Genetic variants of a specific small nuclear RNA (snRNA), a family of non-coding RNAs that play a vital role in the spliceosome, account for nearly one in every twenty cases of neurodevelopmental disorders. According to early-access research published in Nature, these variants in the U4 snRNA RNU4-2 account for approximately…

Using sequencing, phenotyping, as well as fruit fly and stem cell models, a large international team has identified three genes whose variants were linked to neurodevelopmental disorders, such as developmental delay, intellectual disability, and autism. Each of these genes affects how the spliceosome works. The team suggests this study could…

Fifteen additional genetic mutations in the KCNK9 gene that cause a neurodevelopmental syndrome have been uncovered by a collaborative team of scientists. Symptoms range from speech and motor impairment to behavioral abnormalities, intellectual disability, and distinctive facial features. “Until now, only one genetic alteration in the KCNK9 gene was known…

Researchers at the Children’s Hospital of Philadelphia have discovered that variants in the SMARCA5 gene, which plays a role in how DNA is coiled and stored in the cell, can cause some neurodevelopmental disorders. There are many different types of neurodevelopmental disorders linked to intellectual disability, a large number of…

Techniques such as high-throughput genome sequencing have allowed scientists to identify hundreds of genetic variants that are linked with increased risk of different neurodevelopmental or neuropsychological disorders, such epilepsy, schizophrenia, intellectual disability, and autism spectrum disorder (ASD). However, two people with the same known risk variant won’t necessarily present with…

Researchers at Tel Aviv University have made a discovery that could transform our understanding of genetic mutations and their role in brain development. Published in Genomic Psychiatry, the study reveals that an inherited mutation in the activity-dependent neuroprotective protein (ADNP) gene may actually provide protection against certain neurological disorders, challenging…

The German healthcare system has created a framework for identifying patients with ultra-rare diseases by analyzing next-generation sequencing (NGS) and phenotyping data. While a structured phenotypic assessment combined with an advanced sequencing test such as exome sequencing could reduce diagnostic delays, the addition of AI-driven modeling significantly improved variant prioritization.…

Researchers have identified the biological impact of dozens of genes involved in neurodevelopmental disorders such as autism, which could help accelerate drug development for these conditions. Roughly 11 percent of the genes studied interfered with the development of interneurons in the brain. The interneurons play a key role in regulating…

Researchers at University College London (UCL) have developed a new gene therapy approach for epilepsy and potentially other neurological and psychiatric diseases that works by reducing the excitability of overactive brain cells. The new closed-loop gene therapy approach enables the on-demand expression of a gene that tamps down the activity…

An international research collaboration, led by the Murdoch Children’s Research Institute and the University of Melbourne in Australia, has discovered a new neurodevelopmental genetic syndrome linked to the tumor suppressor gene FBXW7. The discovery has helped bring answers to 35 adults and children from 32 families in seven countries around…

Researchers at the Baylor College of Medicine report that they have found that microbes in the gut may contribute to certain symptoms associated with complex neurological disorders. Their study “Dissecting the contribution of host genetics and the microbiome in complex behaviors,” published in Cell, also suggests that microbe-inspired therapies may one…

In the largest study of its kind, researchers at Massachusetts general Hospital have learned that eight psychiatric disorders have common genetic links. Studying GWAS data from healthy controls and individuals with at least one psychiatric disorder, they identified 109 gene variants associated with an increased risk for more than one…

Sponsor: Ambry Genetics Ambry Genetics is launching a new suite of genetic tests for neurodevelopmental conditions such as Autism, Rett Syndrome, intellectual disorders (ID), and epilepsy. These new panels should aid in making a specific diagnosis and enable physicians to choose the best diagnostic approach for each affected individual. These…

Brain inflammation as a child can affect the development of two rare types of cerebellar neurons and could provide an insight into its role in conditions such as autism and schizophrenia. Researchers found that Purkinje and Golgi neurons were vulnerable to brain inflammation and showed premature disruption in their maturation.…

Genes expressed in the brain before birth may affect development of a range of mental illnesses during childhood, according to new research. A Massachusetts General Hospital (MGH) team has found a new gene “set” that helps predict risk for several neurodevelopmental disorders, including autism, ADHD, Tourette syndrome, and depression. The…