Addi & Cassi HempelThree of Cindy and Mike Parseghian’s four children lost their lives to a disease called Niemann-Pick Type C, an extremely rare neurodegenerative syndrome without a cure. At Notre Dame, Kasturi Haldar works at the Center for Rare and Neglected Diseases, searching for a cure for this vicious genetic disorder.
Pre Duncan haircut and for the safety of all man kind before blast off.
I wonder which one actual ate their food? Umm I wonder...
Yeah one of them look like they are up to something?
I think they look happy????
Mike Is Looking For Employment
What can I really say? I am unemployed as of this week and that seriously endangers a lot of very important things to our family. I also wouldn’t imagine I would be writing about this situation pertaining to myself.
Currently there are several million people following in these shadows of unemployment. I recall thinking to myself before reality set in that I hope I don’t head down that road anytime soon! HELLO! I woke up on July 7th, headed into work and that reality took place finally that afternoon after we all attended a company meeting that six of us would be leaving the company officially on July 15th.
I remember telling Jennifer before our trip to Disney World (June 7, 2009) that I had a feeling this was a possibility even though the company was in good financial standings. It just seemed like you could smell it in the air. Some of you might not know what exactly I do but I am a business development professional for the online marketing and advertising world. I had a peace about it all if it turned out to be my head on the chopping block because I know things will be OK. Now I do not know what that “OK” looks like but I have faith it will be OK. In our industry it comes down to technology. If technology hits a wall and isn’t working properly…it doesn’t matter what skills you have to drive in new business, your simply not delivering the agreed upon actions to make revenue. That’s the bottom line. The results as follows and you can not keep taking net losses.
This could be a blessing in disguise! What will be important during this process and outside of this situation is to allow God to do the driving of what direction he wants my career to take. We all sometimes try to take the steering wheel at times. OK, I can’t pull your chain here. I am worried to a certain degree. I just pinched myself because I just discovered for the millionth time that I am human! I feel there is so much to loose…house, insurance, and our basic livelihood. Knowing that Brisan and Parker depend on our insurance to take care of their medical needs is certainly important but now the part will be how do we afford the Cobra payments? How do we pay the mortgage in the mean time? We do know that a subsidy is available to make the Cobra payments look much better (not that they are cheap)!
Duncan, Parker, & Brisan
My attitude and outlook I believe are positive and I know that a bigger and better opportunity for my family is awaiting my skills that I have been blessed with. A good friend of the Niemann-Pick family suggested that we put a list of needs on the front page of www.BriParDun.com. She simply stated that in order for people to help they need to know what your exact needs our. Me and Jennifer felt shied by the idea of it. On the other hand it would be foolish of ourselves to think that we don’t need to ask for help. I think asking for help when it is truly needed is very difficult because our society teaches that your a failure if you can’t do it on your own.
As Jennifer takes care of all the doctors visits and schedules of these events we have learned that Dr. Porter of the NIH would like to get Duncan’s DNA sequencing retested because he feels it wasn’t done properly to begin with last August/ September 08′. Then we are informed by Humuna that they do not want to pay for it because it has already been done. Well duh! We could have guessed that! I wonder how many millions of dollars in mistakes take place because of medical billing & coding errors? What we have been told is they didn’t completely do the sequencing. Duncan has his own issues and they are suspicious that he isn’t also affected with Niemann-Pick Type C.
Brisan Deep In Thought
We thank you for all your prayers. We thank you for any help you have given us in the past, present, and future. We feel that we are not able to give back sometimes but we really have been shown genuine love! In the coming few weeks we will work on posting a list of our specific needs as a mutual friend in the NPC community has suggested on the front page of the boys’ website. If your able to help in anyway whether that be employment opportunities or simple things that could help us alleviate some stress for our family we would be beyond humbled for your actions.
Brisan and Parker Stults – What is NPC?
Researchers Identify Cholesterol-Regulating Genes
Posted on: Tuesday, 7 July 2009, 16:05 CDT
Scientists at the European Molecular Biology Laboratory (EMBL) and the University of Heidelberg, Germany, have come a step closer to understanding how cholesterol levels are regulated. In a study published today in the journal Cell Metabolism, the researchers identified 20 genes that are involved in this process. Besides giving scientists a better idea of where to look to uncover the mechanisms that ensure cholesterol balance is maintained, the discovery could lead to new treatments for cholesterol-related diseases.
“This finding may open new avenues for designing targeted therapies, for example by looking for small molecules that could impact these genes,” says Heiko Runz, whose group at the University Clinic Heidelberg carried out the research together with Rainer Pepperkok’s lab at EMBL.
High levels of cholesterol in the bloodstream are a major risk factor for atherosclerosis and coronary heart disease, one of the leading causes of death in developed countries today. Nevertheless, cholesterol is an important cellular component: 90% of the cholesterol in our bodies is inside our cells, where it does not cause any harm
. Blood cholesterol levels are partly regulated by cells taking up cholesterol from the bloodstream, a process Runz and his colleagues are helping to unveil.
The researchers deprived isolated human cells of cholesterol and then looked at the whole genome to find the genes that react to changes in cholesterol levels by altering their expression. This large-scale approach pointed to hundreds of genes which might be involved in cholesterol regulation. To check which genes really were involved, the scientists used a technique called RNA interference to systematically turn each of the candidate genes off. With a microscope they then observed what effect switching off different genes had, both on cholesterol uptake and on the total amount of cholesterol inside cells.
Of the 20 genes the scientists identified as involved in regulating cholesterol levels and uptake, 12 were previously unknown. The remainder were known to have some link to lipid metabolism – how the body breaks down fat – including two genes that when mutated may cause heart disease, but which were only now shown to also play a part in bringing cholesterol into cells in the first place.
The scientists are now trying to discover exactly how the novel genes regulate cholesterol levels inside cells, as well as looking at patients to determine whether these genes (or alterations in them) do constitute risk factors, and investigating if and how they could be useful drug targets.
This discovery could help fight not only heart disease, but also other conditions, as one of the genes identified appears to influence the behaviour of NPC1, a protein involved in the neuro-degenerative Niemann-Pick disease.
The research was conducted under the Molecular Medicine Partnership Unit (MMPU), a collaboration between EMBL and Heidelberg University. “It is very convenient to have such a close partnership here in Heidelberg”, says Rainer Pepperkok from EMBL, adding, “it allowed us to use the sophisticated techniques and technology from EMBL to answer questions that first arose at the University clinic, whose clinical aspects will now help in the follow-up.”
Researchers Identify Cholesterol-Regulating Genes
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