Researchers have identified two new rare genetic variants associated with polycystic ovary syndrome, which likely affect the CHEK2 gene. These variants may contribute to the condition's impact on fertility and metabolic disorders, offering a potential target for further investigation.
A study published by Sanford Burnham Prebys found unappreciated changes in brain cell types involving hundreds of thousands of never-before-seen RNAs in individuals with Down syndrome. This breakthrough provides new avenues for understanding both Down syndrome and Alzheimer's disease.
Researchers from the University of Maryland School of Medicine and NIH found that retinoid therapy improved vision in mice with Usher syndrome, a rare genetic disorder. The study identified key functions of protocadherin-15, which helps recycle molecules essential for eye tissue.
A gene therapy strategy has shown encouraging early results against Angelman syndrome, a neurodevelopmental disorder affecting approximately one in every 20,000 children. The therapy restores function of the UBE3A gene in neurons, preventing key signs of the condition and improving motor skill-learning and behaviors.
Research suggests that regular PSA testing from age 40 could detect life-threatening prostate cancer in men with genetic hallmarks of Lynch syndrome, increasing the chances of earlier diagnosis and treatment. Men with MSH2 gene faults were eight times more likely to be diagnosed with prostate cancer at a younger age.
A new study suggests that COVID-19 may trigger Guillain-Barré syndrome in some patients, particularly those over 50 years old. Researchers analyzed data from an international cohort of Guillain-Barré syndrome patients and found a strong association between COVID-19 infection and the development of the condition.
A new study published in the Lancet Haematology found that children with Down syndrome are more likely to develop aggressive forms of leukemia and have a poorer prognosis. The research also identified potential differences in treatment outcomes between children with and without Down syndrome.
Researchers estimate that up to 1.7% of the Japanese population may have undiagnosed Gitelman syndrome, a salt-wasting tubulopathy that affects kidney function and electrolyte balance. The condition can lead to fatigue, muscle weakness, and arrhythmia, but is often misdiagnosed or overlooked due to its subtle symptoms.
A new study found that the economic burden of caring for children with rare genetic disorders such as Fragile X syndrome and Chromosome 15 imprinting disorders is significant. Earlier diagnosis and targeted interventions could reduce yearly costs by up to $734, depending on the child's intellectual functioning.
Researchers at UCLA developed brain organoids that mimic human brain structure and function, allowing for the study of neurological disorders like Rett syndrome. The organoids showed organized waves of activity similar to those found in living brains and responded to treatment with an experimental drug.
Researchers have discovered elevated blood clotting markers in patients with Long COVID syndrome, which may contribute to their persistent symptoms. The study suggests that the clotting system may be involved in the root cause of Long COVID.
A study published in Journal of Internal Medicine found that 64.3% of adults with moderate chronic kidney disease also had metabolic syndrome, increasing their risk of premature death and cardiovascular problems. Patients with metabolic syndrome had a 26% higher risk of dying and a 48% higher risk of experiencing cardiovascular events.
A meta-analysis found that people with metabolic syndrome are 46% more likely to have a second stroke than those without, with low HDL cholesterol being an independent risk factor. Additionally, individuals with metabolic syndrome were 27% more likely to die during the study.
Researchers have discovered that the Usher syndrome type 1G protein SANS plays a crucial role in regulating splicing process, leading to errors in related genes and disease progression. The study aims to elucidate molecular basis of blindness in Usher syndrome patients.
Princess Margaret Scientists reveal a new target that suggests it can potentially prevent leukemia in children with Down syndrome. The study mapped out where and how leukemia begins and develops in infants with Down syndrome, paving the way for future prevention strategies.
A study by Kyushu University researchers found that deficiencies in key genes lead to an imbalance in neural stem cells, resulting in fewer neurons and more astrocytes. This imbalance disrupts brain function and leads to Rett syndrome symptoms.
A case of multisystem inflammatory syndrome in an adult who recovered from COVID-19 is reported, highlighting the importance of considering this rare but possible complication. Prompt treatment helped recover the patient. The authors suggest encouraging reporting of cases to facilitate research and improve outcomes.
A new study highlights the high risk of kidney failure and cardiovascular complications in patients with primary nephrotic syndrome, particularly those with focal segmental glomerulosclerosis. Adults with this condition are 19.63 times more likely to develop kidney failure over a median follow-up period of 4.5 years.
Scientists have discovered that the nitric oxide pathway is overactivated in Marfan Syndrome and causes aortic aneurysms. Inhibiting this pathway completely reverses the disease in a mouse model. The study identifies new therapeutic targets and markers for monitoring disease status.
A team of researchers identified a genetic mutation associated with exfoliation syndrome, the most common cause of glaucoma. The study found that people with exfoliation syndrome are twice as likely to carry damaging mutations in the CYP39A1 protein, which plays a crucial role in cholesterol processing.
Researchers describe a rare case of atrial flutter followed by supraventricular tachycardia in a newborn with Turner syndrome. The study highlights the need for early and precise investigation of cardiovascular rhythm disorders in infants and children with Turner syndrome.
A new test, expressive language sampling (ELS), has been validated as a reliable tool to measure communication development in youth with Down syndrome. The study found that ELS measures were generally valid and reliable across ages and IQ levels, demonstrating strong validity for vocabulary, syntax, and speech intelligibility variables.
A new study confirms that children with Down syndrome have a substantially increased risk of developing acute myeloid leukemia (AML) before age 5. The research found that 2.8% of children with Down syndrome were diagnosed with leukemia, compared to 0.05% of other children.
A new study by the Linda Crnic Institute for Down Syndrome identifies a higher-than-expected rate of clonal hematopoiesis in individuals with Down syndrome between the age of one to 20 years old. This precocious clonal hematopoiesis is linked to an increased risk of leukemia, with oncogenic mutations dominating the TET2 gene.
Researchers developed a smartphone game to screen for carpal tunnel syndrome using machine learning and anomaly detection. The game analyzes thumb movements and estimates the possibility of the disease with high accuracy, outperforming physical examinations by expert orthopedic surgeons.
Researchers found that early intensive training improved motor and memory skills in a mouse model of Rett syndrome, delaying symptom onset. The study proposes newborn genetic testing followed by training to help girls retain milestones and improve quality of life.
A mouse study suggests that intense behavioral training before symptoms develop can delay the onset of Rett syndrome, a devastating neurological disorder. The training improved memory loss and motor control decline in mice with the genetic disorder.
Endogenous Cushing's syndrome is associated with a threefold increase in death, primarily due to cardiovascular disease and infections. The study analyzed data from over 19,000 patients and found that mortality rates were lower after 2000, but still unacceptably high.
Two regions of DNA required for proper MECP2 expression have been identified in mice and humans, which could lead to new treatments for Rett Syndrome and MECP2 Duplication Syndrome. These discoveries provide hope for future treatments targeting these DNA regions.
A four-year federal grant of over $2 million is being awarded to Dr. Andrew Gewirtz at Georgia State University to investigate the role of inflammation and altered gut microbiota in the development of metabolic syndrome.
A study by Thomas Jefferson University found that 87% of incoming medical students reported imposter syndrome, a mental health challenge linked to depression, anxiety, and self-sabotage. The researchers suggest that supportive feedback, collaborative learning, and individual counseling can help alleviate imposter syndrome.
Research found that green tea supplements can reduce facial dysmorphology in children with Down syndrome, especially when administered during the first three years of life. The study also suggests that high doses may disrupt facial and bone development, highlighting the need for further research and caution.
A new study found adults with Down syndrome are roughly three times more likely to die from COVID-19 than the general population. The study's results have implications for preventive and clinical management of COVID-19 patients with Down syndrome, highlighting the need to prioritize individuals with this genetic condition for vaccination.
Scientists have devised a new method to detect and potentially treat two rare pediatric diseases, Beckwith-Wiedemann syndrome and Silver-Russell syndrome, by measuring IGF2 levels in amniotic fluid. Treatment with an FDA-approved cancer medication before birth has shown promise in normalizing fetal growth in mouse models.
Researchers found higher expression of genes critical for SARS-CoV-2 entry and immune response, increasing risk of severe illness and late-onset complications. People with Down syndrome may benefit from early vaccination to mitigate these risks.
Researchers at Mayo Clinic have developed the first hybrid gene therapy for treating long QT syndrome, a genetic heart rhythm condition. The therapy targets the KCNQ1 gene and has shown potential therapeutic efficacy in two in vitro model systems using beating heart cells reengineered from patient blood samples.
A novel taxonomic classification of rare congenital diseases with an impact on bone physiology has been established. The classification system groups disorders according to systemic disease, genetic defect, pathophysiology of bone phenotype, and therapy, providing a framework for diagnosis and treatment.
Researchers found that infection with Porphyromonas gingivalis causes skeletal muscle metabolic dysfunction, leading to insulin resistance and metabolic syndrome. The study also discovered a link between periodontal bacteria and altered gut microbiome, which contributes to the development of metabolic syndrome.
Research reveals significant microbial changes in women with polycystic ovary syndrome, associated with metabolic health. The study also found differences in microbiome profile between pre-diabetic and healthy women, shedding light on the causes of the condition.
Researchers identified a rare case where COVID-19 triggered a recurrence of Guillain-Barré Syndrome in a 54-year-old man with prior episodes, highlighting the need for closer observation in patients with autoimmune disorders. The study provides new insights into treating COVID-19 patients with nerve-targeting autoimmune disorders.
Scientists created brain organoids from patients with Rett syndrome to study the disease and identify potential treatments. The study found two drug candidates, Nefiracetam and PHA 543613, that restored calcium levels, neurotransmitter production, and electrical impulse activity in the organoids.
A new study by UC Davis MIND Institute finds a connection between gestational age and attention deficit/hyperactivity disorder (ADHD) symptoms in children with Down syndrome. Earlier gestational age was linked to increased ADHD symptoms later in childhood.
Scientists have discovered a breakthrough in understanding the enzyme responsible for producing fish odour syndrome. By stabilizing and inhibiting the CntA protein, researchers hope to develop new drugs that can target and reduce TMA formation in the gut microbiome.
Researchers found tau accumulation years before dementia symptoms appear in people with Down's syndrome, suggesting an early change. The study suggests potential for early prophylactic measures against tau accumulation to prevent Alzheimer pathology in childhood.
A study found that DSCR-1 suppresses oxidized LDL cholesterol production and angiogenic signaling, protecting against corneal opacity. High DSCR-1 expression also reduced vascular diseases such as atherosclerosis and hypertension.
Researchers found that apigenin improved cognitive and memory deficits in mice with Down syndrome-like characteristics, reducing inflammation and increasing brain growth. This study raises the possibility of a prenatal treatment to lessen cognitive deficits in fetuses diagnosed with Down syndrome through prenatal testing.
A multi-institutional team led by UCI researchers will expand research on biomarkers of Alzheimer's disease in adults with Down syndrome. The five-year, $109M grant aims to improve the quality of life of aging individuals with Down syndrome through advancing prevention and treatment strategies.
Researchers at UNC School of Medicine show that gene editing with CRISPR-Cas9 can restore function in an animal model of Angelman syndrome. The therapy was effective in restoring the UBE3A enzyme in human neurons and treating deficits in an animal model, offering a long-lasting treatment or cure for this debilitating disease.
Researchers have made a groundbreaking genetic discovery that sheds light on the cause of rare nerve disorders, including Rett syndrome. The study found two new mutations in the KIF1A gene to be responsible for these conditions.
The Murdoch Childrens Research Institute will establish a biobank of biological samples from people with Prader-Willi Syndrome and Angelman Syndrome, two rare genetic diseases affecting 1 in 15,000 people. The biobank will help researchers better understand the causes of these disorders and develop new treatments.
Researchers created a novel Drosophila-based disease model for Pitt-Hopkins syndrome (PTHS), which is caused by mutations in the TCF4 gene. The model reveals that certain substances can enhance learning and locomotor abilities in PTHS patients, suggesting potential therapeutic options.
A NIH-funded study identified neuronal abnormalities in cortical cells from individuals with 22q11.2 deletion syndrome, a genetic disorder associated with mental illnesses and developmental delays. The study suggests that overexpression of the DGCR8 gene and exposure to certain antipsychotic drugs can restore normal cellular functioning.
A new software program, Down Syndrome Clinic to You (DSC2U), has been shown to be effective in improving adherence to US national Down syndrome guidelines. DSC2U aggregates the clinical experience of specialists and connects patients' families with customized information to augment local care providers.
Scientists have identified new genes that are overexpressed in endothelial cells of people with Down syndrome, increasing their risk for leukemia. The study suggests these genes could be therapeutic targets for developing novel treatments and prevention strategies.
A nationwide study found that consuming even half a standard drink per day increases the risk of obesity and metabolic syndrome. The risk rises with alcohol intake, with men and women experiencing higher odds of obesity and metabolic syndrome when drinking more than half a standard drink per day.
A new investigational therapy has shown to prevent the onset of Dravet syndrome symptoms in a mouse model, increasing gene expression up to 100 percent in neurons. The treatment uses an antisense oligonucleotide (ASO) that is reversible and non-invasive.
A new online calculator developed by UVA Health System researchers can predict stroke risk in patients with metabolic syndrome. The tool, available for free, uses a scoring system to assess the severity of metabolic syndrome and identify patients at risk.
Research highlights the link between Alport syndrome genotype and treatment effectiveness with ACE inhibitors and RAS blockers, showing varied responses to treatment depending on mutation type and age of progression to end-stage kidney disease.
Scientists discovered genes with decreased expression in individuals with Down syndrome, which may also protect people from developing solid tumors. These findings could lead to the development of gene-targeted therapies for both people with Down syndrome and the general population.
A study found that two blood epigenetic signatures associated with ADNP syndrome have only modest correlation with clinical manifestations. Researchers conclude that these signatures should be carefully evaluated before being considered as biomarkers for predicting behavioral outcomes.