Tuesday, August 9, 2022

Funded Research Grants

July 23, 2008 by  
Filed under Funded Grants

Childhood Alzheimers, Hempel, Addi and Cassi, Dr. Larry Goldstein, Stem CellsDr. Lawrence Goldstein
Howard Hughes Medical Institute
University of California San Diego

Dr. Goldstein is working to generate true human neuronal models of Niemann Pick Type C in cell culture and plans to analyze neuronal phenotypes by applying many of the assays and insights he has been developing from his studies in Alzheimer’s Disease (e.g, amyloid precursor protein synthesis, transport, proteolysis, JNK activation and phophorylation of tau and other substrates).

Childhood Alzheimers, Hempel, Addi and Cassi, Dr. Larry Goldstein, Stem CellsDr. Christoper P. Austin
National Chemical Genomics Center National Institutes of Health

Dr. Chris Austin is working on a project using highly sophisticated robotic technology to test over 4,000 approved FDA drugs against multiple lines of Niemann Pick Type C skin cells to determine if off label drugs can be used to treat NPC. The use of small molecule tools and screening technologies has traditionally been restricted largely to the private sector.  Dr. Austin has begun an ambitious program in chemical genomics to bring the power of small molecule screening, chemistry and informatics to the elucidation of gene function in the public sector and for rare disease such as Niemann Pick Type C. Co-funded project with the Ara Parseghian Medical Research Foundation.

Dr. Jung Suh
CHORIs Center For Nutrition and Metabolsim
Dr. Jung Suh of Children’s Hospital Oakland Research Institute (CHORI) under the direction of Dr. Bruce Ames is working on a metabolomic analysis of amino acids and related metabolites in Niemann Pick Type C disease. CHORI will conduct mass spectrometric analysis of  plasma, red blood cells, buccal epithelial cells and saliva.  Analysis will involve the application of liquid chromatography-linked tandem mass spectrometric methods developed by Dr. Suh. All analytical sample preparation and mass spectrometric analysis work will be performed in the laboratory of Dr. Ames at CHORI.

Kings College London Dr. David J. Begley
Pharmacology and Therapeutics, Blood Brain Barrier Expert
Kings College London

Dr. David J. Begley is the author of more than 60 key peer-reviewed papers on blood-brain barrier (BBB) function and drug delivery to the central nervous system. Dr. Begley is currently studying hydroxy propel beta cyclodextrin (HPBCD) to determine if this sugar compound crosses the blood brain barrier. Co-funded project with The Hadely Hope Fund.

SOAR-NPC collaborative
Silicon Valley HealthCare Company Helping Patients Start Virtual BioTech Companies
CollabRx builds and operates Virtual Biotechsfor foundations and patients who urgently seek treatments and cures for their diseases.  CollabRx has helped a small group of families with NPC children create SOAR-NPC (Support of Accelerated Research for Niemann-Pick disease Type C).

The SOAR-NPC Virtual Biotech is a cutting edge research collaborative between four leading Niemann Pick Type C researchers and universities including Dr. Daniel Ory of Wasington University in St. Louis, Dr. Francis Platt at Oxford University in England, Dr. Yiannis Ioannou of Mt. Sinai and Dr. Steven Walkley of Albert Einstein College of Medicine.

The SOAR-NPC collaborative is financially supported by The Addi and Cassi Fund, The Hide and Seek Foundation, DART (Dana’s Angel’s Research Trust), and The Hadley Hope Fund.

Zero Cholesterol Wild Mushroom Soup

July 4, 2008 by  
Filed under Recipe Submissions


3 1/2 cups organic vegetable broth
1 1/2-ounce package dried porcini mushrooms*

1 tablespoon olive oil
1 1/2 cups chopped onions
12 ounces assorted wild mushrooms (such as crimini and stemmed shiitake), sliced
8 ounces button mushrooms, sliced
3 garlic cloves, minced
4 teaspoons chopped fresh thyme or 1 1/2 teaspoons dried
4 teaspoons all purpose flour
2 cups soy milk
1/4 cup of cooking sherry (optional)


Bring broth to boil in medium saucepan. Remove from heat. Add porcini mushrooms to saucepan; let soak until mushrooms soften, about 20 minutes. Drain, reserving broth but discarding any sediment in broth. Coarsely chop porcini mushrooms.

Heat olive oil in heavy large pot over medium-high heat. Add chopped onions and sauté until tender, about 7 minutes. Add wild mushrooms and button mushrooms and sauté until brown and tender, about 8 minutes. Add minced garlic, thyme, and porcini and sauté 2 minutes. Sprinkle flour over; stir 1 minute. Gradually whisk in reserved porcini soaking liquid and soy milk. Bring to boil, stirring frequently. Reduce heat to medium and boil gently until soup thickens slightly, about 12 minutes. Transfer 1 1/2 cups soup to blender and puree until smooth. Return to pot. Bring soup to simmer. Season soup to taste with salt and pepper. Ladle soup into bowls and serve. Servings: Makes 4 servings

* Dried porcini mushrooms are sold at Italian markets, Trader Joe’s, specialty foods stores and many supermarkets.

A Little Girl From Beirut

July 4, 2008 by  
Filed under NPC Family Stories

Sawsan Moubarak is 8 years old and lives 45 minutes South of Beirut, Lebanon, in a town called Zefta, District, Nabatieh.

Her father, Jason, is an inspiration for all parents, especially me.  His wife gave birth to Sawsan and passed away in childbirth and he takes care of Sawsan and two other children; a girl, 13, and a boy, 10.   “After Sawsan showed symptoms of NPC, you can imagine how my life turned around, especially with her mother not here.  Words cannot describe the agony and sadness I am going through,” he told me.

Sawsan is now on Keppra 500 twice a day.  She has many, “narcolepsies and cataplexies: 5 to 6 times a day.  And seizures too, even with the Keppra, she has them once a week.”