ACTA2 Alliance’s Post

WORLD SICKLE CELL DAY!! World Sickle Cell Day, observed annually on June 19th, raises awareness about sickle cell disease (SCD), a genetic disorder affecting millions worldwide. Designated by the United Nations in 2008, this day emphasizes the challenges faced by those living with SCD, as well as the urgent need for improved care, research, and treatment options. Sickle cell anemia, the most severe form of SCD, is characterized by the production of abnormal hemoglobin, causing red blood cells to become rigid, sticky, and sickle-shaped. These misshapen cells can block blood flow, leading to severe pain, infections, and organ damage. While prevalent in Africa, the Mediterranean, the Middle East, and India, the global movement aims to educate people everywhere about this condition. Prevention of sickle cell anemia primarily focuses on genetic counseling and screening. Genetic counseling provides prospective parents with information about the risks of having a child with SCD if they are carriers of the sickle cell trait. Screening programs, especially in regions with high prevalence, help identify carriers early. Prenatal screening and newborn screening are crucial for early diagnosis and intervention. Advancements in medical science offer hope. The development of gene therapy holds promise for curing SCD by correcting the defective gene responsible for the disorder. Additionally, pre-implantation genetic diagnosis (PGD) enables carriers to conceive children free from SCD through in vitro fertilization (IVF) by selecting embryos without the sickle cell gene. Education and advocacy are vital in the fight against sickle cell anemia. World Sickle Cell Day serves as a reminder of the collective effort needed to improve the lives of those affected and to work towards a future free from this debilitating disease. I have a friend who has sickle cell anemia and it really hurts seeing her go into crisis and struggle with bone pains and all sort of discomfort, especially back then in secondary school.... she's a fighter and I believe she'll pull through, I love her so much and I'm dedicating this write up to her and a million other fighters around the globe, to stay strong and keep fighting, there's a beautiful life ahead of you, warriors 💕✨ #worldsicklecellday #sicklecellanemia #fightsicklecell

Snippet 16 #Chromosomalmicroarray analysis (CMA) is a high-resolution #genetictesting method, crucial in clinical genetics and research. It comprehensively analyzes DNA to detect chromosomal imbalances, offering valuable insights into #geneticconditions. Chromosomal Microarray Analysis (CMA): 1. Technology Overview: CMA utilizes microarrays—glass slides or chips with numerous DNA probes binding to specific genome regions. Patient and reference DNA, labeled with different fluorescent dyes, are hybridized to the #microarray. Differences in DNA copy number are detected by the intensity of fluorescent signals. 2. #Applications : a. Detection of Copy Number Variations (CNVs): CMA is particularly effective in identifying submicroscopic chromosomal imbalances, known as copy number variations (CNVs). These CNVs can be associated with genetic disorders, #developmentaldelays, and #intellectualdisabilities. It provides higher resolution compared to conventional cytogenetic techniques like karyotyping, enabling the detection of smaller #geneticabnormalities. b. #PrenatalTesting: CMA is used in prenatal testing to identify chromosomal abnormalities in the fetus. It is especially valuable when #ultrasound or other #screening methods suggest a higher risk of genetic disorders. It allows for earlier and more accurate diagnosis of conditions such as #Downsyndrome, #Edwardssyndrome, and #Patausyndrome. c. #PostnatalDiagnostics CMA is employed in the diagnosis of individuals with developmental delays, intellectual disabilities, autism spectrum disorders, and other congenital abnormalities. It aids in identifying the genetic basis of a patient's clinical features, helping clinicians tailor treatment plans and provide appropriate genetic counseling. d. #CancerResearch In cancer research, CMA is used to identify genomic alterations associated with various types of cancer. It helps researchers understand the genetic basis of cancer, identify potential therapeutic targets, and develop personalized treatment strategies. e. Research in Rare Diseases: CMA plays a crucial role in researching rare genetic diseases, helping to uncover novel genetic variations and understand their implications on health. It aids in the discovery of new disease genes and provides insights into the molecular mechanisms underlying rare disorders. 3. #Advantages High Resolution: CMA offers higher resolution than traditional cytogenetic methods. Broad Spectrum: It can detect a wide range of genetic abnormalities. Early Diagnosis: Enables early diagnosis, facilitating timely interventions and appropriate patient management. 4. #Challenges Variants of Unknown Significance (VUS): Interpretation of some findings, especially rare or novel variants, may pose challenges. Ethical Considerations: Identification of incidental findings may raise ethical dilemmas that require careful consideration. https://lnkd.in/gMnYgnwH

💜 Community Talks: Karina 💜 💥 When diagnosis don't justify all symptoms “Daniel had 4 brain surgeries after his diagnosis of Moyamoya in 2001. He was having blood clots and we were advised to have the revascularization surgery so the brain could get better blood flow. Back then, the neurosurgeon who operated on Daniel said to us that Daniel’s MRI didn’t show a typical Moyamoya image. We had to wait 6-7 years to finally get the diagnosis of Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS). I felt relief with MSMDS including all of Daniel’s symptoms that Moyamoya couldn’t explain. Daniel was one of the firsts to be diagnosed with MSMDS and at that time not much was known about the disease. But it gave me reassurance that the doctors could now keep a close eye on Daniel and compare the results with other patients they could have so all of us together could gain greater knowledge in this disease.” 🧠 MSMDS or Moyamoya? Patients affected by MSMDS with Moyamoya-like disease present a lack of basal collateral vessels and abnormally straight cerebral vessels. Patients with MSMDS have an increased risk of perioperative stroke and usually suffer issues when anaesthesia or sedation are required in medical procedures. 🙌 Understanding MSMDS MSMDS is an incurable multisystemic disease affecting the brain, blood vessels, heart, aorta, lungs, liver, kidneys, bladder, eyes, and other body parts with smooth muscle cells. There are only 60 diagnosed patients worldwide, mostly children. 💚 The Hope of Gene Therapy Gene therapy research in Boston offers hope for MSMDS patients. With your support, we can bring life-changing treatments to those affected by this ultra-rare disease. https://lnkd.in/edkSR9Cy #ActByAct #MSMDS #GeneTherapy #MSMDSAwarenessDay #PatientStory #RareDiseaseAwareness #Moyamoya #moyamoyadisease #MoyamoyaAwareness #Revascularization #brainsurgery #brainsurgerysurvivor #genetherapy

World Sickle Cell Awareness Day Hope Through Progress: Advancing Care Globally Did you know that nearly 5% of the world’s population carries genes responsible for hemoglobin disorders, including sickle cell disease (SCD)?. Today is World Sickle Cell Awareness Day, a time to illuminate the impact of sickle cell disease (SCD) on millions worldwide. Let's dive into the key aspects of this genetic disorder and the advancements being made to combat it. What is Sickle Cell Disease? Sickle cell anemia is a genetically inherited disorder of the hemoglobin in red blood cells (RBCs). Hemoglobin, the protein in RBCs, transports oxygen throughout the body. SCD causes red blood cells to become rigid, sticky, and shaped like sickles or crescent moons, leading to various health complications. 🔍The Trait and Gene Variation Hemoglobin Genes: The normal gene is called the hemoglobin A gene, while the abnormal sickle cell gene is the hemoglobin S gene. Inheritance: If both parents have sickle cell trait (carrying one hemoglobin S gene), there’s a 25% chance of having a child with two normal hemoglobin A genes and a 25% chance of having a child with SCD (two hemoglobin S genes). Diagnosis Early diagnosis is crucial for managing SCD. Greenarray's Newborn Screening Panel includes markers for detecting SCD, ensuring early intervention. Other diagnostic methods include hemoglobin electrophoresis and genetic testing. Sickle Cell Statistics in India Approximately 18 million people in India carry the sickle cell trait. Nearly 1.2 million people are affected by SCD in India. Certain regions and communities show higher prevalence rates, highlighting the need for targeted awareness and intervention programs. 💊Treatment While there is no universal cure, treatments can alleviate symptoms and prevent complications: Medication: Pain relievers, hydroxyurea, and antibiotics. Blood Transfusions: To increase the number of normal red blood cells. Bone Marrow Transplants: The only potential cure, though it's not suitable for everyone. Gene Therapy: An emerging treatment showing promise for the future. 🌟Hope Through Progress: Advancements in research and global awareness are paving the way for better care and treatments. Let's unite in supporting those affected by SCD and advocating for continued progress. Together, we can make a difference! #WorldSickleCellDay #HopeThroughProgress #SickleCellAwareness #GlobalHealth #AdvancingCare #Greenarray #SickleCell #InheritedDisease #Awareness #Today

Lung diseases, from viral infections to cancers, find a new research ally in lung organoids & on-a-chip models. Discover more: https://lnkd.in/gUd37FS5 #Organoid #Lung

MoglingBio wins further funding from Kizoo to accelerate hematopoietic stem cell and immune system rejuvenation Wilmington, Delaware, US Nov 6, 2023   Mogling Bio, a biotech startup company developing molecules to treat age related diseases by rejuvenating hematopoietic stem cells as well as immune cells, is thrilled to announce that Kizoo has significantly increased their investment in the company.   This additional funding provides MoglingBio with the resources to accelerate product development towards the clinic. Kizoo recognized the company's exceptional potential and helped to establish Mogling Bio in 2022.   Juergen Reess, CEO of Mogling Bio, acknowledged Kizoo's continued support, saying, "This increased investment from Kizoo is a testament to the strength of our vision and the dedication of our team.”   Patrick Burgermeister, Partner at Kizoo and board member at Mogling Bio expressed Kizoo´s enthusiasm for the expanded partnership, stating that “We believe that MoglingBio’s technology is groundbreaking by truly rejuvenating old stem cells – not only alleviating age-related diseases, but reversing age-related decline in immune system function”.   About Mogling Bio: MoglingBio Inc. is developing new pharmacological approaches to rejuvenate old stem cells of the hematopoietic (blood cell formation) system. Aging causes stem cells to lose their normal structure by increased activity of the protein CDC42. This loss of structure leads to decreased production and quality of blood and immune cells. It can cause leukemia, various blood diseases, and severely weaken the immune system. Normalizing CDC42 activity can restore structure, order and functionality in those aged stem cells. Treated cells can perform their tasks again in a juvenile way, and thereby contribute to both, the rejuvenation of stem cells and the immune system.   For more information please visit: www.moglingbio.com     About Kizoo: Kizoo provides seed and follow-on financing with a focus on rejuvenation biotech. Having been entrepreneurs, VC, and mentors in both high-growth tech and biotech companies ourselves for many years with multiple exits and massive value created for the founders, Kizoo now brings this experience to the emerging field of rejuvenation biotech. We see it as a young industry that will eventually outgrow today's largest technology markets.   As part of Michael Greve's Forever Healthy Group, Kizoo directly supports the creation of startups turning research on the root causes of aging into therapies and services for human application. Investments include Cellvie, Cyclarity, Revel Pharmaceuticals, Elastrin Therapeutics, Mogling Bio, and others.   For more information, please visit: kizoo.com For media inquiries, please contact: Juergen Reess MoglingBio Juergenreess@moglingbio.com +49 178 290 5580

𝐖𝐡𝐲 𝐝𝐨𝐞𝐬 𝐭𝐡𝐞 𝐬𝐢𝐳𝐞 𝐨𝐟 𝐭𝐡𝐞 𝐜𝐚𝐩𝐬 𝐨𝐟 𝐲𝐨𝐮𝐫 𝐜𝐡𝐫𝐨𝐦𝐨𝐬𝐨𝐦𝐞𝐬 𝐦𝐚𝐭𝐭𝐞𝐫? 𝐋𝐞𝐭'𝐬 𝐭𝐞𝐥𝐨𝐦𝐞𝐫𝐚𝐭𝐞 𝐨𝐧 𝐭𝐡𝐢𝐬 𝐚 𝐛𝐢𝐭. What are telomeres? Let's recap & delve into a bit of background. Telomeres serve as the terminal caps of your linear chromosomes. Specialized proteins envelop telomeric DNA—shielding it from potential damage repair processes—while the enzyme telomerase works to maintain its structure. In humans—telomeres consist of repetitive (TTAGGG) sequences recognized by shelterin—a protein complex that binds to both DNA & RNA. Telomerase counteracts telomere depletion post-replication. Yet, its efficacy is constrained in somatic cells—leading to gradual shortening of telomeres over successive cell divisions. When telomeres reach a critically short length or lose their protective covering—they activate a DNA damage response. In simpler terms—telomeres act as nucleoprotein structures—safeguarding & maintaining the ends of your chromosomes. There are still theories suggesting that the shortening of telomeres contributes to human aging. Consequently, a layperson might hypothesize that if we find a method to halt this shortening—effectively protecting the telomeres of our cells—we could theoretically achieve immortality. That sounds great, but I must disappoint you. Currently, we not only lack understanding of the mechanisms for regulating telomere length, but we also do not know the optimal telomere length. This uncertainty stems from the fact that short telomeres are associated with age-related diseases, while long telomeres predispose individuals to cancer. But that dilemma was a thing of the past. A recent article in Science provides us with a tool & some hints to address these unresolved questions in biology. 𝐇𝐢𝐠𝐡𝐥𝐢𝐠𝐡𝐭𝐬: ・Scientists developed a nanopore-based method—Telomere Profiling—to determine telomere length at nearly single nucleotide resolution. ・Mapping telomere reads to chromosome ends revealed chromosome end–specific length distributions—which could vary by more than six kilobases. ・Telomere lengths in 147 individuals indicated that certain chromosome ends were consistently longer or shorter. ・The same rank order was observed in newborn cord blood—suggesting that telomere length is established at birth & maintained as telomeres shorten with age. ・Telomere Profiling facilitates precise investigation of telomere length, making it widely accessible for laboratory, clinical, & drug discovery efforts, & enabling deeper insights into telomere biology. ~~~ Thank you so much for reading. Wish to learn more? Hit the 𝐅𝐨𝐥𝐥𝐨𝐰 [👥👋🏼]—you'll never miss out on the latest 𝐄𝐩𝐢𝐠𝐞𝐧𝐞𝐭𝐢𝐜 news 🎯! Give it a like [👍🏼] or share [🕊️] the post to spread this Epi-message 💌. I'm 𝐃𝐚𝐦𝐢𝐚𝐧, & I talk about: #precisionmedicine #epigenetics #genomics #singlecell #genetics #science #health —Always be on top of your DNA 🔝⏳🧬!

A pilot study is being launched in Lombardy to screen neonates for metachromatic leukodystrophy (MLD), a serious neurodegenerative disease of genetic origin. The 30-month project will involve 100,000 newborns to validate a test for diagnosing this disease before symptoms appear. The Telethon Foundation, thanks to an agreement with the Buzzi Children's Hospital Foundation, will promote the study, which will be coordinated by the Vittore Buzzi Children's Hospital in Milan. MLD is a neurodegenerative disease caused by mutations in a gene that cause substances called sulfatides to accumulate in the brain and in other parts of the body. In the most acute forms, children lose their abilities to walk, talk, and interact. Children affected by this disease only have palliative care available, and most of them die in childhood. Gene therapy for MLD, developed thanks to the work of researchers at the San Raffaele-Telethon Institute (SR-TIGET) in Milan directed by Luigi Naldini, was approved in the European Union at the end of 2020 and in Italy, it is reimbursed by the service national healthcare. It has been shown to preserve motor function and cognitive abilities in patients through a single infusion. However, it must be administered promptly. Therefore, it is recommended in children who present late infantile forms without yet having manifested the clinical signs of the disease or, if in the presence of a juvenile-early form, present the first clinical symptoms but with excellent motor and cognitive abilities. Neonatal screening is one of the main preventive medicine projects. It involves a test performed on a blood sample taken from the heel of the newborn in the first three days of life. The test allows the early identification of various genetic metabolic diseases in order to adopt a dietary or pharmacological treatment. The San Raffaele-Telethon Institute for Gene Therapy (SR-Tiget), currently directed by Luigi Naldini, was founded in 1995 as a joint venture between the San Raffaele Hospital and the Telethon Foundation to develop basic, preclinical, and clinical research on genetic diseases. SR-Tiget is today an international point of reference for advanced therapies. In fact, the first gene therapy with stem cells for ADA SCID was developed here. It has become an available drug, and others are being developed in collaboration with international pharmaceutical companies. #Dubai #UAE #abudhabi #dha #health #grupposandonato #healthcare #mohap #saudi #ehsuae #gsd_healthcare #GSDHealthcare #hospitals #innovation #doh #research #leukodystrophy #صحة #ج_س_د_هيلثكير #وقاية #تميز #دبي #ابوظبي #السعودية #الصحة #مستشفى #ايطاليا #مجموعة_سان_دوناتو

🌟 Decoding Genetics: A Vital Aspect of Breast Health 🧬 In pursuing comprehensive patient care, let's explore an essential aspect of breast health - genetics. Understanding the genetic component is crucial, and as healthcare professionals, we must shed light on this topic. 🌺 👩⚕️ Our genetic makeup can significantly influence breast health. From BRCA gene mutations to family history, genetics can provide vital insights for early detection and prevention. Let's unravel this complex web. 🌈 💡 Here's the thought-provoking question for our discussion: How do you integrate genetic information into your breast health consultations to empower patients and their families in managing risk? 🤔 Some facts: 1. BRCA Gene Mutations: BRCA1 and BRCA2 gene mutations significantly increase the risk of breast cancer. Individuals with these mutations are more likely to develop the disease during their lifetime. 2. Hereditary Risk: A family history of breast cancer, especially in close relatives like parents or siblings, can indicate a hereditary risk. Genetic counselling and testing can help assess this risk. 3. Genetic Testing: Advances in genetic testing allow individuals to determine their genetic predisposition to breast cancer. This information can guide personalised risk management and prevention strategies. 4. Non-hereditary Genetic Factors: While BRCA mutations are well-known, many other genetic factors can influence breast cancer risk. Research continues to uncover these complexities. 5. Precision Medicine: Understanding the genetic profile of a patient's breast cancer can help tailor treatment approaches. Targeted therapies are increasingly used to address specific genetic characteristics of tumours, improving outcomes. These facts highlight genetics's pivotal role in breast health, from risk assessment to personalised treatment options. #BreastHealth #GeneticsInHealthcare #HealthcareProfessionals #EmpoweringPatients #UnderstandingGenetics #Mammographer #Radiologist

World Sickle Cell Awareness Day Hope Through Progress: Advancing Care Globally Did you know that nearly 5% of the world’s population carries genes responsible for hemoglobin disorders, including sickle cell disease (SCD)?. Today is World Sickle Cell Awareness Day, a time to illuminate the impact of sickle cell disease (SCD) on millions worldwide. Let's dive into the key aspects of this genetic disorder and the advancements being made to combat it. What is Sickle Cell Disease? Sickle cell anemia is a genetically inherited disorder of the hemoglobin in red blood cells (RBCs). Hemoglobin, the protein in RBCs, transports oxygen throughout the body. SCD causes red blood cells to become rigid, sticky, and shaped like sickles or crescent moons, leading to various health complications. 🔍The Trait and Gene Variation Hemoglobin Genes: The normal gene is called the hemoglobin A gene, while the abnormal sickle cell gene is the hemoglobin S gene. Inheritance: If both parents have sickle cell trait (carrying one hemoglobin S gene), there’s a 25% chance of having a child with two normal hemoglobin A genes and a 25% chance of having a child with SCD (two hemoglobin S genes). Diagnosis Early diagnosis is crucial for managing SCD. Greenarray's Newborn Screening Panel includes markers for detecting SCD, ensuring early intervention. Other diagnostic methods include hemoglobin electrophoresis and genetic testing. Sickle Cell Statistics in India Approximately 18 million people in India carry the sickle cell trait. Nearly 1.2 million people are affected by SCD in India. Certain regions and communities show higher prevalence rates, highlighting the need for targeted awareness and intervention programs. 💊Treatment While there is no universal cure, treatments can alleviate symptoms and prevent complications: Medication: Pain relievers, hydroxyurea, and antibiotics. Blood Transfusions: To increase the number of normal red blood cells. Bone Marrow Transplants: The only potential cure, though it's not suitable for everyone. Gene Therapy: An emerging treatment showing promise for the future. 🌟Hope Through Progress:  Advancements in research and global awareness are paving the way for better care and treatments. Let's unite in supporting those affected by SCD and advocating for continued progress. Together, we can make a difference! 💪❤️ #WorldSickleCellDay #HopeThroughProgress #SickleCellAwareness #GlobalHealth #AdvancingCare #Greenarray #SickleCell #InheritedDisease #Awareness #Today Greenarray Genomics Research and Solutions Dr. sarjan shah Dr. Preeti Arora Atul Mahadik Sreeja Parthasarathy Shruti Jawale Sharvari Ozalkar Pradnya Nikam Ketaki Rajwade