Now researchers from the Children’s Hospital of Philadelphia and the Donald Danforth Plant Science Center have teamed up together to take the research a step further. Further research continues to suggest that properties of this common plant and beverage could hold the promise of a cure for those living with a disorder. The results of the research are presented in the August 3, 2011 issue of The Journal of Biological Chemistry.

In the article, “Green Tea Polyphenols Control Dysregulated Glutamate Dehydrogenase In Transgenic Mice By Hijacking The ADP Activation Site,” it is demonstrated that two compounds found naturally in green tea were able to turn off the dysregulated glutamate dehydrogenase in mice that carry the same form of the disease as humans with HI/HA. This research shows that properties of green tea known as EGCG and ECG have the potential to stop the overproduction of insulin in patients with hypoglycemia due to the hyperinsulinism/hyperammonemia syndrome. The research is very promising and the HI community looks forward to practical applications that could result from this groundbreaking work.

Dr. Barthlen of Griefswald, Germany, explains that the patients who have successfully undergone these 40% partial pancreatectomies are part of a sub-set of patients who have diffuse HI. He writes that they have the “so-called atypical segmental mosaic congenital hyperinsulinism. This means that one or few local acculumations of pathological islets are side by side with almost normal pancreatic tissue” within the same pancreas. Using a PET-CT, he is able to locate where these “hot spots” on the pancreas are likely to be. Dr. Barthlen only operates on patients that cannot be well managed with medication.

During surgery, Dr. Barthlen performs biopsies to locate the cells. Only then does he surgically remove the diseased cells, leaving the healthy ones intact. Dr. Barthlen believes that if 60% of the pancreas remains, the HI patients will not become diabetic in puberty. Dr. Barthlen adds that “in most cases the surgery can be performed by laparoscopy so that scars are minimal.” Dr. Barthlen explains that this type of surgery would not be effective for patients who have pathological cells throughout their pancreas but he does believe that further research will show that there are a fair number of patients with atypical segmental mosaic congenital hyperisulinism.

In February, 2011, Dr. Barthlen was Guest Editor, along with Dr. Pascale De Lonlay, a member of the Congenital Hyperinsulinism International Advisory Group, of the periodical, “Seminars in Pediatric Surgery.” The entire issue was devoted to HI and many members of our Advisory Group published in the periodical. We have linked it to the website. There is a wealth of material there.

In addition to serving as Director of Pediatric Surgery in Greifswald, Dr. Barthlen is a professor of Surgery. He has been working in the field of HI since 2002 when he was at the University Hospital in Berlin. We will invite Dr. Barthlen to present at the Congenital Hyperinsulinism International Family Conference which will take place in Philadelphia, Pennsylvania March 17 and 18th, 2012. I hope he can make it!

Here is the link to the press release: http://www.eurekalert.org/pub_releases/2011-03/uom-tbf031511.php.

A link to the study abstract can be found here: http://diabetes.diabetesjournals.org/gca?gca=diabetes%3Bdb10-1443v1&submit=Get+All+Checked+Abstracts

More relevant to us, news media sources reported on promising results in research studies on the artificial pancreas. This phase of research involved controlling the blood sugar of pregnant women with Type 1 diabetes. The results were mostly positive and you can read all about it here: http://articles.latimes.com/2011/feb/02/news/la-heb-artificial-pancreas-20110202

Some HI patients and parents wonder if any of this research will lead to a medical device that will be helpful to patients with HI. A device that automatically controls blood sugar levels for HI patients as well as those with diabetes would be “a dream come true.”

CHI will interview artificial pancreas researchers and HI researchers to learn more about the applicability of this research to the HI population. We’ll report back on our findings here.

In the meantime, an excellent chronology of research on the Artificial Pancreas Project and other milestones in the treatment of diabetes can be found on the Juvenile Diabetes Research Fund Website. Take a look: http://www.artificialpancreasproject.com/milestones/default.html

I am writing to tell you about an excellent opportunity to spread awareness about HI and to share your opinions about the importance of information sharing for taking care of yourself or a child with HI. The attached electronic survey which is being conducted by NORD, the National Organization of Rare Diseases, an umbrella organization that advocates for and supports individuals living with rare diseases and the Pew Research Center, a media think tank, will be used as an important source for a research paper on how people with rare diseases gain and share information.

There are many reasons to take part in this study. One good reason is to raise awareness at NORD and Pew about HI. These are both powerful organizations and the more they know about HI, the more likely it is that HI will receive media attention. You never know, the study could be quoted in newspapers with large circulations, on TV news, or on the Internet, and HI could be part of the quoted material.

I took the electronic survey and found it very interesting. One thing that came to mind for me as I took the survey was what an amazing source of information the online HI community has been for me since I started participating in 1999 in listserv groups, websites, and now Facebook.

The electronic survey cover page will ask for a user code. You can use 1111. Please make sure to answer the questions all in one sitting and to do so within the next couple of weeks.

This is the link to the questionaire:

http://www.psra.com/nordsurvey.html

The following is an explanatory letter from NORD about the study. This letter was sent to CHI, which is a member of NORD.

Thanks so much for taking the time to fill out the electronic survey. Your experiences and opinions matter!

Julie Raskin

Dear NORD Members,

We are writing to ask you to join NORD in a very important project to raise awareness of rare diseases and the challenges encountered by patients and their families.
NORD is partnering with the Pew Research Center to conduct an informal study of how people with rare diseases obtain and share information about their diseases and available resources.

We are asking you to tell your members about this study and to encourage them to complete the short survey to ensure that as many rare disease organizations as possible are represented in this survey.

You are probably familiar with the Pew Internet and American Life Project, which has published several widely publicized studies of how Americans use the Internet. Since the Internet has particular implications for people with rare diseases, Pew and NORD feel it is important to document ways in which the Internet is used by this particular population.
It takes just a few minutes to complete the survey, and it is not necessary to answer every question. Also, responses will be partly anecdotal: Respondents will be invited to elaborate on their own experiences if they choose to do so.

This project is being done in conjunction with Rare Disease Day, and the results will be released to the press—and to all of you—in February, just before Rare Disease Day. Because Rare Disease Day is all about education and raising awareness, NORD is very happy to partner with Pew in this project designed to educate all Americans about specific rare diseases and the challenges associated with having a rare disease.

Please post the link to the survey on your website or distribute it in other ways to your members. The survey will be available for just three weeks, so it is important to distribute this information as soon as possible. Please also feel free to post the link on Facebook, Twitter or any other communications channels that you use. NORD will be doing the same.

We appreciate your help in this project and—even more—your support for Rare Disease Day and its goal of raising awareness across our nation and around the world of rare diseases as an important public health concern.

Link to online survey: http://www.psra.com/nordsurvey.html

Sincerely,

Peter L. Saltonstall
NORD President and CEO

Here is an exerpt:

Mutations in ABCC8, KCNJ11, GLUD1, GCK, and HADHSC are known to be associated with FHI. About 45% of affected individuals have mutations in ABCC8 and about 5% havemutations in the coding region of KCNJ11. Approximately 5% of individuals have activating mutations in GLUD1. Rarely, affected individuals have activating mutations in GCK or inactivating mutations inHADHSC. About 40% of individuals with FHI do not have an identifiable mutation in any of the genes known to be associated with FHI. In the Ashkenazi Jewish population, two ABCC8 founder mutationsare responsible for about 90% of FHI. Another ABCC8 founder mutation, V187D, is present in the Finnish population. Mutation analysis for these two mutations and mutation scanning and sequence analysis of ABCC8, KCNJ11, GLUD1, and GCK are available on a clinical basis.

Find the full article here.