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MUCOLIPIDOSIS IV FOUNDATION - HOME PAGE

We hope that both parents and professionals will find the information at this site helpful and that you will share your knowledge of this site with others in the hope that it will be helpful to them as well. 


The pages contained at this site are intended to increase your understanding of Mucolipidosis IV and to provide a forum to share information. Enjoy your visit. 

Please let us know if there is something you would like to see added or changed here. Your feedback is important. 

THE ML4 GENE HAS BEEN IDENTIFIED !!! 
ML4 gene discovered independently by Dr. Gideon Bach et all at Hadassah Medical Center in Israel and by the collaboration of Dr. Susan Slaugenhaupt's team at Harvard/Massachusetts General Hospital and Drs. Ehud Goldin and Sun Mei at the National Institutes of Health. The ML4 gene is a new protein that is probably an ion channel, but it's exact function is not yet known. 

The finding of this gene will facilitate the identification of patients and will help perform efficient prenatal diagnosis and carrier testing.

I'm sure you're as excited as we are. The identification of chromosome 19 let the way.

This is a good start to the new year.


HISTORY OF THE ML4 FOUNDATION 
The ML4 Foundation, originally known as CHARM (Children's Association for Research on Mucolipidosis), was founded in 1982 by Ron & Lynn Goldblatt, their parents, Roz and Joe Zakutinsky, other familily members, and close friends.

ML4 was unheard of years ago. Most doctors did not know of this disorder. After exploring many avenues and researching whatever publications were available, we came across Dr. Gideon Bach - the head of the Human Genetics Department of Hadassah Hospital in Jerusalem, Israel. At that time, he informed us that there were 12 reported cases in the world. Since then, it has grown in numbers to almost a hundred reported cases, but doctors estimate there are many more times this number not diagnosed or misdiagnosed as cerebral palsy.

Research has come a long way since the organization's beginning. Today we fund three major medical institutions comprised of the best genetic scientists recognized worldwide.

Medical research was the major reason we started the organization. In addition, we wanted to reach out to other families affected with this debilitating disorder.

Perseverance and hard work attributed to the growth and success of the ML4 Foundation. With the ongoing help of parents, relatives, and friends, we will continue our pursuit of a cure. 


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