Key Proteo, Inc.’s Post

Expanded genomic newborn screening era: 3.7 % is a huge number. All of them actionable diseases(!) Most of them are not yet included in newborn screening due to no biomarker curently detectable in dry blood spots. -- "In this study of 4000 newborns, 72.0% of approached families consented to participate. Genome sequencing was successfully completed for 99.6% of participants. The screen-positive rate in a predefined gene panel was 3.7%. Sequencing of 156 early-onset genetic conditions with established interventions selected by the investigators were screened in all participants and 99 neurodevelopmental disorders associated with seizures were optional" #newbornscreening #NBS #novorozeneckyscreening #PANDA #repromeda #repromedalab

Genomic screening as valuable tool !!!

Utility of newborn whole genome sequencing in detecting actionable mutations early has been demonstrated.

Recently, I had the pleasure of discussing the vision, approach, and progress of the Screen4Care project with its scientific Coordinator, Prof. Alessandra Ferlini, and its Principal Investigator, Dr. Enrico Bertini, at the Ospedale Pediatrico Bambino Gesù in Rome, one of the leading pediatric medical centers in Europe. Diagnosis is the first critical step, enabling one to take action on a disease. Early diagnosis can differentiate between poor health outcomes and manageable symptoms. A significant number of Rare Diseases have a genetic origin and could, therefore, be easily detected through sequencing technologies. However, today, only <1% of RDs are screened at birth. The Screen4Care consortium developed a panel of 245 treatable genetic conditions, representing a >10x increase in the number of conditions routinely screened for on average in EU countries. This panel will be used in a pilot study with ~20.000 newborns. Learn more in the link below! #Screen4Care #NGS #NewbornScreening #Diagnosis #Nextgenerationsequencing #Roche #RareDiseases #GeneTherapy #AdvancedTherapies International Consortium on Newborn Sequencing (ICoNS)

In our latest blog, we celebrate World Pediatric Bone and Joint Day by diving into Genomenon's Curation Scientist II, Jessica Farmer Bugarin's inspiring journey of navigating the complexities of receiving an accurate diagnosis for osteogenesis imperfecta (OI), a rare genetic disorder affecting bone health. Jessica shares her experiences, emphasizing the significance of her family medical history in uncovering her diagnosis. She discusses the numerous challenges and frustrations she encountered while seeking answers, providing valuable insights into the process. Additionally, she offers advice for others on how to advocate for themselves during their diagnostic odyssey. 🔗 Read the full interview to discover Jessica’s insights and the vital role of patient advocacy: https://lnkd.in/gcJPPAQ5 🧬 Create your Mastermind account and explore valuable variant insights and gene-disease associations that could help guide you through the diagnostic journey: https://lnkd.in/g7c_Fzs #WorldPediatricBoneAndJointDay #PatientAdvocacy #Genetics #OsteogenesisImperfecta #Healthcare #GeneticTesting #HealthAwareness #PersonalJourney #Genomenon #MastermindGIP

Our paper was chosen as Cover Story of the current issue of the International Journal of Neonatal Screening! We and other experts on Inherited Metabolic Disease (IMD) utilized a Delphi Survey to formulate some statements concerning the Wilson and Jungner (W&J) criterion ‘Treatability’ in the context of newborn screening (NBS). Ten statements were formulated and applied. The results suggest that a transparent Delphi study with a clear consensus is a suitable method for establishing a scoring system for Treatability. However, this study also showed the complexity of eligibility assessment for NBS, indicating that the evaluation of other interrelated W&J criteria is essential as well. The study is an initial step in the process of selecting disorders for NBS, particularly if genetic screening methods are introduced as first tier and more IMDs are technically eligible for inclusion. With Abigail Veldman, francjan van spronsen, Rebecca Heiner-Fokkema and many other contributors. https://lnkd.in/eQzqPdTE #metaboleziekten, #neonatalscreening

Today is a great day to send a (prepopulated but editable) message to your local representatives to call for support for H.R. 3876/ S. 2323, the “Access to Genetic Counselor Servuces Act”. Genetic Counselors are Master’s level educated healthcare professionals who counsel patients on genetic testing options and implications which are offered for a multitude of reasons : hereditary cancer, hereditary cardiac conditions, prenatal genetic screening, hereditary neurological conditions, pediatric genetic disorders and more. Currently we are not recognized as providers by Medicare which has limited the ability of clinics/counselors to bill for services, often leaving health systems unable to support the need for our services. Almost every person knows somebody who has been affected by a condition or disease that warrants genetic counseling. As recognition of this field expands, access to care becomes more and more important. https://lnkd.in/eM5uBd3C

𝗔𝗻𝗱𝗿𝗲𝗮 𝗙𝗿𝗮𝘁𝘁𝗮, Germana Nardini, gabriele saccone, 𝗘𝗹𝗶𝘀𝗮𝗯𝗲𝘁𝘁𝗮 𝗚𝗿𝗮𝗴𝗻𝗮𝗻𝗼, 𝗠𝗮𝗿𝘁𝗮 𝗤𝘂𝗮𝗱𝗿𝗶𝗻𝗼, 𝗠𝗮𝗿𝗶𝗮 𝗚𝗮𝗯𝗿𝗶𝗲𝗹𝗹𝗮 𝗗𝗲 𝗟𝘂𝗰𝗮 and 𝗠𝗮𝗿𝗶𝗮𝘃𝗶𝘁𝘁𝗼𝗿𝗶𝗮 𝗟𝗼𝗰𝗰𝗶 reported a case of early post-natal diagnosis of 𝗳𝗮𝗺𝗶𝗹𝗶𝗮𝗹 𝗧𝘂𝗯𝗲𝗿𝗼𝘂𝘀 𝗦𝗰𝗹𝗲𝗿𝗼𝘀𝗶𝘀 𝗖𝗼𝗺𝗽𝗹𝗲𝘅 (TSC). Tuberous Sclerosis Complex (TSC) is a multisystemic neurocutaneous quite rare genetic disease with autosomal dominant #inheritance. It is characterized by #hamartomas that affect multiple organs, in particular skin, central #nervous system, #heart, #lungs and #kidney. 𝗘𝗮𝗿𝗹𝘆 𝗱𝗶𝗮𝗴𝗻𝗼𝘀𝗶𝘀 𝗶𝘀 𝘃𝗲𝗿𝘆 𝘂𝗻𝗰𝗼𝗺𝗺𝗼𝗻, given few cases published in literature. In our patients, early diagnosis has been performed by using early 𝗽𝗼𝘀𝘁𝗻𝗮𝘁𝗮𝗹 𝘂𝗹𝘁𝗿𝗮𝘀𝗼𝘂𝗻𝗱 𝘀𝗰𝗿𝗲𝗲𝗻𝗶𝗻𝗴, without a prenatal diagnosis.

Today is September 30th! We're focusing on Limb-Girdle Muscular Dystrophy (LGMD). 🟢What You Need to Know About LGMD🟢: LGMD is a group of rare genetic disorders that cause muscle weakness, particularly in the hips and shoulders. With over 30 subtypes, LGMD affects approximately 1.63 in every 100,000 people worldwide. 📌 Who Does it Affect? LGMD impacts both men and women equally. Symptoms can appear in childhood, young adulthood, or even later in life. 📌 Muscles Most Affected: Shoulders, upper arms, hips, and thighs. In some cases, the heart and breathing muscles can also be affected. 📌 What Causes It? LGMD is caused by mutations in genes that produce proteins essential for muscle function. Genetic testing can confirm diagnosis and identify the specific mutation. 📌 Is There a Cure? While there’s no cure yet, supportive therapies can improve the quality of life for those with LGMD. Clinical trials are currently underway for certain forms of the disease. 📌 How Can You Help? Raising awareness and fostering a supportive community is crucial to improving the lives of those with LGMD. Join us in spreading awareness and making a difference today! 💚 #EAMDA #StrongerTogether #LgmdAwareness #lgmdday2024 #Neuromuscular #NMD #PersonsLivingWithNMD

Glioblastoma is a devastating disease that affects individuals of all ages and backgrounds, comprising nearly half of all primary malignant brain tumors. Despite being identified in the 1920s, treatment options remain severely limited, with only four FDA-approved drugs available. The causes of GBM are still largely unknown, but factors like chemical exposure, genetic predispositions, and prior head radiation may heighten the risk. Raising awareness is crucial to driving research, improving treatment outcomes, and supporting those affected by this relentless disease. Let's collaborate to advocate for more funding, research, and support for GBM patients and their families. #GlioblastomaAwareness #Braintumour #awareness #glioblastomawarrior #medicalcare #CFANPC #webinar #centralflorida #education #nursecommunity #healthcare