Genetic testing can help doctors diagnose some neurological disorders, such as Huntington’s disease. It can also provide insights into a person’s risk of future health conditions. Genetic testing ...
In a genetic association study, investigators integrated data from genome-wide association studies of various disorders with retinal transcriptomic data. Findings revealed that the polygenic risk of ...
Genetic disorders can occur due to mutations in one gene (monogenic), multiple genes (multifactorial inheritance), and mutation in one or more chromosomes. Point mutations are where one nucleotide in ...
A team of researchers from the Chinese Academy of Sciences has uncovered compelling evidence of a genetic link between bipolar disorder type I (BD-I) and epilepsy, potentially revolutionizing our ...
Rare genetic disorders are typically caused by a variant in a single gene. It is estimated that there are over 7000 such conditions, meaning that although individually rare, they are collectively ...
Neurofibromatosis type 1 (NF1) is a genetic condition that affects the skin, nervous system, and other parts of the body. The condition, formerly called Von Recklinghausen disease, causes changes in ...
Lissencephaly is a spectrum of rare, genetic disorders in which the brain fails to develop its hallmark folds. The disorders are often associated with seizures and intellectual disability and ...
A massive global genetics study is reshaping how we understand mental illness—and why diagnoses so often pile up. By ...
For the first time, doctors have treated a baby born with a rare, life-threatening genetic disorder with a gene-editing therapy scientists tailored to specifically repair his unique mutation. The baby ...
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What is SMA type 1? Understanding the rare genetic condition affecting former Little Mix star Jesy Nelson’s twins
Former Little Mix star Jesy Nelson and partner Zion Foster welcomed twins Kai and Everleigh in January 2026. However, joy ...
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