Gene therapy shows promise in treating SCN1B-linked epileptic encephalopathies
Dravet syndrome and other developmental epileptic encephalopathies are rare but devastating conditions that cause a host of symptoms in children, ...
Tag: Mutation
Alzheimer’s escape: How one man defied his genetic fate for nearly two decades
Scientists discovered a rare case of an Alzheimer’s gene carrier who remained symptom-free for 18 years beyond the expected onset, ...
Study identifies potential gain of function mutation in retinoblastoma
A new research paper was published in Volume 16 of Genes & Cancer on January 20, 2025, entitled, "Analysis of ...
Unveiling the role of gene inactivation in human disease
New work by Columbia researchers has turned a textbook principle of genetics on its head and revealed why some people ...
Mapping cerebellar nuclei outputs in an autism mouse model
The cerebellum plays a critical role in both motor and non-motor functions, and its dysfunction is linked to various mental ...
Setd2 catalytic activity is crucial for embryonic development in mice
A recent study delves into the pivotal role of Setd2, a histone methyltransferase enzyme, in embryonic development within mice. Setd2 ...
New insights into the developmental trajectory of social behaviors in fragile X syndrome
In a comprehensive Genomic Press Interview, researchers from the University of Texas Health Science Center at San Antonio and Hirosaki ...
Generating mutated proteins through adversarial attacks on the AlphaFold2 model
Announcing a new publication for Acta Materia Medica journal. Proteins are essential macromolecules that perform functions according to their conformational ...
Surrey research offers new hope for people suffering from immunodeficiencies
Several rare immune disorders are caused by mutations in the patient's DNA. The University of Surrey and its collaborators found ...
New study challenges the traditional view of gene switches
Some sequences in the genome cause genes to be switched on or off. Until now, each of these gene switches, ...
