Research on inherited diseases and their causes. Covers RNA therapies, hidden diabetes subtypes, pulmonary disease, and prenatal genetic testing.
Dr. Xin Jin has been recognized for her groundbreaking work on genetic mechanisms of neurodevelopmental disorders, developing new technologies to accelerate the understanding of gene mutations in the brain. Her research aims to uncover fundamental principles of genome function and its impact on neural systems.
Dr. Bruce D. Gelb, a pioneering pediatric cardiologist and geneticist, is honored with the 2026 APS John Howland Award for his groundbreaking research on congenital heart disease and developmental disorders. His work has profoundly shaped our understanding of these conditions and elevated the field of pediatric medicine.
Hereditary spastic paraplegias are a diverse group of over 80 neurodegenerative disorders with limited therapeutic options. Boston Children's Hospital is expanding its research efforts to promote clinical trial readiness for these disorders, thanks to an $8.1M NIH grant.
International experts have established guidelines for gene therapy in hereditary hearing loss, emphasizing patient-centered care and respect for diversity. The guidelines outline frameworks for clinical trials, including patient selection criteria, surgical procedures, and safety evaluations.
Researchers used CRISPR technology to identify HMGN1, a nuclear binding protein that contributes to trisomy 21-related CHDs. The study found that an overabundance of HMGN1 leads to abnormal heart development and gene expression.
The US needs a new strategy for insurance coverage and access to cell and gene therapies due to high up-front costs. In contrast, Europe has approved 19 CGTs with most being reimbursed within two years of approval based on demonstrated added therapeutic value.
Researchers identified key genes connected to cellular lipid metabolism that guide the precise release of cytotoxic granules in human NK and T cells. This discovery explains how immune cells work and sheds light on diseases caused by genetic defects.
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.
The European Society of Endocrinology has released the EndoCompass Research Roadmap, a major new initiative to align research efforts and improve funding strategies for hormone-related health challenges. The roadmap identifies specific research needs across eight endocrine specialties and five cross-cutting areas.
A research team has discovered a previously unknown genetic cause of hereditary optic atrophy, a degenerative disease of the optic nerve associated with gradual loss of vision. A genetic variant in the PPIB gene was found to impair mitochondrial function, detectable in most known forms of hereditary optic atrophy.
Researchers have identified a 'longevity gene' from supercentenarians that can slow down heart aging in a progeria model. The gene helps keep the heart and blood vessels healthy during aging, reducing signs of aging and fibrosis in Progeria patients.
A new method has created reliable growth charts for six rare genetic conditions using data from almost 600 children worldwide. The LMSz method provides condition-specific charts that can help healthcare professionals make informed decisions and give families a clearer picture of their child's growth, supporting better medical care.
A recent study found that a person's genetic background, rather than a single gene, plays a key role in the development of complex disorders. The research revealed patterns of secondary variants that can modify the impact of primary genetic variants on clinical outcomes.
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.
The CityUHK team is developing two core therapeutic medicines using state-of-the-art DNA surgery technology to treat liver and cardiovascular genetic diseases. Their approach offers a durable and long-lasting solution, eliminating the need for repeated medications.
A new study found that around one in seven Black and one in 63 South Asian men in the UK carry a genetic variant known as G6PD deficiency, which can cause delays in type 2 diabetes diagnosis. Men with this deficiency are diagnosed four years later than those without it.
Researchers at Stowers Institute for Medical Research have identified the precise location where human chromosomes break and recombine to form Robertsonian chromosomes. The study reveals that repetitive DNA sequences play a central role in genome organization and evolution, explaining how these rearrangements form and remain stable.
A multidisciplinary panel published in the Journal of Pediatrics advocates for accelerated diagnosis of familial hypercholesterolemia, a life-threatening genetic condition. Universal lipid screening is recommended to identify affected children at high risk of heart disease decades earlier than those without the condition.
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.
A $8.6 million NIH grant has renewed funding for the Rare Disease Clinical Research Network project, focusing on cognition, communication, and neuropsychiatric symptoms in individuals with rare diseases. The initiative aims to develop biomarkers, support pilot projects, and foster skilled investigators.
Researchers have introduced a novel gene therapy method to treat impairments in hearing and balance caused by inner ear dysfunction. The treatment, utilizing an advanced AAV vector, prevents hair cell degeneration and preserves normal hearing and balance.
Researchers Kevin Campbell, Louis Kunkel, and Eric Olson are honored for their discoveries revealing the biological causes of Duchenne muscular dystrophy, providing a foundation for new treatments. Their work has advanced scientific understanding and brings hope to families affected by this devastating disease.
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.
Dr. Michael J. Welsh has advanced understanding and treatment of cystic fibrosis through his pioneering research on chloride channels and CFTR function. He has developed new therapies, including a porcine model of CF, leading to improved treatments for 90% of people with the disease.
Researchers from Weizmann Institute of Science and Sheba Medical Center identified two drugs with the potential to treat KLA, a rare genetic disorder affecting the lymphatic system. The study used transparent zebrafish embryos to decipher the disease mechanism and find effective treatments.
Researchers at Northwestern University have developed a new CRISPR delivery system that triples efficiency using DNA-wrapped nanoparticles, improving safety and effectiveness. The new system, called LNP-SNAs, targets specific cells and tissues, reducing toxicity and boosting gene-editing efficiency by threefold.
Scientists at the University of Alabama at Birmingham created novel mouse models with mutations in the DHDDS gene to study retinitis pigmentosa (RP) 59, a genetic cause of blindness. The studies revealed that both T206A/K42E and K42E/K42E mouse models exhibited changes in retinal structure and function similar to human RP59 disease.
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 mapped the surface envelope glycoprotein of human endogenous retroviruses, opening doors to new diagnostic and therapeutic opportunities. The study revealed specific antibodies that target the viral proteins, potentially leading to new cancer immunotherapies and treatments for autoimmune diseases.
Researchers identified three distinct molecular subtypes of follicular lymphoma, offering insights into personalized treatment plans. The subtypes C1, C2, and C3 differ in their genetic profiles and tumor microenvironments, guiding the use of specific therapies.
A UMass Amherst kinesiologist has received a $2 million NIH grant to study how myosin molecules work together to drive different processes within cells. His research aims to develop drugs for heart failure, neurological conditions and genetic forms of deafness.
Researchers from the University of Pennsylvania School of Veterinary Medicine and Children's Hospital of Philadelphia discovered a link between mitochondrial dysfunction in the blood-brain barrier and neuropsychiatric disease in patients with 22qDS. Treatment with bezafibrate, a cholesterol drug, may enhance BBB function and correct so...
Researchers at the University of Waterloo have developed a novel method using modified M13 bacteria to deliver targeted gene therapies for genetic disorders. This approach shows promise as a cost-effective alternative to current methods, which can be expensive and trigger toxic side effects.
A three-year-old girl has been successfully treated with the first-ever FDA-approved gene therapy treatment for AADC deficiency, a rare inherited neurological disorder. The treatment, Kebilidi, is expected to take 2-6 months to show measurable impact and has already shown signs of increased energy and happiness.
A Phase I/II clinical trial found that gene therapy reduced seizures, improved oral feeding, and increased production of the HexA enzyme. Participants experienced fewer and more controllable seizures, and some remained on full oral feeds for up to 27 months.
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.
Researchers from CHOP and Clinic for Special Children discovered a genetic disorder affecting the immune system is prevalent in the Old Order Amish community. The study found that complement factor I deficiency, an ultra-rare genetic disorder causing debilitating neuroinflammation, is more common in individuals of Old Order Amish ances...
A research team developed a new method to precisely edit DNA by combining genetic engineering with artificial intelligence. The technique enables accurate modeling of human diseases and lays the groundwork for next-generation gene therapies.
Researchers have developed a groundbreaking method to observe lysosomes in live suspended cells—quantitatively, in 3D, and without the use of chemical labels. The technology uses holographic tomography in flow cytometry configuration (HTFC) to identify morphological and spatial lysosomal changes in models of lysosomal storage diseases.
Researchers at Salk Institute launched a machine learning framework called ShortStop to explore overlooked DNA regions and discover microproteins with potential roles in disease. The tool identified 210 new microprotein candidates in lung cancer data, including one validated target for therapeutic treatment.
A $5.5 million federal grant will support clinical trials to treat fragile X-associated tremor/ataxia syndrome (FXTAS). The project aims to develop accurate outcome measures for future trials, ensuring patients and caregivers have a say in what matters most.
The American Society of Human Genetics recognizes Dr. Harry Dietz for his work on Marfan Syndrome, Dr. Eric Green for his leadership in advancing human genetics and genomics, Dr. Mike Talkowski for his pioneering contributions to cytogenetics and genomic medicine, and Dr. Elizabeth Bhoj for her extensive work in translational genetics.
A new genetic study has identified genes involved in neuronal signalling and sensory pathways as key drivers of chronic cough. The findings advance our understanding of cough reflex hypersensitivity as a nervous system-mediated process, opening up opportunities for targeted treatments.
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.
The 2025 Critical Path Institute Global Impact Conference will bring together industry, regulatory agencies, academia, and patient advocacy groups to discuss pressing challenges in drug development. The event aims to foster cross-sector collaboration to advance medical innovation and improve treatment outcomes for patients.
Researchers at UC Davis MIND Institute recommend testing for specific groups, citing inadequate recognition by healthcare providers. The group of genetic conditions affects learning, development, and behavior, with millions of people unaware they carry the premutation.
Researchers developed a potential strategy to treat neurobehavioral challenges in NF1, a genetic disease affecting the skin and nervous system. The findings may also apply to hundreds of other rare genetic diseases, including autism spectrum disorder and ADHD.
A study of 365 adults found nearly one in four had a genetic condition causing their ICU admission, which was unknown to nearly half of those patients and their doctors. The researchers recommend offering genetic testing to all adults admitted to the ICU to improve care and reduce health disparities.
A pilot clinical trial has been initiated to test the efficacy of alpelisib in treating Dent disease 2, a rare genetic disorder affecting kidney function. The trial aims to improve abnormal kidney function and potentially provide a breakthrough treatment for patients with life-threatening complications.
The Center will develop personalized CRISPR on-demand treatments for children with severe inborn errors of immunity and metabolic disease. The initiative aims to make CRISPR cures more affordable and accessible, building on recent clinical success in treating ultra-rare genetic diseases.
Biomolecular condensates play a critical role in organizing and regulating proteins within the postsynaptic density of neurons. Prof. Strømgaard's research aims to develop condensate-modifying compounds that restore normal function in SYNGAP1-related disorders, offering new avenues for therapeutic interventions.
Researchers have identified a key protein associated with Meckel-Gruber syndrome that is cut in half to perform two separate functions, both fundamental to healthy cilia development. The findings shed new light on how cilia formation and cell signaling are finetuned by external forces.
A new gene therapy delivery device called NANOSPRESSO could revolutionize how hospitals treat rare diseases by allowing them to create personalized nanomedicines in-house. This democratized approach to precision medicine could boost access to low-cost bespoke gene and RNA therapies, especially in low-resource settings.
A comprehensive analysis of 2,762 Indian genomes reveals a complex history of genetic mixing, endogamy, and population bottlenecks that shaped the country's genetic variation, health, and disease. The study found that most genetic variation in India can be explained by a single migration out of Africa about 50,000 years ago.
A new approach enables hospital pharmacists to rapidly create bespoke medicine cartridges for rare disease patients, boosting access to personalized treatment. The NANOSPRESSO platform could open up treatments for underfunded and underserved rare conditions worldwide.
A phase 3 trial demonstrated the efficacy of selumetinib in reducing tumor size and alleviating pain in adults with neurofibromatosis type 1. The treatment was found to be effective in patients who received it from day one, as well as those who started it later, with significant reductions in tumor size and pain reported.
Researchers have identified a previously unknown organelle called the hemifusome that plays a crucial role in cellular sorting and recycling. This discovery could lead to targeted treatments for complex genetic disorders like Hermansky-Pudlak syndrome, which affects multiple systems in the body.
A new study involving 121 former elite rowers from Australia found that one in five develops atrial fibrillation, a condition that can lead to stroke and heart failure. The researchers identified genetic and clinical tools that enable early preventive strategies, highlighting the paradox that AFib is more common among fit athletes.
The 2025 NF Conference brings together researchers, patients, and advocates to discuss progress and future prospects in NF treatment and discovery. The event features keynotes on gene therapy, regulatory reform, and next-generation pain treatments.
The National Urea Cycle Disorders Foundation is establishing a multistakeholder Partner Network to guide health care decisions and build a sustainable infrastructure for UCD research. The project aims to empower the broad UCD community to work together effectively, identify research needs, and create a roadmap for future studies.