The Lowe Syndrome Foundation
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About Lowe Syndrome

How is it inherited?

Lowe Syndrome is inherited as an X-linked genetic trait and symptoms develop due to lack of the enzyme phosphatidylinositol 4,5-biphosphate 5-phosphatase. Both enzymatic and molecular testing are available for confirmation of the diagnosis and for prenatal detection of the disease.

What is Lowe Syndrome?

Lowe Syndrome (Oculo cerebro renal syndrome – OCRL) is a rare, metabolic, multi-system disorder affecting the eyes, nervous system and kidney. Bilateral cataracts and hypotonia (low muscle tone) are present at birth. Proximal renal tubulopathy (Fanconi type) becomes evident as well. Ocular complications such as glaucoma may occur soon after. Psychomotor developmental delays, retardation, seizures and behavioral problems may also occur.

How can I learn More?

For more information about Lowe Syndrome, click here. – This website has various information on Lowe Syndrome, as well as a variety of links to test your child for Lowe Syndrome.


Research

We are in the process of collaborating with Albert Einstein College of Medicine, to provide an Einstein medical student with a scholarship. This scholarship will be used to conduct research related to Lowe Syndrome. We are hoping to fund a full academic year, beginning in July of 2017, to assist researchers currently working on Lowe Syndrome and IPS cell research. Lowe syndrome, also known as OCRL, is a rare x-linked disease characterized by congenital cataracts, Fanconi syndrome of the renal proximal tubules, neurological dysfunction and developmental delays.

For more information, please contact clangert@montefiore.org.

Dr. Herb Lachman and Matt Degori


Past Research Scholarship

In summer of 2011, a $5,000.00 scholarship was presented to Matthew Lee. Matthew is an Einstein Medical student, who worked with Dr. Robert L. Nussbaum, MD, Chief of Medical Genetics at the University of San Francisco Medical Center. Dr. Nussbaum discovered the gene responsible for OCRL by positional cloning. He demonstrated that the gene encodes a phosphatidylinositol (4,5) biphosphate 5, that was shown to be enriched in the trans-Golgi network, and early endosomal compartments. Prior to joining UCSF, Dr. Nussbaum was Chief of the Genetic Disease research branch of the National Human Genome Research Institute.

Matthew Lee with Robert L. Nussbaum and Team.

About Us, The MDLSF

The Lowe Syndrome Foundation (also known as The Matthew DeGori Lowe Syndrome Foundation) has been organized to fund medical research and health related programs associated with Lowe Syndrome, LS (also known as OCRL – Oculo Cerebro Renal Syndrome). This genetic disease affects the eyes, kidneys, brain, and muscle tone. Developmental delays and mental impairment are also associated with LS. Lowe Syndrome is a terminal illness in which there is no known cure and treatment is symptomatic. There is very little available funding for research so I ask your help in making a donation today.

The foundation receives no funding from agencies such as United Way, nor any funding from the US government. The Lowe Syndrome Foundation is an all volunteer organization. No money received is used for salaries. Currently there are several critical research projects in progress that require significant funding. These research projects will hopefully lead to effective treatments and perhaps someday a cure for this dreadful disease.

The Lowe Syndrome Foundation is recognized by the US Internal Revenue Service as a public charity and as a section 501(c) 3 non-profit organization. The federal tax ID number is 80 · 0109430. Donations are tax deductible as to the extent provided by the law. We would be glad to provide any further information about our organization upon request.

Contact Us

Address:

The Lowe Syndrome Foundation
PO Box 557
Kings Park, NY, 11754


Phone:

(516) 578-6513


Email:

cdegori@aol.com