Medical research

Promising gene therapy delivers treatment directly to brain

When Rylae-Ann Poulin was a year old, she didn't crawl or babble like other kids her age. A rare genetic disorder kept her from even lifting her head. Her parents took turns holding her upright at night just so she could ...

Neuroscience

CRISPR-based strategy restores neurons affected by Rett syndrome

Rett syndrome is a rare, progressive neurodevelopmental disorder that typically affects girls, causing severe intellectual disability, loss of motor skills, and autism-like symptoms, and there is currently no cure. Rett syndrome ...

Medical research

Zebrafish model helps explain eye development

Scientists at the National Eye Institute (NEI) have developed a zebrafish model of NEDBEH—a rare genetic disorder that can cause coloboma, where parts of the eye are missing due to developmental defects. The model provides ...

Neuroscience

Immune cells help protect brain health and cognition, finds study

Scientists have discovered that immune cells, known as microglia, help maintain the health of myelin—the insulating layer that forms around nerve cells—which is important for nerve cells in the brain and spinal cord to ...

Psychology & Psychiatry

Depression may look different in Black women, says new study

Black women with symptoms of depression more often report sleep disturbances, self-criticism, and irritability than stereotypical symptoms such as depressed mood, according to a new study led by researchers at NYU Rory Meyers ...

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Genetic disorder

A genetic disorder is an illness caused by abnormalities in genes or chromosomes. While some diseases, such as cancer, are due in part to a genetic disorders, they can also be caused by environmental factors. Most disorders are quite rare and affect one person in every several thousands or millions. Some types of recessive gene disorders confer an advantage in the heterozygous state in certain environments. A haploid cell has only one set of chromosomes. A diploid cell has two sets of chromosomes. In human, the somatic cells are diploid, and the gametes are haploid.

Genetic diseases are typically diagnosed and treated by geneticists. Genetic counselors assist the physicians and directly counsel patients.[citation needed]

This text uses material from Wikipedia, licensed under CC BY-SA