BioMarin Pharmaceutical Inc.的动态

?? Exciting strides in the realm of pediatric rare diseases are illuminating paths of hope across all 50 states, thanks to newborn screening initiatives! ???? A remarkable update from my dear friend and beacon of brilliance in healthcare, Afshan Hussain , truly underscores the impact of these advancements. **Afshan, whom I've had the privilege of knowing and even working with for over 15 years, embodies the essence of brilliance, dedication and compassion in her work. ?? ?? Deciding to start a family comes with its set of challenges, especially for carriers of #rarediseases. But imagine the possibilities if we could treat these conditions in utero. This isn't just a thought experiment; it's becoming a reality. Dr. Tippi MacKenzie's inspiring success story shared at #worldsymposium about young IOPD patient Ayla, who thrived thanks to in utero transfusions, is a beacon of hope. Ayla's journey, from a family history marked by loss to a life of normal motor and cardiac function, illustrates the profound potential of scientific innovation. ?? ?? These groundbreaking procedures, currently being tested for IOPD and other genetic disorders like SMA, are redefining what's possible in medical science and family planning for those affected by genetic diseases. ?? Every update from Afshan reminds me of the incredible human spirit that drives our quest for betterment, especially in the field of rare and orphan diseases. Her relentless pursuit to make a #meaningfuldifference is a source of constant inspiration. ?? I encourage everyone in my network to connect with Afshan and learn how we can support her mission in transforming care for rare diseases. Let's join hands in supporting this noble cause and help bring these dreams of betterment to fruition. Together, we can make a difference! ?? #RareDiseaseAwareness #InnovativeTreatment #HealthcareHeroes #SupportRareDiseaseResearch

https://lnkd.in/dxKSc85W A guide to breast awareness and screening:

?? Today, on World Hemophilia Day, we stand together to raise awareness and support for those living with hemophilia and other bleeding disorders. At Progenics Genomic Laboratories, we are committed to advancing healthcare through cutting-edge technology. Our advanced carrier screening techniques empower individuals to understand their genetic makeup, including the carrier status for hemophilia and other inherited conditions. We are proud to unveil our latest infographic shedding light on the importance of early detection and proactive management in hemophilia care. Together, let's continue to strive for a world where everyone affected by hemophilia receives the support and care they deserve. This Infographic shedding light on the genetic aspects of hemophilia and the crucial role of genetic counseling. Empowering individuals and families with knowledge is key to managing this condition effectively. Understanding the genetic underpinnings of hemophilia not only improves treatment outcomes but also paves the way for informed family planning decisions. Through genetic counseling, we can navigate the complexities of inheritance and reduce the risk of passing on this condition to future generations. Let's also remember the profound impact bleeding disorders can have on pregnancy. By recognizing the connection between hemophilia and miscarriages, we underscore the importance of comprehensive care for individuals and couples planning to start a family. Together, let's advocate for increased access to genetic testing, counseling, and support services, ensuring that everyone affected by hemophilia can live their lives to the fullest. #WorldHemophiliaDay #Progenics #HealthcareInnovation #GeneticScreening #Infographic #AwarenessCampaign

Cervical cancer is caused by human papillomavirus (HPV) and is a significant global health concern. While it rarely affects women below 20 years of age, it is frequently diagnosed among women between the age group of 30 and 45. It's cervical cancer awareness month, here's a comprehensive read about the disease by Nishtha Kathuria https://lnkd.in/dkkkQ5UH #askclinik #monday #cervicalcancer #cervicalcancerawareness #cervicalcancerprevention

By making breast health a priority in reproductive, maternal, and adolescent services, we empower women with the knowledge to detect cancer early and take proactive steps to safeguard their health. This holistic approach strengthens our fight against breast cancer while improving overall health outcomes for women, children, and families. #BreastCancerAwarenessMonth #BreastCancerAwareness #EarlyDetectionSavesLives #PSKenya #BetterHealthandWellbeing #RMNCAH

?? October is Breast Cancer Awareness Month ?? In many traditional settings, discussing reproductive health can feel like a taboo. Women and men often hesitate to seek help for what we consider private matters, making it challenging to address issues when they arise. This October, let’s change that narrative. Early detection saves lives, and it’s time we normalize conversations about our health. ?? Let’s encourage one another to get tested and share our experiences. Together, we can create a supportive community that empowers women to prioritize their health. Join the movement. Support breast cancer awareness, and let’s lift each other up. Your voice matters, and so does your health. #BreastCancerAwareness #PinkOctober #SupportEachOther

We've been updating a number of resources on our website with the aim of giving families faced with a diagnosis of Trisomy 13 or Trisomy 18 more information. Families have told us that being equipped with the right information, whether that is factual, or lived family stories, has been key in helping them through their own journey. Knowledge is power. #trisomy #trisomy13 #trisomy18 https://lnkd.in/ev25KdK4

Preserving Fertility in the Face of Ovarian Cancer: A Beacon of Hope Ovarian cancer is a life-altering diagnosis, but for women who dream of building a family in the future, the emotional toll can be even greater. While the primary focus is on fighting the disease, it’s crucial to remember that fertility preservation is an option that should be discussed early in the treatment process. As a fertility specialist, I've witnessed the remarkable advancements that allow women to protect their fertility while battling ovarian cancer. Techniques like egg or embryo freezing, ovarian tissue preservation, and tailored surgical approaches can make future family-building a reality. Every woman deserves the chance to choose her path, even in the face of such a challenging diagnosis. Let’s raise awareness and advocate for discussions on fertility preservation as an essential part of ovarian cancer care. ?? #FertilityPreservation #OvarianCancerAwareness #WomenHealth #Oncofertility #InfertilitySpecialist

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Why We Need $5 Million to Continue Developing the Life-Saving Gene Therapy to Cure TECPR2, a Rare, Fatal, Pediatric, Genetic Brain Disease??? ??Early Therapeutic Development of Viral Vector: $100,000 ??Pre-Clinical Research of Testing the AAV Efficacy and Safety in Mice: $500,000 ??Toxicology: Before Testing in Humans, We Test in Rats Under FDA Guidelines: $500,000-$750,000 ??GMP Vector Production: Cost $2 Million to $4 Million ??Trial Design and Clinical Trial: $1 Million #GeneTherapy #RareDisease #Neurodegenerative #VentureCapital #PrivateEquity #Philanthropy #Brain Looking for Funders, Industry Partners, Investors, & Philanthropists to Join: SavingJordan.org ??