Genetic Research: X-linked NEMO gene mutation and role of stem cells (vs gene therapy)

CASE #1

In memory of Jack Hagelin (4 September 2002 - 27 March 2007)

This video was posted on 3 June 2006 after he was discharged from the transplant unit. Jack passed away peacefully surrounded with love at the Philadelphia Children's Hospital. He died from complications of pneumonia and after a 4½ year battle of a NEMO gene mutation with Primary Immune Deficiency and Ectodermal Dysplasia, two rare genetic disorders. His treatment included a Stem Cell Bone Marrow transplant. In his short 4½ years he has helped science gain more knowledge for this rare genetic condition. Through this knowledge he has helped other children with this same condition.

YouTube video source: Hit The Road Jack 
The above text was edited from the video source in YouTube.
--
CASE #2

There are rare genetic disorders. The story of a 3-year old Mexican boy named Andy whose parents are Andres & Paulina Trevino is a good read for all new students entering into medicine for the first time. Andy faces a life-long disease and there is no known cure for Andy's disease. Please read the life and struggle of little Andy here.

At the time, researchers did not yet connect the NEMO gene mutation with primary immune deficiency and ectodermal dysplasia. Researchers learned from Andy's DNA in October 2000 that a mutated NEMO gene causes both primary immune deficiency and ectodermal dysplasia. As a result of the mutated NEMO gene Andy has conical-shaped teeth, sparse hair, and a weakened immune system. A mutated NEMO gene is a "relay gene" controlling skin, hair, and immune systems.

Ectodermal dysplasia usually is manageable but can be deadly when combined with primary immune deficiency. For example, it may be difficult to clear an upper respiratory infection caused by poor mucus secretions in both the respiratory and nasal systems because of the weakened immune system.

Mutated NEMO genes block messages normally sent between the membrane and nucleus of the cell causing its defenses not to work.

A person with ectodermal dysplasia syndrome has poorly developed sweat glands, hair follicles, and conical shaped teeth caused by a NEMO gene mutation. Ectodermal dysplasia prevents sweating.

Most of the 150 types of ectodermal dysplasia syndromes are not fatal. All ectodermal dysplasia syndromes are acquired prior to birth through the X chromosome. Seven out of every 10,000 people have the syndrome according to "The Birth Defects Encyclopedia."

The above text was adapted from here.

Prof Faridah