our full video to understand the diagnostic process, learn about the various tests involved, and discover the importance of early detection. Empower yourself with knowledge about thalassemia diagnosis! Watch the full video on our YouTube channel and share it with others to spread awareness. https://lnkd.in/dypBmek7 #Thalassemia #ThalassemiaDiagnosis #BloodDisorder #GeneticDisorder #ThalassemiaAwareness #HealthEducation #MedicalTests

Did you know that 1 in 10 Americans has a rare disease, and nearly 80 percent of them are genetic, with two-thirds being children? Wondering how genetic counseling works? Genetic counselors guide and support patients and families seeking more information about how inherited diseases and conditions might affect them or their families. They can help patients and families understand the risks, benefits, and limitations of genetic tests and interpret genetic testing results. Genetic counselors typically meet with patients and families prior to testing to discuss their options as well as when results are ready in order to discuss any diagnoses, changes in management, or next steps. Learn more about our programs and the amazing work that they do: https://lnkd.in/eVqRERY4 #genetics #geneticcounselors

TVF's Cheryl Kok shines a light on the struggles of patients living with a rare disease: Systemic Mastocytosis. Cheryl details how the need to raise awareness of this rare genetic disorder along all stages of the patient's journey is crucial, and that any small act to help raise awareness can drive impactful change. #systemicmastocytosis #raredisease #geneticdisease #healthcare #communications Click the link to learn more 🔎 https://lnkd.in/e_ufknJj

Source: GeneReviews Canavan disease is a leukodystrophy characterized by neurodevelopmental delays, macrocephaly, and tone abnormalities. There are two types of Canavan disease: typical and atypical. Typical Canavan disease is more severe and presents with neurodevelopmental impairments followed by neurodegeneration and developmental regression. Atypical Canavan disease is less severe and has a more variable clinical course. Diagnosis can be made through biochemical or molecular genetic testing. Treatment involves multidisciplinary care and surveillance for various aspects of the disease. Canavan disease is inherited in an autosomal recessive manner.

https://lnkd.in/eV2yqQNY This study, published in JAMA Network Open, indicates that ~1/3 of early prostate cancer deaths among men at increased genetic risk may be preventable through healthy lifestyle behaviors. So, if you carry an inherited mutation in a cancer-related gene and/or have a high polygenic risk score (PRS) and/or have a family history of prostate, breast, ovarian, pancreatic, colon, or endometrial cancer in a close blood relative, consider that lifestyle modification can be particularly important to your long-term health. To find a genetic counselor: https://lnkd.in/e7gAXZhC To find a National Board Certified Health and Wellness Coach: https://lnkd.in/ehctgQWA #prostatecancer #inheritedprostatecancer #inheritedcancer #BRCA #NSGC #geneticcounselor #geneticcounseling #cancer #genetics #oncology #health #wellness #healthcoach #healthcoaching #NBCHWC #NBHWC #lifestyle #umassmemorialhealth

If you have symptoms that unexpectedly continue or worsen after standard treatment — or you develop new symptoms — you may have received an incomplete or incorrect diagnosis. Genetic testing and evaluation could identify an untreated underlying issue. SequenceMD is dedicated to ensuring all patients are properly diagnosed and informed of any potential genetic disorder. Download a copy of the Genetic Testing Red Flags Checklist here: https://lnkd.in/e8cmTFyM #SequenceMD #TenGeneticDiseaseRedFlags #adultgenetics #geneticdiagnosis #raredisease #raregeneticcondition #inheritedgeneticconditions #symptoms #genetictesting #genetics #caremanagement #diagnosis #raredisorders #neurogenetic #raregeneticdisorders #metabolicconditions #chromosome15 #geneticdisorders #AngelmanSyndrome #Duplication15q #PraderWillisyndrome