What is Li-Fraumeni Syndrome (LFS)?

What is Li-Fraumeni Syndrome (LFS)?

The goal here is to try to get information to people who have just been diagnosed, who are completely overwhelmed by this whole thing, so let’s start with the basics: what is Li-Fraumeni syndrome? Well, Li-Fraumeni syndrome is an inherited cancer condition. It’s caused by mutations in a gene that’s called TP53. Individuals who have…

Did Scientists Cure Down Syndrome?

Did Scientists Cure Down Syndrome?

Down syndrome occurs is the leading genetic disorder in the world, and a new study might have found a way to reverse it. Hey everyone, Trace here for DNews with some interesting new breakthroughs concerning Down syndrome. The genetic disorder is caused by an improper replication of chromosomes with the 21st having a little extra.…

Prader-willi syndrome – causes, symptoms, diagnosis, treatment, pathology

Prader-willi syndrome – causes, symptoms, diagnosis, treatment, pathology

Prader-Willi syndrome is a genetic disorder that, in infancy, causes poor feeding and low muscle tone, and then in childhood, and then overeating, intellectual disability, and low sex hormones starting in childhood. It happens when a handful of genes on chromosome 15 aren’t transcribed into messenger RNA and therefore aren’t expressed. Among these are SNRPN…

Chromosome 21 – How accidental inheritance can lead to Downs syndrome

Chromosome 21 – How accidental inheritance can lead to Downs syndrome

Our genetic information, our DNA, is conveniently packaged into little bundles called chromosomes. Humans have 23 pairs of them, 46 altogether. They contain the instructions that the body uses to build itself, the recipe for a human, if you will. Accidentally duplicating copies of the DNA instructions can cause problems later on. That’s what happens…