KrabbeConnect

2 weeks ago

Yes, we have a newsletter—and we want you to be in the know!

Stay connected with the latest research updates, family resources, community events, and opportunities to get involved.

Visit KrabbeConnect.org and scroll to the bottom of the page to subscribe today. ... See MoreSee Less

KrabbeConnect

2 weeks ago

🧬 What is psychosine—and why does it matter in Krabbe disease?

PsychosineDue to the enzyme deficiency in Krabbe disease, psychosine accumulates in the nervous system of affected individuals. Psychosine, a galactolipid, is a cytotoxic type of lipid, that has destructive pr is a toxic substance that builds up when the body lacks enough GALCA specific enzyme that receives its instructions from the GALC gene. When the GALC gene isn’t working properly, the enzyme, galactocerebrosidase, is unable to break down certain fats called galactol More enzymeA protein needed by the body to break down certain substances by causing a biochemical reaction within the cells. In Krabbe disease, galactocerebrosidase is the deficient enzyme.  Words that end in to properly break down certain fats inside the lysosome. As psychosine accumulates, it damages the cells responsible for protecting our nerves, leading to the devastating effects of Krabbe disease.

Understanding this process helps families, researchers, and clinicians work toward earlier diagnosis, better treatments, and ultimately a cure.

Knowledge is power. Together, we're bridging the gap between science and patient understanding. 💙

#curekrabbe#KrabbeDisease #ultrarare #krabbeconnect ... See MoreSee Less

KrabbeConnect

2 weeks ago

Happy Father's Day to the incredible dads in our Krabbe disease community. 💙

Today, we celebrate your strength, your unwavering love, and your dedication through every challenge and every triumph. Whether your child is by your side or forever in your heart, we honor you today and always.

From all of us at KrabbeConnect, Happy Father's Day. ... See MoreSee Less

KrabbeConnect

2 weeks ago

Researchers have identified more than 300 different GALC geneThe GALC gene is located on chromosome 14. This gene provides instructions for making the enzyme galactocerebrosidase. This enzyme breaks down certain fats called galactolipids. Galactocerebrosidase More variants that can cause Krabbe disease.

Ugh… in English, please! 😅

Think of your DNAAn abbreviation for deoxyribonucleic acid (DNA). DNA is the genetic blueprint or the instruction manual for the human body. While we appear so unique, it is amazing to note that two unrelated individu like a recipe book. The GALC gene is one recipe that tells your body how to make an important enzyme. A gene variant is simply a change in that recipe.

🍰 If the recipe says "add 2 cups of flour" instead of "add 2 tablespoons of flour," your cake probably won't turn out right.

The same can happen in our genesThe body is made of ~20,500 genes, each of which has a specific function within the body.  Our genes are what makes each one of us unique- from our green eyes to our curly hair.. Some changes are so small they don't matter at all. Others can prevent the body from making enough of the GALC enzyme, leading to Krabbe disease.

And to make things even more confusing, not all GALC variants behave the same way. Some are linked to infantile-onset disease, while others may lead to later-onset forms—and researchers continue to discover new variants every year.

Understanding these genetic changes is critical to improving diagnosis, guiding treatment decisions, and advancing research toward better therapies and, ultimately, a cure. 💙

#KrabbeDisease #raredisease #genetics #krabbeconnect ... See MoreSee Less