LONDON – Researchers at University of Iowa have discovered a way to turn the blood brain barrier into a production and delivery system for getting therapeutic molecules directly into brain cells.

Working with animal models of a group of fatal neurological disorders called lysosomal storage diseases, the researchers found that these diseases cause unique and disease-specific alterations to the blood vessels of the blood brain barrier.

The scientists used these distinct alterations to target the brain with gene therapy, which reversed the neurological damage caused by the diseases.

The findings could lead to a new non-invasive approach for treating neurological damage caused by lysosomal storage diseases.

“This is the first time an enzyme delivered through the bloodstream has corrected deficiencies in the brain. This provides a real opportunity to deliver enzyme therapy without surgically entering the brain to treat lysosomal storage diseases,” Nature quoted lead investigator Beverly Davidson as saying.

“In addition, we have discovered that these neurological diseases affect not just the brain cells that we often focus on, but also the blood vessels throughout the brain. We have taken advantage of that finding to delivery gene therapy, but we also can use this knowledge to better understand how the diseases impact other cell types such as neurons,” she added.

Lysosomal storage diseases are caused by deficiencies in enzymes that break down larger molecules. Without these enzymes, the large molecules accumulate inside cells and cause cell damage and destruction.

Enzyme replacement therapy has been successful in treating one form of lysosomal storage disease called Gaucher disease.

However, storage diseases that affect the central nervous system remain untreatable because it has not been possible, to this point, to get the missing enzymes past the blood-brain-barrier and into the brain.

“Our discovery allowed us to test the idea that the brain cells might be able to make use of the reintroduced enzyme to stop or reverse the damage caused by the accumulated materials. In the treated mice, the affected brain cells go back to looking normal, the brain inflammation goes away and the impaired behaviours that these mice have is corrected,” said Davidson.

The study was published in Nature Medicine’s Advance Online Publication (AOP). (ANI)

Which is why myself and a few other moms are determined to find something to save our children. We’re working to raise money to pay a research team to work specifically on GD 2/3, and with the help of various Gaucher organizations, we’re going to do just that.

I think of all the children with Gaucher Disease Type 2 and 3 as the “forgotten children”, because they don’t even have a fighting chance. Unlike cancer where they have things that can be used to beat the disease, there is nothing to give the kids with GD 2/3 a fighting chance to beat and survive this disease. Nothing…

And to think that we were so relieved when they told us that Kyle didn’t have cancer last October when he was hospitalized for testing. If I we only knew…

Now as awful as it is for any child to have to suffer through cancer and I don’t wish it on any precious child; an article from the American Cancer Society states that childhood cancers are mostly treatable. In fact, according to a study, 97% of patients achieve complete remission.

So is it any wonder that I wish Kyle’s diagnosis had of been cancer, that he had of been given a 97% survival rate? And because he would have been diagnosed at 3 1/2 months old, they would have caught it so, so early. I mean, by now his treatment could have been done and over with, he could be in remission and living a normal life. 

Instead, he was diagnosed with Gaucher Disease Type 3 with a 0% survival rate.

But imagine if the same funding and research that goes into Cancer, went into rare diseases like GD 2/3. And it’s not only this disease that would benefit from research, but so many other diseases that effect the brain – like Parkinsons, which is linked to GD 2/3 and has so many similar symptoms.

Back to putting together a research team…I’ve already started organizing an online fundraiser to raise money for research, and I’ve been blown away by the response. It’s really starting to snowball as people I know and work with online jump onboard, and tell others.

Which means, I’m formally registering my charity ”Neuronopathic Gaucher Foundation” and 100% of money raised and donated with go directly to research. That way people who donate can claim it on income tax, and the charity won’t have to pay taxes on the money raised.

Carrie Ostrea is working directly with the National Gaucher Foundation in the US to get a formalized research plan and structure together. The concept is to attempt to create an umbrella with all the Gaucher organizations and other related diseases, and get them to work together and create a common point where all the research information is kept updated, and work on finding research that could make a difference for the kids who are here today, still fighting. 

And I’ve been talking to the president at the National Gaucher Foundation of Canada with hopes of getting their help, and I also have an upcoming meeting with a PR gal to work on spreading the word and getting the attention of the media.

I can’t just sit back  and let my sweet little boy die without a fight. No one is going to step up to the plate, and save all these kids who’ve been forgotten because their disease doesn’t effect hundreds of thousands. Does that make it right – to just let all these children die because there aren’t enough of them?

I mean come on, we’re in the 21st century for goodness sakes. They can do open heart surgery on a fetus still inside the mother’s womb, but we can’t find a treatment to kill off the Gaucher cells that live in brains of these children, stealing their lives? If only they could just inject the enzyme replacement therapy directly into their brain…

A team led by Shoji Tsuji of the University of Tokyo, and Tatsushi Toda of Kobe University discovered that those with a mutation in a gene called GBA are 28 times more likely to contract Parkinson’s disease. They now hope to use their finding to explain exactly how the disease is caused, and develop a treatment.

There are an estimated 150,000 cases of Parkinson’s disease in Japan. In 90 percent of the cases, however, they are the only members of the family to contract the condition, and the genetic component of the disease has never been identified.

However, the team noticed that the GBA gene, which is responsible for causing an unusual condition called Gaucher’s disease, also showed a mutation in those with Parkinson’s disease.

They examined 534 Parkinson’s patients and 544 healthy people, and found that 9.4 percent of those with the mutation suffered from the disease, and just 0.4 percent did not. They also discovered that those with the GBA mutation contracted the disease around six years earlier than those without.

“It’s the first time that a risk factor has been this clearly identified,” said Tsuji.

This is her message:

Hey,

I’m sending this message off the Gaucher’s mailing list, as this message is just for those of us with children who are still fighting against neuronopathic Gaucher’s Disease. Would you believe that there are thirteen families in this group?

I have been in talks with the National Gaucher Foundation, and they are enthusiastically joining our fight for our kids. They are creating an entire GD23 section within their organization for creating awareness, raising funds, and to help further research into finding our kids a treatment. The list that they have already offered in just a couple of conversation is just overwhelming, and I’m so excited about the fact that this is just the vehicle we need to help raise awareness and funds!

I’ll share much of it on the mailing list later this week, but one of the things they are going to do is to create a GD23 section in their quarterly newsletter. I am going to be in charge of this section. I want the GD1 community to not only know that GD23 exists, but how devastating THEIR disease is to families. Almost all people with GD1 think that is it — just some painful physical symptoms and lifelong treatment. They don’t have any clue as to what GD23 really are. They are our biggest audience, and the ones most willing to help us spread the word and help raise funds.

Within this section, I want to give updates on ALL of our children that are still fighting. I hope that all of you are willing to participate in this quarterly section. It is SO important that people reading this quarterly newsletter (which goes not only to the entire GD community but also physicians offices, related disease organizations, etc.) get to know our kids and want to fight for them with us.