A new review explores how advances in understanding X chromosome inactivation (XCI) are creating potential therapeutic opportunities for a range of X-linked genetic disorders, including Rett syndrome, ...

Individuals that share the same deletion of a portion of chromosome 16 are at risk of developing neurodevelopmental disorders, but some experience severe intellectual disability or developmental delay ...

A new review explores how advances in understanding X chromosome inactivation (XCI) are creating potential therapeutic opportunities for a range of X-linked genetic disorders, including Rett syndrome, ...

Rare genetic disorders affect more than 300 million people worldwide, with children making up 70% of those impacted, according to EURORDIS. These conditions often go undiagnosed for years due to ...

Rare Chromosome Awareness Day, celebrated in June, is an opportunity to increase public knowledge about rare chromosome and gene disorders. These conditions can lead to various physical, developmental ...

Helix, the leading enterprise genomics platform, today announced the availability of Whole Exome+® Sequencing (WES+), a comprehensive diagnostic sequencing test now available to ordering providers ...

Ring chromosome disorders encompass rare structural chromosomal aberrations in which terminal segments are lost and the remaining arms fuse to form a circular chromosome. Such rearrangements often ...

The phenomenon now known as mosaic loss of chromosome Y, or mLOY, first emerged when researchers noticed that some men’s blood cells showed a missing Y in standard genomic data. A Primary study on ...

Planning for pregnancy is not only about tracking ovulation or taking prenatal vitamins. For some couples, fertility planning can also include checking whether they carry genes linked to inherited ...

Human DNA, which is approximately two meters in length, is organized into a compact, thread-like structure known as the chromatin, so it could fit into the nucleus, a tiny sphere that’s only about six ...