Research on inherited diseases and their causes. Covers RNA therapies, hidden diabetes subtypes, pulmonary disease, and prenatal genetic testing.
A study has identified a molecular pathway controlling TFEB activity, revealing new druggable targets for therapies in rare genetic diseases, cancer, and disorders linked to lysosomal dysfunction. Lysosomal stress triggers TFEB activation, which boosts cellular recycling and adapts to stress.
A $7.6 million NIH grant will advance understanding of polyaminopathies, a group of rare genetic disorders affecting neurodevelopmental presentations. The grant will help identify new approaches to molecular diagnosis and care, as well as train the next generation of rare disease researchers.
A novel autologous gene therapy for Wiskott-Aldrich syndrome has demonstrated durable clinical benefits in a phase 3 study, with 96% survival at 1 and 5 years. The treatment, etu-cel, has also reduced severe infections and moderate-to-severe bleeding events.
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 new study by UC Berkeley researchers suggests that hyperreactive astrocytes are a primary driver of childhood epilepsy, particularly in the inherited disorder tuberous sclerosis complex. The findings highlight possible therapies to reduce inflammation and alleviate seizures, challenging the traditional view that neurons are the sole ...
Researchers have made incremental progress in understanding hypermobile Ehlers-Danlos Syndrome, a genetic disorder characterized by unstable joints and chronic pain. Studies have revealed correlations between hormone levels and symptom severity, as well as the relationship between hypermobile individuals and sleep apnea.
Researchers identified a previously unrecognized form of inherited retinal degeneration caused by a specific EFEMP1 gene variant, primarily affecting peripheral retina and rod photoreceptors. The disease can begin before visible retinal damage and may go undetected for a considerable period due to relatively preserved central vision.
Researchers at the University of Toronto have developed a next-generation RNA therapeutic approach that can treat a wide range of genetic diseases by helping cells read through premature stop signals. The approach, centered on transfer RNA, has shown promise in laboratory and preclinical models of cystic fibrosis, and may be combined w...
Researchers developed a genetic risk score to analyze risk of type 1 diabetes in patients with MODY, identifying 16% with atypical type 1 diabetes. The score, now adopted as part of NHS testing, provides a diagnosis for patients with negative MODY tests.
Researchers have developed a machine learning model that can help clinicians assess uncertain variants in prenatal genetic testing, providing more accurate diagnoses and clearer information for families. The approach uses tissue-agnostic episignatures to overcome limitations in epigenetic testing.
A new review highlights how molecular biology advances are reframing PAH as a complex vascular remodeling disease driven by endothelial dysfunction, chronic inflammation, metabolic dysregulation, and genetic susceptibility. Emerging therapies target the BMP/TGF-β pathway, growth factor signaling, and inflammatory pathways.
Katherine Wilemon, Family Heart Foundation CEO, receives Honorary Fellow Award from ASPC for her advocacy and research efforts in inherited lipid disorders. The award reflects the organization's impact on advancing care and awareness for conditions like familial hypercholesterolemia.
A study by Dawood Darbar and colleagues found that rare genetic mutations converge with common genetic variants to disrupt the heart's electrical activity, leading to early-onset atrial fibrillation. This additive effect amplifies the risk of stroke and other cardiovascular complications.
Researchers discovered a small mutation in the RBM20 protein leads to vastly different disorders in heart muscle cells. The study identified molecular targets for patient-specific therapies and potential new active substances.
A phase 3 trial found that deramiocel, a heart-derived cellular therapy, slowed muscle weakening and preserved heart function in boys and young men with advanced Duchenne muscular dystrophy. The therapy also showed promise in reducing scarring in the heart.
New national standards recommend earlier screening and lifelong monitoring for development and cognition in individuals with SCD, aiming to reduce variability in care. The guidance, developed in collaboration with Children's Colorado, provides a tiered approach to care, including surveillance and evaluation.
The IOF Musculoskeletal Rare Diseases Training Course bridges latest scientific advances with current clinical guidance, covering disorders-specific programs. Clinicians can access high-quality educational content at their own pace to deepen expertise in rare skeletal conditions diagnosis and management.
A new study published in the Journal of Inherited Metabolic Disease found that high-dose niacin therapy can improve survival outcomes in children with NAXD deficiency, a rare genetic disorder. The treatment has been shown to halt significant deterioration and reduce life-threatening complications.
Scientists have discovered a new approach to treating genetic brain disorders by redirecting brain development. The therapy helps at-risk neurons grow and connect more normally, strengthening connections among existing neurons and restoring cognitive function.
A study on La Brea Tar Pits fossils found rare spinal nerve tumors and developmental abnormalities, suggesting a dwindling species was in poor genetic health. This may have made them more vulnerable to hunting, ultimately contributing to their extinction.
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.
Researchers have identified a widespread source of error in a popular genome study method and created a machine-learning tool to correct it. PATTY uses machine learning to reduce artifacts while preserving real signals in noisy data, giving researchers a clearer view of gene activity control.
Researchers found subtle patterns in brain activity while children listened to speech linked to verbal communication abilities in autistic youths. Altered brain signals suggested the brain may process speech less efficiently, with noisier signals associated with lower scores on everyday verbal communication.
Researchers analyzed genetic data from almost 100,000 people across eleven world regions, identifying regional differences in gene variants GBA1 and LRRK2. This study is crucial for globally equitable diagnostics and therapies as it highlights the need to consider ancestry when diagnosing Parkinson's disease.
The study demonstrated sustained improvements in disease features in mouse models with effects lasting throughout their lifespan. Genespire's approach has the potential to translate into human health as a single-administration treatment for patients with MMA.
A USC interdisciplinary team has identified a promising pathway to turn off brain inflammation before it does its damage, increasing the risk of late-onset Alzheimer's. The Norman and Mary Pattiz Foundation funding will support research on novel drug discovery, early detection, and prevention of Alzheimer's disease.
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.
The study reveals how genetic mutations disrupt muscle signaling in CMS, a family of genetic disorders that weaken communication between nerves and muscles. Researchers identified promising new therapeutic opportunities, including a potential use for an existing antidepressant.
Researchers developed zebrafish model that reproduces key features of CADASIL, a hereditary disease causing brain damage and recurrent strokes. The study found progressive decline in cerebral blood flow and impaired learning ability, similar to human patients.
Researchers developed a gene therapy that restored normal brain activity and improved behavior in mice with Fragile X syndrome by replacing the missing FMRP protein. The treatment administered during early development showed significant improvements in cognitive flexibility, social interactions, and probabilistic reversal learning.
A team studied 173 multiplex families from the Azores and Madeira islands, finding a single broken gene that travels through three generations and causes different illnesses. The CHD2 mutation is rare and affects schizophrenia, mood disorder, and autism in different family members.
A study has identified a genetic cause for pediatric-onset pyoderma gangrenosum, a rare inflammatory skin condition. The researchers discovered that a mutation in the OTULIN gene leads to the condition, which is characterized by recurrent ulcerating skin sores.
Researchers emphasize the need for large-scale population studies to assess the risks of newborn genome screening and minimize overdiagnosis. The study highlights that most genetic research has been conducted in individuals with a condition or high-risk family, resulting in underestimated risk estimates.
Researchers have found a potential new treatment for DHDDS-related disease by creating mini-brains from patients' cells and testing vitamin B3. The study showed significant improvements in patients' symptoms, including reduced tremors and increased energy levels.
A new DNA test offers a much more complete picture of DNA than current standard diagnostics, leading to a diagnosis more often. The test can replace fifteen other tests, making it faster and more efficient for rare genetic disorders.
Researchers describe a novel disorder caused by biallelic loss-of-function variants in the TMEM63B gene, resulting in severe lung disease. The disorder presents with early onset respiratory distress, lung abnormalities, and developmental delay but no epilepsy.
A pediatric ophthalmologist is leading a $1 million NIH grant to study the genetics of cataracts in children. The goal is to develop a comprehensive AI-assisted database of genes associated with potential diseases.
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.
A new EPI-SLEEP study will investigate the impact of personalized in-ear sleep technology on sleep disturbances and circadian health in adults with epilepsy. The study aims to generate robust evidence for a low-risk approach to improving sleep without adding medication burden.
A team of researchers has made a significant contribution to understanding human genetics by mapping the Japanese genome, revealing new insights into genetic disease shaping in the Japanese population. The study nearly doubled the complete reconstruction rate to 91.2%, enabling better personalized medicine and treatment options.
The HUG-CELL project aims to identify couples at risk of transmitting recessive genetic disorders and Fragile X syndrome. The initiative will create a large genetic database for Brazil to determine the prevalence of hereditary genetic diseases and develop 'risk calculators' based on the diversity of the Brazilian population.
A pilot study of the Participant Engagement Portal (PEP) tool shows that 84% of participants had a positive experience, with high usability and satisfaction rates. PEP facilitates two-way communication between patients and clinicians, allowing for self-reporting of social risk factors and future research opportunities.
Researchers will investigate the link between SYNGAP1 protein deficiency, cilia dysfunction, and clinical symptoms of SYNGAP1-Related Disorders. The study aims to inform rational drug design and provide new insights for targeted therapies.
CURE SYNGAP1 invests in remote assessment tools to broaden access to clinical care and trials for patients with SYNGAP1-Related Disorders. The study aims to evaluate the validity of a standardized remote developmental assessment to reduce travel burden.
The CURE SYNGAP1 COLLECTIVE is a collaborative framework uniting independent SYNGAP1 charities worldwide to accelerate treatments for individuals with SYNGAP1-Related Disorders. The Collective focuses on three primary pillars: research, industry engagement, and patient advocacy.
Children's Hospital Colorado has pioneered a groundbreaking approach to treating cystic fibrosis before birth, resulting in reduced NICU stays and improved pancreatic function. The pioneering care model uses ETI therapy to improve lung health and offers seamless continuation of treatment after birth through breast milk.
Researchers reconstructed the most detailed map of molecular machines that carried out life's functions in an ancient ancestor, revealing hundreds of new genes associated with human diseases. The study confirmed links between three rare disorders and identified potential targets for treating other diseases.
Researchers developed a technique that uses RNA origami to analyze sections of RNA, allowing for accurate sizing of repeat expansions in genetic disorders. The method shows promise for fast and affordable testing in clinical settings.
The 2025 Impact Report showcases tangible progress made by CURE SYNGAP1, including almost $1.8M in grants and the most successful SYNGAP1 Science Conference ever. The report highlights the organization's focus on Collaboration, Transparency, and Urgency, driving momentum for clinical trials and treatments.
CURE SYNGAP1 partners with RARE-X to accelerate ProMMiS study's Patient-Reported Outcome measure data collection. This investment enables the centralized collection of high-quality PROs, essential for regulatory approval and therapy development.
A major new study has found that severe asthma patients are often battling other health conditions, with nearly all suffering from at least one major issue. The study identified three distinct profiles linked to how well asthma is controlled and the treatments needed, offering potential breakthroughs for improving care.
Researchers develop an AI framework to accurately predict RNA splicing and isoform usage, addressing the need for better management strategies in patients with Hutchinson-Gilford Progeria Syndrome. The study highlights the importance of multidisciplinary coordination and prompt decision-making in this high-risk population.
Researchers developed a novel mouse model that mirrors the human disease, revealing molecular mechanisms underlying geleophysic dysplasia. The model replicates severe symptoms, including short stature, heart valve alterations, and early lethality, facilitating the identification of potential therapeutic targets.
Scientists have identified a new drug target for treating Fragile X syndrome by blocking the EPAC2 brain protein, which improves abnormal brain activity and behavioral symptoms. The study uses genetically engineered mice to simulate the condition and finds that EPAC2 levels rise gradually as the brain matures.
Researchers have identified a long non-coding RNA gene, PTCHD1-AS, as a contributor to increased likelihood of Autism Spectrum Disorder (ASD) in males. The study found that deletions within this gene influence social interaction and repetitive behaviors without affecting cognition.
Research reveals that persistent upper gut symptoms experienced by people with hEDS are due to heightened sensitivity and altered signalling between the gut and brain, rather than structural abnormalities. The findings highlight the need for a comprehensive biopsychosocial approach to care.
Toloo Taghian, a UMass Chan Medical School assistant professor, has received a five-year, $3.2 million grant to develop a gene therapy for UBA5 disorder, a rare genetic disease that affects protein balance and leads to neurological impacts. The goal is to monitor disease progression and determine the efficacy of future clinical trials.
Researchers developed RegVelo, an AI framework that models cellular dynamics and gene regulation to predict cellular fate decisions. The model traces developmental trajectories and simulates regulatory interactions, providing insights into hidden drivers of development and potential therapeutic targets.
Researchers discovered a molecular link between multicentric carpotarsal osteolysis (MCTO) and kidney disease, highlighting pathogenic MAFB accumulation and PI3K/AKT signaling. Treatment with imatinib suppressed AKT phosphorylation and attenuated glomerular injury in mice.
Researchers have mapped the structure and mechanics of a critical cellular machine that malfunctions in people with rare genetic disorders. The discovery could lead to new treatments and faster diagnoses for children with conditions like infantile encephalopathy, corpus callosum hypoplasia, and Kenny-Caffey syndrome.