What happens in Leigh disease, exactly?

What is it? Leigh disease is rare genetic disorder that mainly affects the brain and the spinal cord. The first symptoms typically appear within the first year of a child’s life, and they include things like diarrhea, vomiting and trouble with swallowing. As the disease progresses, the brain slowly looses control over the muscles. This… Continue reading What happens in Leigh disease, exactly?

What is CRISPR, exactly?

So this post is going to be a bit different but I’m so excited about CRISPR that I couldn’t resist writing about it!  I hope you find it interesting  🙂 CRISPR (clustered regularly interspaced short palindromic repeats – I know, let’s just stick to CRISPR!)  are parts of DNA where the same code is repeated over and over… Continue reading What is CRISPR, exactly?

What happens in Charcot-Marie-Tooth disease, exactly?

What is it? Charcot-Marie-Tooth disease (CMT) is a genetic disease that causes progressive damage to the nerves that are supposed to transfer impulses between the central nervous system (the spinal cord and the brain) and the rest of the body. This leads to a loss of muscles as well as of sensation. CMT is the most… Continue reading What happens in Charcot-Marie-Tooth disease, exactly?

What happens in Duchenne muscular dystrophy, exactly?

What is it? Duchenne muscular dystrophy (DMD) is a genetic disease that leads to muscle loss. The first symptom, muscle weakness, typically starts around the age of four and gets worse quickly. The average life expectancy is 26 years. DMD is much more common in males than in females, and it affects about 1 in 3600… Continue reading What happens in Duchenne muscular dystrophy, exactly?

What happens in Down syndrome, exactly?

What is it? Down syndrome is a genetic disorder. It typically leads to delays in physical growth, characteristic facial features, and low intelligence even as an adult. In the United States, 20% of people with Down syndrome are in a paid job of some kind. Their life expectancy is 50-60 years. The syndrome affects about… Continue reading What happens in Down syndrome, exactly?

What happens in Batten disease, exactly?

What is it? Batten disease is a very rare, fatal, hereditary neurodegenerative disorder. The symptoms begin in childhood, and they include vision problems, seizures, changes in personality and behavior, and problems with learning. Over time the symptoms worsen, and eventually the patient becomes blind, bedridden, demented, and dies. While there is a less severe form of… Continue reading What happens in Batten disease, exactly?

What happens in choroideremia, exactly?

What is it? Choroideremia is a genetic disease that leads to damage to the retina and eventually blindness. Having trouble seeing in darkness is the first symptom. Later the affected lose their ability to detect distance, and their visual field starts to decrease from the edges until it is altogether lost. Choroideremia typically starts in youth and… Continue reading What happens in choroideremia, exactly?