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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.
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ML4 MOUSE MODEL CREATED !!!
- We are thrilled to announce the creation of a mouse model for MLIV.
The researchers examined many tissues in the mouse and saw many of the same features of the human MLIV disease. The mouse model will allow us to study how the loss of mucolipin leads to abnormalities in the brain, and also to develop and test potential treatments.
The team was led by Dr. Susan Slaugenhaupt in the Center for Human Genetic Research at Massachusetts General Hospital and Harvard Medical School, and included investigators from the National Institutes of Health NIMH Transgenic Core Facility, Albert Einstein College of Medicine, the Massachusetts Eye and Ear Infirmary, and the University of Liverpool.
ML4 CARRIER TESTING AVAILABLE !!! Carrier testing is now possible by blood test...
- ML4 carrier testing and amnioscentesis is available at the following centers:
GeneDX (genedx.com)
Mt. Sinai Medical Center, New York City
Henry Ford Hospital, Detriot, Michigan
Genzyme Genetics (genzymegenetics.com)
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 led the way.
This was a good start to the 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.
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.
ML4 AND THE ML4 FOUNDATION TODAY
- 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.
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.  Click here to view the ML4 Foundation brochure. If you have trouble viewing the brochure, click here to download the free Acrobat plugin for PDF.
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