Mendelian’s Post

Weekly Rare Update People living with a rare disease in the UK face daunting hurdles: lengthy delays to diagnosis, few or no treatment options, and inequitable access to care they need. Whilst measures are being taken to improve health equity for this community, there is more to be done. Last week, on Rare Disease Day 2024, I've contributed to the Guardian Rare Disease supplement discussing on how AI offers hope to streamline diagnosis including the work undertaken with Mendelian, and how policy reforms and collaborative efforts are crucial to improve the pathway for patients with rare diseases. I firmly believe that through advances in technology, and through multidisciplinary collaboration, we can find solutions and effect positive change for the people living with rare diseases.   #RareDisease #RareDiseaseDay Alexion Pharmaceuticals, Inc.

According to the European Organization for Rare Diseases (EURORDIS) there are over 300 million people living with one or more of over 6,000 identified rare diseases around the world. This is equivalent to the population of the world’s third largest country. With Rare Disease day this year falling on 29th February, the rarest day of the year, there is an opportunity to reflect on what still needs to be done to ensure equity in access to diagnostics and treatments for rare diseases. In this blog, my colleague & Deallus Rare Disease expert Hormoz M. reflects on the great advances we have seen over the past 20 years in driving new treatment options within rare diseases. #rarediseaseday #rarediseaseawareness #healthequity

Today is Rare Disease Day, and in honor of it, the House Energy and Commerce Committee will hold a hearing to discuss more than a dozen bills that offer support to patients. Among those bills are the ORPHAN Cures Act and the BENEFIT Act. While both are good first steps, more must be done. CAHC's latest blog examines how Congress could create real change by amending the Inflation Reduction Act's unfair treatment of orphan drugs, leading to more treatments for rare diseases. Learn more: https://lnkd.in/ec-rF_vQ #rarediseaseday #rarediseaseweek #RareDC2024 #orphandrugs #inflationreductionact #congress #legislation

Today, February 29th, is Rare Disease Day, raising awareness for the hundreds of million people living with a rare disease. Read our latest blog, 'Rare Diseases, Pharma’s Perennial Hitmaker' here: https://lnkd.in/eHaRfiRP   Over its 20 year history, Deallus has supporting the clinical development, market access, commercialisation and advancement of 100+ rare diseases. We recognise that there is still more to be done with only about 5% of the 10,000 rare diseases recognised by the NIH’s Genetic and Rare Disease (GARD) Information Centre having approved medicines.   Hormoz M., one of our Rare Diseases experts, has written a blog reflecting on how rare diseases drug development will be commonplace within the industry, and how Deallus is supporting pharma organisations and committed to supporting drug development in this area. You can read the blog here: https://lnkd.in/eHaRfiRP #rarediseaseday2024 #rarediseases #healthcareinequality #thoughtleadership #blog #expertise #orphandrugs #fdaapproval #commitmenttochange #drugdevelopment

Great insights from Ted W. Love, MD outlining the dampening effects of the Medicare Drug Price Negotiation Program on the research and development pipeline for rare disease treatments. As he says, “It's hard to believe the IRA's architects actually intended to derail research into rare diseases. Yet that's exactly what's happening. Lawmakers can reverse course and correct the problem by passing the #ORPHANCuresAct.” We agree. The #ORPHANCuresAct is a bipartisan path forward and we look forward to engaging with Congress this year on this important issue. #RareDiseases #RareDiseaseInnovation #SaveRareTreatments Dr. Love’s thoughts: https://lnkd.in/gTk8tHeJ About the #ORPHANCuresAct: https://lnkd.in/g2uMreQD

Today is the #RareDiseaseDay, an international effort to raise awareness of challenges of rare diseases which affect around 300 million people around the world. One such challenge is patients´ early access to affordable and effective treatments. 💡 A new publication, with IHE researcher among the authors, discusses the use of real-world evidence (#RWE) to support #HTA decisions for rare disease treatments. The authors focus on key elements of RWE such as study design and analyses. They also suggest how we can overcome some of the major challenges with RWE. Read more and download publication 👇 https://lnkd.in/e72qcxSq

#UnmetMedicalNeed - don't turn the lights off   Imagine suffering from a disease that can severely impact your ability to live a normal life, that make everyday life choices more difficult. This disease is called (episodic) #migraine, impacts 41 million patients in Europe, and despite existing treatments, many patients are still hoping for new treatments due to the unmet medical need.   The European Commission proposes in its pharmaceutical package a definition to direct research into areas of unmet medical need. While the intent is positive, this definition is very narrow. And there's a risk that this precise and narrow definition may put the spotlight on some disease, e.g. those that are life threatening and seriously debilitating, while other diseases would stay in the dark. Other diseases could include those where there is still a very real unmet medical need -- such as migraines.   Don't just take my word for it. This interview with a migraine patient leader is most insightful. If a definition of unmet medical need doesn't work for patients, who does it work for? If a definition of unmet medical need doesn’t keep the spotlight on all the unmet medical need, is it going to achieve its objective? --> https://lnkd.in/e8Hr_X3X

While rare diseases affect a minority, the reverberations of neglecting them echo through society with monumental force. The cost of approved therapies might seem exorbitant, but it pales in comparison to the staggering burden imposed by untreated rare diseases. A profound shift in perspective is required to recognize that addressing these diseases isn't just a medical or moral imperative; it's an economic one. By embracing a collaborative and empathetic approach, we not only alleviate individual suffering but also pave the way for a more resilient and equitable society. The realization that untreated rare diseases inflict far-reaching economic ramifications highlights the urgency of collective action. A symbiotic partnership between industry, government, healthcare bodies, and society is imperative to tackle this burgeoning public health crisis. As evidenced by the encouraging policy proposals and programs, there is momentum building toward addressing rare diseases comprehensively. Enhanced investment, streamlined drug development processes, and inclusive engagement with patients can usher in a new era of medical innovation. By redirecting funds and resources to align with the societal impact of these conditions, we can forge a path where the convergence of compassion and economic prudence becomes the driving force behind progress, ultimately enriching both lives and the overall well-being of society. #RareDiseases #Healthcare #Diseases

Registration is open! This is an opportunity for patients and the wider rare disease community to share their perspectives with the FDA. When you register for the meeting, you are invited to submit your questions and topics for discussion. What are your priority topics to share with the FDA? #raredisease, #patientengagement, #clinicaltrials

Every day and on #RareDiseaseDay, we stand united with the global rare disease community to shorten the diagnostic odyssey for rare disease patients. Spanning nearly five years – and sometimes longer – this diagnostic journey takes an emotional and financial toll on patients, families and caregivers. It also places a steep economic burden on healthcare systems. Yet, screening and diagnostic tools that could help have largely been out of reach for many rare disease patients. By expanding access to newborn screenings and next-generation sequencing, we have the potential to accelerate diagnosis and treatment.    That’s why Alexion Pharmaceuticals, Inc., AstraZeneca Rare Disease, champions policies that broaden access to screening tools where this testing could have life-changing outcomes—especially for children, because one of two patients diagnosed with a rare disease is a child.    Learn more about Alexion’s efforts to help improve health equity and accelerate diagnosis in rare diseases: https://lnkd.in/e5xtA_SY