Dr. Laura-Marie Zimmermann’s Post

Today marks Rare Disease Day. Globally, approximately 6,000 to 7,000 rare diseases have been identified, with new ones continually emerging. Despite each rare disease affecting only a small number of individuals, the cumulative impact is significant, touching about 7% of the population. Obtaining a confirmed diagnosis for a rare disease is often a formidable challenge. Developing drugs for these conditions is even more difficult, given the limited number of patients. This not only hampers research into disease mechanisms but also complicates clinical studies due to slow patient recruitment and achieving statistical significance. In 2017, Joern Klinger and I founded biotx.ai with the mission of providing algorithmic solutions for analyzing high-dimensional data—characterized by many features and a small sample size. We are particularly pleased to witness the integration of these methods into the planning of clinical trials, allowing for the stratification of patients based on biomarkers and the definition of improved clinical outcomes. All with the overall goal to make clinical trials in rare diseases smaller and more successful. An additional milestone that brings us immense satisfaction is our recent appointment to the scientific advisory board of Simbec-Orion, a full-service contract research organization specializing in oncology and rare diseases. We are humbled and grateful. Every step forward, whether in refining analytical approaches or contributing to the scientific advisory board, reinforces our dedication to advancing solutions for those affected by rare diseases. Together, let's ensure that accessibility to effective treatments becomes a reality for everyone. Drugs for rare diseases must not be a luxury. #RareDiseaseDay #BiotxAI #ResearchInnovation

🦓 Needle in the Haystack – How We Can Improve Patient Finding for Rare Disease 🦓 🔶 40 years after the US Orphan Drug Act, around 90% of rare diseases still lack treatment, and diagnosis is often slow and cumbersome. 🔶 To improve the process of drug development in rare diseases and bring new treatments to patients, patient-finding strategies are key. 🔶 While one might think that the unmet need of a rare disease automatically drives demand for a new experimental or approved treatment, the reality is often quite different. 🔶 In a recent article in RARE Revolution Magazine, The Healthonauts' Louise von Stechow explored strategies to improve rare disease patient finding: 🦓 Assemble the Puzzle Pieces: Improved disease understanding through comprehensive genetic characterization, clear and holistic symptom descriptions, and patient journey mapping. 🦓 Uncover Hidden Patterns: Innovative methods such as advanced genetic profiling and artificial intelligence to identify rare disease variants and phenotypic matches (for example, based on facial features). 🦓 Learn from the Experts: Integrating patient and caregiver experiences and patient advocacy into patient-finding strategies. 🧡 Read the full article here: https://lnkd.in/e2f9Gkud #raredisease #orphandrugs #drugdevelopment

April is Sarcoidosis Awareness Month. Sarcoidosis is an inflammatory disease of unknown origin. In 90% of cases, the disease leads to lung damage and is accompanied by autoimmune inflammation, resulting in the formation of granulomas—tiny clusters of inflammatory cells. It primarily affects young people, usually occurring before the age of 40. While there are cases of late-onset disease, it typically develops between the ages of 25 and 30. Environmental factors play a decisive role in the development of sarcoidosis. These factors, coupled with genetic predisposition and stress, trigger autoimmune inflammation. Chronic sarcoidosis can remain asymptomatic for many years, with reduced activity of long-term inflammation. The acute course of sarcoidosis is characterized by sudden onset, high inflammatory activity, and spontaneous regression within a few months in most cases. Unfortunately, no absolute measures for preventing sarcoidosis have been developed. However, since it's known to be associated with smoke, dust, and other negative external factors, it's advisable to avoid them. Due to the unknown etiology of sarcoidosis, the disease is still diagnosed by exclusion. In every second patient, the disease self-cures in its early stages without affecting life expectancy. The GCT team has extensive experience in conducting clinical trials focused on treating autoimmune diseases. Our experience in this field includes collaborating with leading medical institutions, pharmaceutical companies, and regulatory agencies. We have successfully managed numerous trials, from early-phase studies evaluating the safety and efficacy of novel therapies to late-phase trials. If you're interested in learning more about our experience in conducting clinical trials for autoimmune diseases, please don't hesitate to contact us at bd@gctrials.com. We look forward to discussing how we can support your research goals and contribute to the development of effective treatments for autoimmune conditions. https://lnkd.in/eYh4KSnv #GCT_awareness  #SarcoidosisAwarenessMonth #Sarcoidosis #AutoimmuneDiseases #GCT #GlobalClinicalTrials #CRO #clinicalresearch #drugdevelopment #medicine #pharma #clinicaltrials #clinicaltrial #gctrials #research 

🌟 Exciting News Alert! 🌟 According to The Business Research Company’s Rare Disease Diagnostics Global Market Report 2024, the rare disease diagnostics market is set to experience significant growth in the upcoming years. The market has demonstrated remarkable progress, expanding from $32.15 billion in 2023 to $35 billion in 2024, reflecting a noteworthy compound annual growth rate (CAGR) of 8.9%. This growth is fueled by various factors, including the growing demand for cloud-based diagnostics, increased focus on efficiency enhancement, and the rising prevalence of neurological and immunological disorders. Projections indicate continued strong growth in the rare disease diagnostics market, with estimates reaching $49.94 billion by 2028. This anticipated surge is driven by factors such as the escalating prevalence of rare diseases, government initiatives, the proliferation of hospitals and diagnostic laboratories, and the increasing incidence of hematology diseases. For those interested in delving deeper into this exciting market, I highly recommend checking out The Business Research Company's Rare Disease Diagnostics Global Market Report 2024. Stay informed, stay ahead! https://lnkd.in/eqKGUBTr 💼✨ #RareDisease #MarketInsights #BusinessResearch

🔬🌟 Today marks the rarest day of the year, making it the perfect occasion to raise awareness for Rare Disease Day! There are over 6000 identified rare diseases, and while each disease may affect only a small portion of the population individually, collectively they impact 1 in 17 people worldwide. Unfortunately, many rare diseases often go undiagnosed or have little to no treatment. Therefore, we felt compelled to highlight and celebrate the remarkable efforts of just a few (of the very many) healthcare and life science companies making a difference: 🔍 OGT’s solutions are at the forefront of rare disease research, profiling a range of mutations crucial to solving the puzzle of rare diseases. The company’s NGS, FISH and microarray products are designed for robust identification of the whole range of genomic variation and aim to enable researchers and clinical decision makers to reach the right decisions every time. 👶 Revvity has demonstrated huge commitment to early detection and intervention of rare diseases, with over 800 million babies screened globally using their systems. By facilitating early identification, Revvity's systems play a crucial role in enabling healthcare providers to implement timely interventions, and improve the outcomes and quality of life for countless individuals. 💊 Mereo BioPharma is a clinical-stage biopharmaceutical company focused on the development of innovative therapeutics for rare diseases. With a portfolio covering potential therapies for conditions like Osteogenesis Imperfecta and Alpha-1 Antitrypsin Deficiency-associated lung disease, they are addressing critical needs in these underserved patient populations. From clinical research to screening and therapeutics, these are just some of the many great companies playing a crucial part in advancing our understanding of rare disease, and ultimately enhancing the quality of life for individuals affected by rare diseases. Working together, we can all make a difference!🌟 #RareDiseaseDay #ShareYourColours #Research #Healthcare #RareDiseaseAwareness

Exciting times are ahead for those battling systemic lupus erythematosus (SLE) as UCB and Biogen unveil promising Phase 3 results for dapirolizumab pegol! This innovative anti-CD40L drug demonstrated significant efficacy in improving disease activity and boasts a favorable safety profile—two critical components for patients struggling with limited treatment options. What sets this trial apart? The use of the BICLA assessment, which holistically measures both improvement and flare-ups, showcases a more comprehensive approach to SLE management. With upcoming studies like PHOENYCS FLY slated for 2024, we could be on the brink of a paradigm shift in treatment. As we witness strides in autoimmune disease research, let’s continue pushing for solutions that truly address patient needs. It's time to bring hope to those affected by SLE. The future looks bright!

Through the #EMA's Priority Medicines scheme for medicines with the potential to address patients' unmet needs, and ahead of Rare Disease Day - Feb 29th 🦓 - EMA has approved two therapies for rare genetic life-threatening diseases. These therapies will address the unmet needs of patients suffering from Amyotrophic Lateral Sclerosis (#ALS) and Paroxysmal Nocturnal Hemoglobinuria (#PNH). With an annual rate of 1.9 cases per 100,000 and 1-2 cases per million, respectively, these diseases can be life-threatening. This is a significant step forward in the treatment of these rare diseases. #RareDiseaseDay https://lnkd.in/eGWHsN6X

🌟 New paper alert 🌟 Exploring the role of eosinophils in IBD! 🔬 #IBD #Eosinophils Read more: https://lnkd.in/eS3gvh3Y

Is it the right diagnosis? I wrote about this a couple of weeks ago. You feel ill, go to the doctor, get examined, take a blood test, and get a diagnosis. Then comes the treatment. It does not work for you, or you experience an adverse reaction. Back to the doctor, “Let’s try something else,” is his or her response. What if the exam process also involved a deep dive to look beyond symptoms, past temporal diagnostic markers and into the probabilities of success across different potential treatments? What if the probability for side effects could be predetermined instead of discovered through trial? This is part of precision medicine. This is where immunoproteomics dominates. Jaeyun Sung is an assistant professor at the Mayo clinic who has identified very distinct antibody profiles in patients with Rheumatoid Arthritis using the Sengenics protein microarray. The ramifications are huge, including patient stratification, improved diagnosis, more effective treatment options with fewer adverse events, and unique study groups to develop even better treatments. And while Dr. Sung examined autoimmune diseases, these same benefits can extend to diseases like cancer and Parkinson’s, diseases notoriously difficult to identify where an accurate diagnosis and stratification can make a substantial difference in outcomes for patients. Would you like to learn more? Join Dr. Sung’s Webinar next Tuesday, June 18 at 11AM EST: https://lnkd.in/eChyvaHn

🔬🌟 Exploring the Clinical Significance of the Anti-Nuclear Antibody (ANA) Test 🌟🔬 So for today being my first post for the month of June, let’s delve into a rare test known as the Anti-Nuclear Antibody (ANA) Test, a pivotal tool in the diagnosis and management of autoimmune diseases. Understanding the ANA Test: The ANA Test detects autoantibodies that target substances within the nucleus of a cell. These autoantibodies are often present in individuals with autoimmune conditions, where the body’s immune system mistakenly attacks its own tissues. Clinical Significance: 1.Diagnosis of Autoimmune Diseases: The ANA Test is crucial in diagnosing autoimmune diseases such as systemic lupus erythematosus (SLE), rheumatoid arthritis, scleroderma, and Sjögren’s syndrome. A positive ANA test indicates the presence of autoantibodies, suggesting an autoimmune process. 2.Evaluating Disease Activity: In patients with known autoimmune diseases, the ANA Test can help assess disease activity and monitor response to treatment. Fluctuations in ANA levels may correlate with disease flares or remission. Patient Impact and Clinical Considerations: 1.Early Detection and Diagnosis: The ANA Test enables early detection of autoimmune diseases, allowing for timely intervention and management to prevent disease progression and complications. 2.Guiding Treatment Decisions: By identifying the specific autoimmune condition, the ANA Test helps healthcare providers tailor treatment plans to the patient’s needs, optimizing therapeutic outcomes and improving quality of life. The Anti-Nuclear Antibody (ANA) Test is a vital diagnostic tool in the field of autoimmune diseases, providing critical insights for early detection, diagnosis, and management. ⚕️I’m Dennis Odoi empowering you to seize control of your health. ⚕️Follow along to join a community of like-minded commanders. ♻️ Repost to save a life #AutoimmuneDisease #ANATest #ClinicalSignificance #HealthcareInsights Day 153/366 Days