Stories about: dyskeratosis congenita

Short telomeres, myriad diseases: The complex mystery of dyskeratosis congenita

dyskeratosis congenita
The chromosome tips known as telomeres can be compromised by many different mutations — with many different effects. (vitstudio/Shutterstock)

Genetic diseases largely fall into two overarching camps. You have simple, single-gene alterations that produce a single, recognizable disease. And you have conditions like diabetes or cardiovascular disease, where many variations in many genes all make small contributions that fuel the illness.

Dyskeratosis congenita (DC) doesn’t fit either profile. While this rare genetic condition manifests in certain predictable ways (bone marrow failure among the most common), there is huge variability between patients. Yet genetics has revealed one common thread: the molecular caps that protect the ends of chromosomes, known as telomeres, are shortened in DC patients. This results in cells that age too quickly.

From there things get complicated, because problems with any of 11 different genes can trigger short telomeres in DC. And DC, it appears, is only the beginning.

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Taking the toxicity out of stem cell transplants

Colombian twins Miranda and Olivia Agudelo (with their parents) were the first patients in a clinical trial aimed at making the bone marrow transplant process less toxic.

One thing that most people don’t realize about stem cell transplants (also called bone marrow or hematopoietic stem cell transplants) is that for patients, the transplant itself is probably the easiest part of the process. The grueling part is the preparation for a transplant, called conditioning.

There’s been a lot done at Dana-Farber/Children’s Hospital Cancer Center (DF/CHCC) and elsewhere to make conditioning less toxic. With a new clinical trial in a rare genetic syndrome called dyskeratosis congenita (DC), doctors at DF/CHCC are taking an even bolder step.

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Stem cell experiments in genetic blood diseases

The green tips of these chromosomes are telomeres, whose length is a measure of cellular "aging" and determines how many times a cell can divide.

In a roomful of kids’ cancer specialists, like those listening to the keynote speech by George Daley, closing an international pediatric oncology meeting in Boston, the Myc gene is better known as a mutated weapon of mass destruction.

But this driver of cancer growth is also part of a four-gene cocktail that can reprogram an adult skin cell back into an embryonic-like stem cell that holds great therapeutic potential.

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