Tuesday, July 25, 2017

RareArtist.org – Rare Art Created by Rare People to Support Rare Disease Awareness

August 20, 2010 by  
Filed under Rare Disease

What a great idea — a new website to showcase Rare Art created by Rare People to support Rare Disease awareness.  The Kakkis Everylife Foundation has launched RareArtist.org for artists of all ages affected by a rare disease. There are almost 7,000 rare diseases that affect more than 25 million Americans — many of them [...]

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Alzheimer’s Patients Presenilin 1 Gene Defect Causes A Lysosomal Storage Disorder

June 10, 2010 by  
Filed under Featured Stories

A research paper by Dr. Ralph Nixon, director of the Center of Excellence on Brain Aging and the Silberstein Alzheimer’s Institute at NYU Langone Medical Center, was published today in the journal Cell reporting that Alzheimer’s patients with genetic mutations in the presenilin 1 gene have disruptions in the cellular protein recycling process mechanisms in [...]

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Kids Living With Dementia Diagnosis – 4 Year Old Johnathan Spenser’s Story

May 19, 2010 by  
Filed under NPC Family Stories

  Johnathan Spencer has Niemann Pick Type C disease like Addi and Cassi. Embracing every moment Thursday, April 29, 2010 By Sara Suddes (ssuddes@gilroydispatch.com):  Photo by: Lora Schraft, Staff Photographer, Gilroy Dispatch   Every morning, Johnathan Spencer’s mother dissolves the contents of a pill containing an experimental drug into a cup of water, draws the solution into a syringe [...]

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FDA Grants Orphan Drug Status For Cyclodextrin Compound To Treat Fatal Genetic Cholesterol Disease

May 16, 2010 by  
Filed under Featured Stories

Drum roll, please! Dr. Caroline Hastings at Children’s Hospital Oakland and Research Center received a call on Friday afternoon from the U.S. Food and Drug Administration regarding the orphan drug submission we made at the end of February. While we have not received the official letter by mail (probably next week), it appears our Orphan [...]

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Dementia in Children and Teens – When Kids Brains Regress Like The Elderly

March 21, 2010 by  
Filed under Alzheimers, Featured Stories

The Alzheimer’s Society and Alzheimer’s Association have lots of information on caring for people with dementia but no resources on their website for people caring for children, teens and young adults suffering from dementia. There are many kids who have dementia as a result of rare diseases even though most people think dementia strikes the [...]

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