PET Neuroimaging of Addi and Cassi’s Brains at Children’s Hospital Michigan

A Look Inside The Brain – Scans Of Twins, Addi and Cassi from Addi & Cassi Hempel on Vimeo.

A video of our trip to Detroit to visit Children’s Hospital Michigan to have PET neuroimaging brain scans done on our four year old identical twins, Addi and Cassi. These scans have not been done before on children with Niemann Pick Type C disease, also known as the “Childhood Alzheimer’s.” We hope these brain PET scans lead to new insights into neurological diseases of all types.

Funded Research Grants

Dr. 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).

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Dr. 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.

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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.

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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.

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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.

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A Little Girl From Beirut

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.”

Coriell Institute: The Value of BioBanks To Further Medical Research

I had never heard of the term “BioBank” or biorepository until my 4 year old identical twins, Addi and Cassi, were diagnosed with a fatal disease called Niemann Pick Type C, otherwise known as the “Childhood Alzheimer’s.”

Since receiving this nightmare diagnosis, I have become familiar with many organizations I had no idea existed, including an nonprofit research organization called the Coriell Institute based in Camden, New Jersey.  Coriell is a leading biobank that is funded by the NIH and they are dedicated to understanding human genetic diseases.

Coriell collects human biospecimens from people with all types of diseases ranging from Epilepsy to Parkinson’s to Rett Syndrome.   As scientists study the connection points between genes and diseases, they are finding many diseases have complex patterns of inheritance.

I have submitted Addi and Cassi’s “biospecimens” — things like tissue and blood samples — to Coriell which are now being analyzed and stored in tanks.   When researchers are interested in studying Niemann Pick Type C diesase, they order biospecimens from Coriell so they can try and understand the molecular characteristics and clinical progression of the disease.    Once Addi and Cassi’s NPC mutation is fully analyzed, it is given an anonymous number and will be represented by a red dot on Chromosome 18 and can be ordered from Coriell.

Addi and Cassi’s DNA will essentially live on forever in these tanks and my hope is someday their DNA will help solve something researchers have not thought of yet.  Maybe their identical twinship will prove even more important to understanding disease than the genetic disease they were born with?  Who knows, but it’s interesting to think of the possibilities.

Cures for human disease can only happen faster with biobanks providing researchers with critical genetic material.  I am eternally grateful to the NPC families who have already contributed to Coriell’s biobank.   Most of these NPC children have passed away but they live on through current research work and they are now trying to help save Addi and Cassi’s lives.

I hope people who have the opportunity to provide samples to biobanks like Coriell will do so in the future and without fear.  The good news is that the newly enacted genetic discrimination law (GINA) bars health insurers from using genetic information to make coverage decisions.   Many Americans have been reluctant to take advantage of breakthroughs in genetic testing for fear of “genetic discrimination” and that the results could deny them jobs or health insurance.

ReThink IT Video: A Story About Alzheimer’s

An Alzheimer’s video I made for the 2008 election.

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