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About this Network

This network has been created to bring together people who would like to help find a cure for Niemann-Pick (Type C-1) disease. Aaditya is a sweet, adorable child who has been afflicted by NPC and there are many like him in this world. Learn more about this disease, prognosis, treatments and state of research and find out how you can help by browsing this site and Signing up on your right to get updates. Thank you and God Bless


Meet Aaditya

The first time you meet Aaditya, you just want to kiss his cheeks and give him a big hug. But you are inevitably greeted with a NO! However in the next few minutes you are enjoying his generous kisses and a very sweet smile.
Read more about Aaditya here>>

Donate to help find a cure!


Your donations to this not-for-profit organization will be channeled to research projects dedicated to finding a cure for Niemann-Pick (Type C-1) disease. When you help find a cure for Niemann-Pick Disease, you also help find a cure for other neurodegenerative diseases.
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Hope for Aaditya to
49697 S Glacier Ave
Northville Mi 48168

If you feel more comfortable making the donation to National Niemann Pick Disease Foundation you can do so by going to http://www.nnpdf.org/

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News on Niemann-Pick from across the world

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Happy Birthday Aaditya!

May you Celebrate with the Angels in Heaven! We miss you and Love you always!…

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Posted by duriya on February 14, 2012 at 8:12pm

Rose Cookies and Kal Kal Sale

It has been a year and four months since Aaditya left us to be with our Lord, but he continues to spread his laughter and his cheer.  We at Hope for Aaditya are back to uphold our commitment of touching lives through our Christmas fundraiser, with the sale of Rose Cookies and Kal Kals. For purchase or volunteering in Bangalore India please contact Tasneem Sara 9845298915.  Merry Christmas and lots of Love!

Posted by duriya on December 13, 2011 at 7:46pm

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There is no reason, Why there must be this suffering,
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Sachin Puri updated their profile
Jul 25, 2013
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Feb 29, 2012
mitali is now a member of Hope for Aaditya
Feb 21, 2012
duriya posted a blog post

Happy Birthday Aaditya!

May you Celebrate with the Angels in Heaven! We miss you and Love you always! See More
Feb 14, 2012
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Dec 27, 2011
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Christmas Fundraiser

"Ravi says: Tasneem and I have no words to thank all who gave so freely of their time and talent to make the kulkals & rose cookies for the fundraiser."
Dec 27, 2011
duriya posted an album

Christmas Fundraiser

It has been a year and four months since Aaditya left us to be with our Lord, but he continues to spread his laughter and his cheer. We at Hope for Aaditya are back to uphold our commitment of touching lives through our Christmas fundraiser, with…
Dec 27, 2011
duriya shared Ravi Dasgupta's photo on Facebook
Dec 27, 2011
 
 
 

Niemann-Pick Disease

Niemann-Pick disease is an inherited condition involving lipid metabolism (the breakdown and use of fats and cholesterol in the body) in which harmful amounts of lipids accumulate in the spleen, liver, lungs, bone marrow, and brain.

There are three variants of Niemann-Pick disease based on the genetic cause and the symptoms exhibited by the patient. All variants are inherited in an autosomal recessive pattern.

Mutations in the NPC1, NPC2, and SMPD1 genes cause Niemann-Pick disease.

This condition is inherited in an autosomal recessive pattern, which means two copies of the gene must be altered for a person to be affected by the disorder. Most often, the parents of a child with an autosomal recessive disorder are not affected but are carriers of one copy of the altered gene. If both parents are carriers, there is a one in four, or 25%, chance with each pregnancy for an affected child. Genetic counseling and genetic testing is recommended for families who may be carriers of Niemann-Pick.

Type C is characterized by onset in childhood, although infant and adult onsets are possible. Other signs include severe liver disease, breathing difficulties, developmental delay, seizures, increased muscle tone (dystonia), lack of coordination, problems with feeding, and an inability to move the eyes vertically. People with this disorder can survive into adulthood. The incidence of Niemann-Pick disease, type C is estimated to be 1 in 150,000 people. The disease occurs more frequently in people of French-Acadian descent in Nova Scotia.

Mutations in either the NPC1 or NPC2 gene cause Niemann-Pick disease, type C. The NPC1 gene produces a protein that is located in membranes inside the cell and is involved in the movement of cholesterol and lipids within cells. A deficiency of this protein leads to the abnormal build up of lipids and cholesterol within cell membranes.

The molecular basis for this disease is extremely complex due to the role that endosome formation has on affected patients. Recently, three theories have attempted to explain the buildup of cholesterol in the lysosomes of affected patients of Niemann-Pick Disease Type C due to the malfunction of the protein NPC-1.

* The contention by Neufel et al is that the buildup of mannose 6-phosphate receptors (MPRs) in the late endosome suggests that the retrograde breakdown of cholesterol via the Trans Golgi Network cannot occur.[1]

* Another theory suggests that the blockage of retrograde cholesterol breakdown in the late endosome is due to decreased membrane elasticity and thus the return vesicles of cholesterol to the Trans Golgi Network cannot bud and form.

The support of these theories has considerable evidence using mutant proteins in vitro to determine the buildup of cholesterol in the lysosomes. Researchers have also discovered that the NPC-1 protein may function as a pump of cholesterol.[2]

The overall effect of a malfunction in NPC-1 is that low levels or an absence of the protein lead to the abnormal accumulation of lipids and cholesterol in the cells of people with this condition.


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