A multi-center international study published in NEJM found that performing hematopoietic cell transplants shortly after detecting high-risk features in patients with Shwachman-Diamond Syndrome significantly improves survival rates. The study analyzed 847 cases and found that survival appeared to improve when early HCT treatment occurre...
A study in mice with Rett syndrome found altered pubertal development and hormonal regulation, affecting social behavior, cognition, and muscle-skeletal health. The MECP2 gene mutation disrupts the hypothalamus-pituitary-gonadal axis, leading to delayed puberty, low hormone levels, and neuroendocrine alterations.
The Louisa Gross Horwitz Prize recognizes Dr. Huda Zoghbi and Dr. Adrian Bird for their groundbreaking work on epigenetic regulation in the nervous system. Their discoveries have led to new treatments for Rett syndrome, a severe neurodevelopmental disorder that affects girls and has previously been considered untreatable.
Adrian Bird and Huda Zoghbi's groundbreaking work on epigenetics in neurological diseases has reshaped scientists' understanding of brain disease. Their discoveries have inspired international efforts to develop genetic therapies for devastating conditions like Rett syndrome.
University of Connecticut researchers found that Rett syndrome symptoms are caused by a lack of dopamine in the carotid body, leading to unstable breathing. This discovery may lead to new treatments for Rett syndrome and other diseases involving dopamine imbalance.
Researchers have developed a biomarker score called BioTAK to identify broken-heart syndrome, which affects postmenopausal women and is triggered by emotional or physical stress. The score uses blood biomarkers to distinguish the condition from a heart attack, providing new insights into disease mechanisms.
Uwe Wolfrum's research on Usher syndrome aims to prevent vision loss in patients with the disorder. His team uses human retinal organoids and pig models to investigate the molecular mechanisms of the disease, paving the way for gene-based therapies.
A new study found that nearly 8 out of 10 young adult participants had cardiovascular-kidney-metabolic syndrome, with early signs of arterial injury. The study suggests promoting the American Heart Association's Life's Essential 8 early in life to improve cardiovascular health.
Research highlights the impact of skewed XCI on disease severity and identifies potential therapeutic approaches, including reactivating genes on the inactive X chromosome. Emerging techniques to measure XCI patterns hold promise for personalized therapies.
Researchers at the University of Colorado Anschutz Linda Crnic Institute discovered unique biological processes altered among individuals with Down syndrome who have different sets of co-occurring conditions. The findings mark an important step toward personalized treatment, enabling future targeted therapies and improved health outcomes.
A new study by Mount Sinai researchers has estimated that Phelan-McDermid syndrome affects approximately 13.7 cases per 100,000 people, equivalent to about 1 in 7,300 individuals. The condition is a rare genetic disorder caused by deletion or mutation of the SHANK3 gene and often co-occurs with autism spectrum disorder.
This cohort study found that TCM syndrome differentiation-based treatment improved clinical outcomes and reduced TCM symptom scores in patients with post-COVID-19 syndrome. The study showed favorable efficacy across subgroups, with a higher effective rate in the treatment group compared to the control group.
Researchers found that Down syndrome is associated with low saliva production and gum disease due to calcium signaling dysfunction and changes in the oral microbiome. The study suggests that addressing underlying biological factors and improving oral hygiene may help alleviate these issues.
A multi-omics study identifies the TNF-α/IL-1β/PGE₂ axis as a driver of mucus overproduction and colonic lesion formation in Cronkhite–Canada syndrome. The study reveals extensive epithelial remodeling, goblet cell hyperplasia, and an inflammatory colonic epithelial cell subset characterized by high expression of lipocalin-2.
Researchers at Texas Children's Hospital identified a set of dysfunctional genes and specific cell types that are vulnerable to genetic changes in female mice modeling Rett syndrome before symptoms appear. They found that even healthy cells with normal MECP2 gene had changes in gene activity due to neighboring defective cells.
A study by Baylor College of Medicine researchers identifies a set of dysfunctional genes and specific cell types that are vulnerable early on to genetic changes in Rett syndrome. The research reveals that even healthy cells can be influenced by their environment, contributing to widespread brain dysfunction in the disease.
The new clinical guideline identifies excess weight, especially in the abdomen, as a key driver for cardiovascular-kidney-metabolic syndrome. Nearly 9 in 10 adults in the US have at least one condition within this syndrome, which includes high blood pressure, abnormal cholesterol and metabolic conditions like diabetes and obesity.
The JTMF Foundation has expanded its footprint with a $3.3 million gift to fund three main initiatives: identifying early signs of Alzheimer's in adults with Down syndrome, expanding access to cutting-edge clinical research, and developing best-practice guidelines.
Researchers found that Demodex mite overgrowth and heightened innate immune activity are hallmark drivers of rosacea but not sensitive skin syndrome. Sensitive skin syndrome has its own unique mechanisms, characterized by distinct biomarkers such as reduced cathelicidin and dermcidin levels.
Researchers at the UC Davis MIND Institute found that polychlorinated biphenyls (PCBs) alter genes more in females than males, with a key gene called XIST playing a protective role. Folic acid also shows promise in mitigating harmful effects of PCB exposure, particularly in women.
A new study published in Circulation: Population Health and Outcomes journal links cardiovascular-kidney-metabolic syndrome to a higher risk of developing cancer. The study found that individuals with advanced heart, kidney, and metabolic disease face a sharper increase in cancer risk only in the later stages of CKM syndrome.
Researchers at UCLA mapped how Down syndrome disrupts prenatal neuron development, leading to cognitive and sensory processing differences. The study found altered developmental sequences and cell populations that may contribute to the condition's effects.
Researchers from the Salk Institute found that astrocytes play a crucial role in fragile X syndrome symptoms. Correcting dysregulations in star-shaped brain cells improved some symptoms, including reduced seizures and restored molecular balances in a mouse model of FXS. The study validates the importance of studying astrocytes in FXS r...
A new study by MIT researchers uses advanced human cell cultures to model Rett syndrome, revealing distinct abnormalities caused by two different mutations of the MECP2 gene. The findings suggest that correcting key differences made by each mutation requires different treatments, paving the way for personalized therapies.
A new blood-based biomarker has been discovered to help identify individuals at higher risk of developing cancer in people with Lynch Syndrome. The biomarker uses immune signatures detected in blood samples to provide unique characteristics that can detect cancer risk, allowing for early detection and personalized surveillance.
The University of Chicago and IDefine are partnering to develop a potential therapeutic strategy for Kleefstra syndrome, a rare disorder caused by EHMT1 gene haploinsufficiency. The project aims to restore essential protein levels in the brain using programmable RNA therapy.
The Linda and Mike Mussallem Foundation has donated to USC's Keck School of Medicine to enhance clinical trials for individuals with Down syndrome at risk for Alzheimer's. This will increase domestic and international sites, accelerating the development of treatments specifically for this population.
Phase 1/2a clinical trials demonstrate significant seizure reduction and improvement in symptoms of Dravet syndrome, a genetic disorder affecting cognitive function, motor skills, and behavior. The treatment, zorevunersen, targets the underlying cause of the disease by enhancing the normal SCN1A gene.
Researchers at Baylor College of Medicine have identified a potential therapeutic strategy for Rett syndrome by guiding brain cells to produce more functional MeCP2 protein. The approach, which involves deleting a specific ingredient from the gene that produces the protein, has shown promise in mice and cells derived from patients with...
Researchers have found that increasing mutant MeCP2 protein levels can improve symptoms in mice and cells from patients with Rett syndrome. The approach, which guides brain cells to skip a specific ingredient, has shown promise in treating the rare neurodevelopmental disorder.
The King Center for Lynch Syndrome will advance research, outreach, education, and patient care for Lynch syndrome, a hereditary condition affecting 1 in 279 individuals. The center will provide cutting-edge research, life-long comprehensive care, and increased awareness for patients and families affected by Lynch syndrome.
MIT neuroscientists have found that two genetic mutations causing Rett syndrome compromise the structural integrity of developing blood vessels, leading to leaky vessels. Overexpression of miRNA-126-3p is responsible for the vascular defect, which can be rescued by reducing the miRNA's levels.
Alpha-gal syndrome is a growing concern in Missouri and beyond, causing delayed symptoms such as hives, stomach pain, and severe throat swelling. Mizzou researchers and MU Extension are working together to educate the public about alpha-gal syndrome and provide resources for those affected.
Research at the University of Colorado Anschutz Linda Crnic Institute found significant alterations in liver metabolism among individuals with Down syndrome, including elevated bile acids and biomarkers of liver dysfunction. The study suggests that dietary interventions may help improve health outcomes.
Researchers found that NOUS-209 safely stimulated the immune system to target precancerous and cancerous cells in individuals with Lynch Syndrome, providing early evidence of its potential to intercept cancer before it develops. The vaccine-induced T cells were able to kill tumor cells and showed signs of long-lasting immune memory.
A new study found that light intensity activities, such as walking or household chores, were associated with a lower risk of death for people with CKM syndrome. The researchers used data from the National Health and Nutrition Examination Survey to compare activity level duration for each CKM syndrome stage.
A new study reveals the emotional challenges faced by siblings of people with Prader-Willi syndrome, including feelings of stress, loneliness, and sadness. Siblings often take on extra responsibilities at home and struggle to cope with their brother or sister's behavior and hunger.
A study published in Alzheimer's & Dementia found that long-term pharmacological treatment improves memory alterations and inflammation in mice models for Down syndrome. The treatment targets the CB1 receptor, which is involved in neuronal connections and memory, and shows positive results even when age-related neurodegeneration is added.
Researchers are conducting a 5-year study to understand how children with Down syndrome develop expressive communication skills, including gestures, sounds, and spoken words. The team aims to create a personalized guide for families and professionals to provide tailored support.
A randomized clinical trial has shown that rituximab is effective in preventing relapses and reducing the need for corticosteroids in adults with relapsing nephrotic syndrome. The study involved 66 adult patients treated with either rituximab or a placebo, with impressive results at the 49-week follow-up.
Researchers at Gladstone Institutes discover a gene called HMGN1 that disrupts DNA packaging and regulation, leading to heart malformations in people with Down syndrome. Removing the extra copy of HMGN1 from mice with Down syndrome prevents heart defects, paving the way for potential treatments.
A new large-scale study found that women who experience early natural menopause have a significantly higher risk of developing metabolic syndrome compared to those with later menopause. The study, which analyzed data from over 234,000 women, revealed an increased relative risk of 27% for women experiencing early menopause.
Scientists found a promising candidate, pleiotrophin, which is essential for brain development and function; restoring it may improve brain circuits in individuals with Down syndrome and other neurological diseases. The study's findings suggest using modified viruses to deliver the protein directly into cells could lead to new treatments.
Researchers found that over 30% of children referred for Alport syndrome testing at age 3 already required therapeutic intervention, highlighting the potential benefits of early detection. The study suggests introducing a urine testing system may enable intervention before kidney dysfunction onset.
A study by researchers at the University of São Paulo identified high levels of neuroinflammation in young individuals with Down syndrome, contributing to the high prevalence of Alzheimer's disease. The discovery paves the way for disease prevention strategies and personalized treatments.
Researchers mapped physiological differences in individuals with Down syndrome across the lifespan, identifying unique effects of trisomy 21 on childhood, adolescence, and adulthood. The study highlights the need for personalized medicine tailored to different life stages.
Adults with both conditions are just as likely to work, volunteer, and experience quality of life as those with Down Syndrome alone. They reported higher rates of employment and volunteer participation despite having more neurologic problems.
Researchers have identified a new therapeutic target, ABHD18, which can restore mitochondrial health and improve heart function in preclinical models of Barth syndrome. By blocking this gene, the body can bypass the problem caused by the faulty TAFAZZIN gene, offering a potential path to targeted therapies.
CURE GABA-A and Grann Pharmaceuticals partner to advance mRNA lipid nanoparticle therapies for Rett Syndrome and other rare neurodevelopmental disorders caused by GABAAR variants. The partnership aims to accelerate clinical trials and deliver transformative therapies to families affected by these conditions.
Researchers discovered a significant association between metabolic syndrome and an increased risk of Parkinson's disease. The study found that people with metabolic syndrome were about 40% more likely to develop the disease than those without it.
Researchers from the University of South Australia have identified a potential early warning system for Takotsubo syndrome in ICU patients using electrocardiogram patterns and blood markers. Critical care nurses with advanced ECG skills can play a key role in recognising early signs of the condition.
A study found that expectant mothers are often left to navigate decisions on prenatal screening for Down syndrome without sufficient information or emotional support. The research highlights the need for a national pathway to support families and provide clear information about screenings.
A recent UC Irvine study reveals that women with Down syndrome exhibit advanced signs of Alzheimer's disease at the same average age of diagnosis as men. The research highlights the need for sex-specific approaches in treating Alzheimer's, particularly in clinical trials.
Researchers found the treatment to be safe in all 29 children, with no serious adverse events. The device showed striking reductions in sleep apnea events, with over 95% of children achieving an OAHI reduction of more than 50%. This study provides hope for parents and offers implications for FDA approval and future trials.
A study published in Clinical Gastroenterology and Hepatology found that around one in five people with Lynch syndrome develop a second colon cancer over an average of 7.9 years. The risk depends on the genetic subtype, with changes in MLH1 or MSH2 genes increasing the likelihood of a second tumor.
Researchers at UC Davis Health developed a promising gene therapy that could treat Rett syndrome by reactivating healthy but silent genes responsible for this rare disorder. The therapy showed impressive results in female mouse models of Rett syndrome, with treated mice living longer and showing better movement and cognition.
Researchers at the University of Arizona Health Sciences will use a precision medicine approach to increase the effectiveness of sleep apnea treatment in people with Down syndrome. The study aims to evaluate the combination of two medications, atomoxetine and oxybutynin, for OSA in individuals with Down syndrome.
Researchers at the Wyss Institute have identified vorinostat as a promising treatment for Rett Syndrome using an AI-driven drug discovery process and innovative disease modeling. The findings demonstrate disease-modifying abilities across multiple tissues, offering hope for a potentially curative treatment.
Researchers have discovered an oral drug called MA-5 that can improve both heart and muscle problems in patients with Barth syndrome, a rare genetic disorder. The drug boosts cellular energy production by up to 50% and protects cells from oxidative stress-induced death, addressing the underlying cause of the disease.
The drug QTX153 has shown significant promise in preclinical models of Rett syndrome, reversing symptoms such as motor control and neuronal function. The compound efficiently crosses the blood-brain barrier, demonstrating safety even at high doses.