Institute for Rare Diseases’ Post

Did you know? LCA was first identified by the German ophthalmologist Theodor Leber in 1869, it has since been studied extensively, bringing hope for better understanding and treatment. Over the years, advancements in genetics and ophthalmology have shed light on the complex mechanisms underlying LCA. With the discovery of various genetic mutations associated with the condition, researchers have made significant strides in developing targeted therapies and gene therapies aimed at restoring vision. Hope in Focus is dedicated to raising awareness and supporting research efforts to combat LCA and other retinal diseases. Together, let's continue spreading hope and empowering those affected by vision loss. More about LCA : https://loom.ly/gs7sJ1Y Information regarding LCA's History: https://loom.ly/AZyKq5Y # LCA #LeberCongenitalAmaurosis #HopeInFocus #HIF #FunFacts

#DYK GRIN-related disorders can result in #epilepsy, developmental delays, and intellectual disabilities. GRIN-related disorders are a family of rare, genetically defined, pediatric neurodevelopmental disorders caused by mutations in a group of genes known as “GRIN” genes that include GRIN1, GRIN2A, GRIN2B or GRIN2D genes. To learn more about these GRIN-related disorders, visit https://lnkd.in/eR4akwmc

🚨This month, the Leiden Center for Growth Disorders published two papers, together with our collaborators: We analyzed 42 children with unexplained severe short stature from Turkish consanguineous families, and solved the puzzle in 76% of them. Numerous novel variants were found, published phenotypes extended, and even a new syndrome uncovered. 👉🏻 https://lnkd.in/e53be_sh Also, we published a detailed description of nine patients with pathogenic heterozygous deletions in the IGF1 gene, to establish the full phenotype of this obscure disease, and the long-term effect of growth hormone treatment. 👉🏻 https://lnkd.in/eCgwVyQZ

Australians with the country’s most common genetic disorder now have access to the world’s first cloud-based patent registry. QIMR Berghofer Medical Research Institute Deputy Director Professor Grant Ramm said people with haemochromatosis could join the registry aimed at advancing research and understanding of the potentially life-threatening, inherited iron-overload condition. Professor Ramm said the new Australian Haemochromatosis Registry would be an important national and global resource for clinicians and researchers, designed to improve therapeutic treatments and outcomes for people affected by the country’s most common genetic disorder. “This registry will, in time, provide a substantial resource of de-identified clinical information and patient data that will help accelerate research and drive new discoveries against haemochromatosis, a condition affecting so many Australians,” Professor Ramm said. QUT (Queensland University of Technology) researcher Professor Nathan Subramaniam said increased iron accumulation was increasingly associated with many clinical conditions besides liver disease, including cancer and neurodegenerative disease. “This important resource will be instrumental for Australian scientists and clinicians to perform ground-breaking research, not only into haemochromatosis but also associated diseases,” Professor Subramaniam said. https://lnkd.in/gSgUtSxf #research #genetics #newsreel

Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes #RareDisease #Genetics They defined the clinical features, molecular spectrum, and DNAm signature of the KMT2C-related NDD and demonstrate they are distinct from Kleefstra and Kabuki syndromes highlighting the need to rename this condition. https://lnkd.in/duRw8Duz

This month, we are shining a spotlight on Rett syndrome and providing free access to variant insights for its key causative gene, MECP2. Rett syndrome is a rare neurological disorder that primarily affects young girls, leading to severe cognitive, motor, and communication impairments.  Variants in the MECP2 gene disrupt critical processes in brain development, impacting the ability to walk, speak, and use purposeful hand movements. Early diagnosis and access to precise genetic insights are essential for advancing personalized care and improving patient outcomes. As part of our broader December initiative, we are also offering free variant insights for genes linked to other rare diseases, including Marfan syndrome (FBN1), Ehlers-Danlos syndrome (COL3A1), Fanconi anemia (FANCM), Bloom syndrome (BLM), Infantile Neuroaxonal Dystrophy (PLA2G6), Loeys-Dietz syndrome (SMAD3), Maple Syrup Urine Disease (DBT), Hereditary Hemorrhagic Telangiectasia (ACVRL1), and Bardet-Biedl syndrome (C8ORF37). 🔎 The variant content will be available to all Mastermind users, and anyone can create a free Mastermind account here: https://lnkd.in/g7c_Fzs Learn more about ways to raise awareness from the Rett Syndrome Research Trust 🫶 #RareDiseaseAwareness #RettSyndrome #GenomicResearch #PrecisionMedicine #Genomenon #Mastermind #RareDiseases

Pediatric #Cardiomyopathy is a chronic disease of the heart muscle that affects the ability of the heart to effectively pump blood throughout the body. This September, support the Children's Cardiomyopathy Foundation in recognizing Children’s Cardiomyopathy Awareness Month. Together, we’re shining a light on this complex, rare, and potentially life-threatening disease. We are committed to working closely with patients, medical professionals, and the scientific community to bring renewed hope to patients and their families as we seek gene therapy cures for those affected by devastating genetic diseases. Learn more about our ongoing clinical trials in Danon disease and PKP2-arrhythmogenic cardiomyopathy (ACM): https://lnkd.in/ez42wgbj. #GeneTherapy #RareDiseases #CCAM

Case Study: Genetic Insights into Polycystic Kidney Disease (PKD) Polycystic Kidney Disease (PKD) is a prevalent hereditary condition characterized by the development of numerous cysts in the kidneys, often leading to progressive renal failure. Early detection and precise diagnosis are critical to managing the disease, as PKD is frequently asymptomatic in its initial stages. A patient presenting with a family history of kidney disease and early signs of hypertension was referred for advanced genetic analysis. Traditional diagnostic methods had failed to provide a conclusive result. Through a comprehensive genetic testing approach, pathogenic variants in the PKD1 gene were identified, confirming the diagnosis and enabling personalized management strategies to slow disease progression. At Dhiti Omics, we leverage state-of-the-art molecular diagnostics to address challenging nephritic conditions like PKD. Our advanced genetic solutions not only provide accurate diagnoses but also empower clinicians with actionable insights for personalized treatment plans. By focusing on precision and innovation, Dhiti Omics is committed to transforming patient care, offering hope to individuals and families affected by complex kidney disorders. #PolycysticKidneyDisease #PKD #GeneticTesting #MolecularDiagnostics #Nephrology #PrecisionMedicine #RenalHealth #DhitiOmics #HealthcareInnovation #PersonalizedCare

Parkinson’s disease genes Using linkage analysis,authors identified a new genetic mutation for Parkinson’s disease called RAB32 Ser71Arg. This mutation was linked to parkinsonism in three families and found in 13 other people in several countries, including Canada, France, Germany, Italy, Poland, Turkey, Tunisia, the U.S. and the U.K. Although the affected individuals and families originate from many parts of the world, they share an identical fragment of chromosome 6 that contains RAB32 Ser71Arg. This suggests these patients are all related to the same person; ancestrally, they are distant cousins. It also suggests there are many more cousins to identify. With further analysis, we found RAB32 Ser71Arg interacts with several proteins previously linked to early- and late-onset parkinsonism as well as nonfamilial Parkinson’s disease. The RAB32 Ser71Arg variant also causes similar dysfunction within cells.

Rare disease in focus : Homocystinuria, a rare autosomal recessive disorder with a global prevalence of 1 in 200,000 to 300,000 live births, is primarily caused by mutations in the CBS gene. This leads to elevated homocysteine levels, contributing to various complications such as cardiovascular disease, osteoporosis, and neurological impairments often unsuspected, uninvestigated and undiagnosed. This presentation focuses on the genetic causes of homocystinuria and its association with significant disease conditions, offering insights into the disorder’s impact and management. Team MEDGENOME and Medical Dialogues for the platform and opportunity! #homocystinuria #Rarediseases #moleculardiagnostics #medicalgenetics