Spotlight on New Investigators

MPD Foundation's staff and board are constantly revisiting what it means to fund research that produces results.  We look at the various ways the work we fund affects patients - from available treatments to increasing their understanding of the scientific underpinnings of their disorder.

We also happen to be impacting the lives of those in the research community, including a group we've focused on through our last two grant cycles: new investigators.  

This is a group we define as being new to the field of MPN or simply new to independent research and desiring to work in MPN.  Although we've funded up and coming researchers in the past, since 2008 it has been a goal of ours to target this group for funding along with our grants to more experienced investigators.  Both types of investigators are working towards the goal of finding the causes of and potential cures for the myeloproliferative neoplasms.  

On that note we'd like to introduce some of our newest grant recipients:

Wei Tong, PhD, Children's Hospital of Pennsylvania

Dr. Tong will be working on a project titled "K63 Ubiquitination in JAK2 Signaling and Myeloproliferative Neoplasms".  The bottom line is that Dr. Tong is trying to determine how LNK affects JAK2 signaling.  JAK2 is basically an on-off switch whose malfunction is present in many MPNs.  LNK normally regulates the JAK2 switch to prevent myeloproliferation; mutated versions fail to turn off the signaling.  

Toshiaki Kawakami, MD PhD, La Jolla Institute for Allergy and Immunology.

Dr. Kawakami's project is titled "SPS Complex in MPD".  In this project he will be studying a series of genes whose absence in mice is known to cause tumors and myeloproliferative neoplasms.  His hypothesis is that the same thing happens in humans, and if correct, the discovery could lead directly to new therapeutic targets for MPN drug development.

Saghi Ghaffari, MD PhD, Mt. Sinai School of Medicine

Dr. Ghaffari's project is titled "Understanding Molecular Mechanisms of Regulation of Myeloproliferative Disorders in Mouse and Human".  With this project Dr. Ghaffari will be investigating a different signaling mechanism altogether whose failure may be responsible for myeloproliferation.  This is important because the JAK2 mutation is not present in all MPN patients; there must be at least one other mutation to account for those cases.


We will monitor their progress and report back as their work develops.  As one of the only organizations serving the needs of patients with myeloproliferative neoplasms we are committed to not only funding such projects but also to providing information and support for MPN patients.    

Vote to help NORD's rare disease registry

NORD is the National Organization for Rare Disorders.  They bring individuals and organizations together who have one important thing in common: having or working in rare disorders.  We've mentioned our participation in their medical meetings before.  Today we discovered a new opportunity to help them create a better registry of rare diseases that is accessible to patients.  

Pepsi's Challenge Refresh Program has selected NORD to be in the running to receive $50,000 to improve and expand their registry of diseases. NORD would like to make their existing registry more user friendly, including adopting language that is more comprehensible to patients and the lay public.  

We are pleased to say that helping NORD (and, by extension, people living with a rare disorder such as MPD / MPN) is free and easy.  Just register here and vote for NORD's project.  The 10 organizations who receive the most votes will each win $50,000. For the 1 in 10 people in the United States who have a rare disease (and more internationally), having access to information on their disease is vital in managing their treatment and symptoms. 

We at MPD Foundation believe it is important to partner with organizations who are working in the area of rare diseases.  There is potential for our struggles and strengths to overlap and help each of us understand our respective struggle.  Our relationship with NORD is just one of many we have established in the orphan and rare disease community. 

San Diego Symposium Brings the Experts to the Patients

Guest post by Ann Brazeau

Keynote speaker Dr. Catriona Jamieson addresses the crowd

The MPD Foundation hosted a patient educational symposium in San Diego on October 25^th at the UCSD Moores Cancer Center in La Jolla.  Each speaker commended the attendees for taking an active role in learning about their rare blood cancer and for supporting research and awareness efforts to ensure better treatments and care.  They agreed that patients are key advocates for changing the course of their future. 

There was a brief discussion about why the World Health Organization changed MPD (Myeloproliferative disorders) to MPN (Myeloproleferative neoplasms) and why it was important.  This change clearly specifies and classifies the disease as a blood cancer.   Data is collected and gathered appropriately when a patient is diagnosed.  This change will also ensure payment from insurers who were skeptical about the classification of the disease as a cancer.

Our keynote speaker, Dr. Catriona Jamieson, MD, PhD, is an Assistant Professor in the Medicine Hematologic Malignancies Program and Director of Stem Cell Research at UCSD. Dr. Jamieson found that a specific mutation in the JAK2 signaling molecule occurs at the stem cell level in polycythemia and changes cell fate decisions in primitive hematopoietic cells. She discussed the possibility of using combination therapies for MPN patients since one drug may not manage all the symptoms.  Dr. Jamieson has earned great respect in the field and is a committed clinician who sees numerous MPN patients at the center.

Drs. John Crispino and Ross Levine speak to patients

After the presentations patients formed groups specific to their MPN.  A clinician/researcher joined each group and answered questions from individuals.  Patients were able to share their stories and get feedback from the experts and fellow patients.

The MPD Foundation will continue to advance research and bring updates on MPD research to patients.  These sessions are held in order to empower patients and give them the tools to successfully manage their disease.  By assisting primary care physicians, hematologists/oncologists and pathologists in hearing cutting edge information, we better equip them in diagnosing and treating patients, advancing treatment options in their own way.

We extend a special thanks to our sponsors, Incyte Corporation, Sanofi-Aventis and Cytopia/YM Biosciences.

Click here to view a specific speaker or the entire presentation via web cast. 

Whirlwind of activity

Wow - is it mid-November already?!  It must be, since we finished hosting our final MPD patient symposium of the year and are starting to think about wrapping up 2010.  We've also finished our review of the grant applications we received for the RFP issued this May.  I say "we", but what I really mean is the panel of experts we bring in to assist us in evaluating proposals on their scientific merit.  

Grant reviewers reviewing proposals in Chicago

Last week we asked 14 experts who specialize in the myeloproliferative disorders to join with our existing Scientific Advisory Board to evaluate the proposals we received in the New Investigator and Established Investigator grant categories.  Though our funding decisions won't be announced until February, we can say that the proposals we received covered new ground in MPD research and we are looking forward excitedly to determining what we can fund in the 2011 grant cycle.       


In addition to this we've also just received our first printing of the Spanish translated MPD brochure.  This is the only informational, free brochure on the myeloproliferative disorders to be translated into Spanish.  After repeated requests from the international and domestic physician community we are so pleased to now have something for both English and Spanish speaking patients! 

Can Environmental Causes Be Behind Some Cases of Polycythemia Vera?

By Ann Brazeau

In August 2008, ATSDR and PADOH organized a meeting with a panel of experts in Philadelphia.  Medical researchers, environmental scientists, and public health professionals met to review the findings and recommend future studies. Four major research areas were identified: epidemiology, genetics/biomarkers, toxicology, and environmental analysis.
 
The PV cluster in Carbon, Luzerne and Schuylkill counties will require a great deal of  assessment of a host of possible environmental influences including hazardous waste sites, industrial emissions and waste, and naturally occurring radiation sources as well as possible genetic risk factors. Because the area was allocated a substantial amount of federal funding to study the specific causes, comprehensive research can be conducted that will not only benefit the local community but the entire MPD / MPN (myeloproliferative neoplasms) community.  

For this rural community in Pennsylvania, the increased benefits are evident with local physician awareness, the formation of a patient support group, access to PV patient clinical trials, a community JAK2 screening and follow-up study, testing of residential properties and nation-wide attention to an orphan disease that otherwise can go unnoticed.  The MPD Foundation has paid very close attention to this evolving story in Pennsylvania and  has supported and assisted the Centers for Disease Control, researchers, and the patients in those counties.


* This article appeared in the Fall 2010 edition of MPDUpdate.  To begin receiving this free newsletter click here.

New digs and new grants

In June the MPD Foundation moved from a shared sublet at Willis (nee Sears) Tower to a new office on Michigan Avenue .  In addition to cheaper rent, this new space offers a better layout for Foundation staff and volunteers.  And with this new space comes a new opportunity to show it off.  As such, those in the Chicagoland area are invited to attend our House Warming on Thursday, September 30, 2010 at 5:30.  For more details or to RVSP contact Juliana at jgordon@mpdfoundation.org or 312-683-7249.

In addition to new space we are also looking forward to making decisions regarding the new grant proposals we received with 2010's request for proposals.  Between our New Investigator and Established Investigator programs we have received over 40 proposals.  A cursory review suggests some exciting opportunities to accelerate research into the myeloproliferative disorders: polycythemia vera, essential thrombocythemia and myelofibrosis.  In November the MPD Foundation's Scientific Advisory Board will work with an additional team of reviewers to score these proposals on the basis of scientific merit, relevance to MPDs, and potential for collaboration.  We make our funding decisions and announcements in February 2011. 

The MPD Foundation has always been focused on fostering collaboration among researchers as well as between the research community, industry and clinicians.  We made a specific plea in the 2010 Challenge Grant request for proposals (RFP) for proposals that highlighted collaboration.  It is our belief that research occurring in a community instead of a silo will facilitate faster breakthroughs that will help patients.  We now know that we are not alone in our belief as more patient-driven and research focused non-profits benefit from this model of operation.  It is our goal to make this new way of doing business work for MPD patients now. 

Not your mother's PV: A young patient's battle with Polycythemia Vera

Special guest post by PV patient Donna B.  

The polycythemia vera part of my story began in August 2006, when I was diagnosed.  I went to the hospital with abdominal pain and an enlarged spleen, and several tests (and weeks) later I started phlebotomy treatments.  I was 29 years old.  That’s not the whole story.  

In January 2002, I was diagnosed with a portal vein thrombosis – or as I tell most people “a blood clot in my liver.”  That diagnosis came after several weeks of abdominal pain and several wrong diagnoses ranging from gastritis to a pulled muscle.  Back then, the clot was attributed to Factor V Leiden, a genetic clotting disorder that, while still uncommon, is more common that PV.  The Factor V Leiden diagnosis effectively masked the fact that I also had PV until 2006, when I tested positive for JAK2.

Really, the story begins as early as summer 2000, when I began experiencing chronic headaches and fatigue.  Checked against the headache symptoms I dug up online, I found that my headaches combined features of tension headaches (pressure on the back and sides of my head), migraines (visual aura) and cluster headaches (stabbing pain over one eye).  I figured that all of these symptoms must be stress-induced, and kept them in check with over-the-counter pain relievers.

I’ve been on Coumadin since that clot was discovered in 2002, and while it was enough to keep my alive, it clearly wasn’t enough to keep me healthy.  I spent a lot of time in the hospital between 2003 and 2005, and have the scars to prove it.  

Phelobotomy ended up not being enough to keep me healthy, either.  Week after week, pint after pint of my “extra thick and chunky style” blood was drained, and yet my spleen was still causing me pain. As long as I sat perfectly still I was reasonably comfortable.  A slow shuffle was bearable for short distances.  The acts of sitting down and standing up were agony.  It was like being kicked in the stomach and kidney at the same time.  Lying down to sleep was not an option.

So, I began taking Hydroxyurea.  My doctor had some reservations about me taking it, because I am young for a PV patient, and long-term risks of taking the drug haven’t been completely ruled out.  I took it for a year with no side effects.  The pain in my spleen finally resolved, and my phlebotomy treatments were reduced to every couple of months.

Weekly Pegasys injections had been mentioned to me as a treatment back in 2006. Because it was seen as very promising and doesn’t carry the long-term risks, I wanted to try it right away. Unfortunately, my insurance wouldn’t pay for it.  It would, however, pay for thrice-weekly Interferon injections, which I began in October 2007.

Headaches.  Fevers.  Achy joints.  It was like I had the flu three nights a week.  I sometimes felt very tired the next day. My hair thinned.  I never got depressed, but I think the darker, more introspective side of my personality became more dominant.  My tastes changed, too: I stopped putting sugar in my coffee and switched from eating cereal for breakfast to eating yogurt.  

Why did I stay on it?  I didn’t mind the changes that much. What mattered was how I felt overall, and overall I felt pretty good. I adjusted to the symptoms, taking the shot just before bed and chasing it with a couple of Tylenol.  I started playing softball with some friends and found that when I was outside on the field I felt better than I had in years. 

I took Interferon for two years.  The symptoms eased up after the first year.  Now, I only felt flu-ish one night a week.  I got used to jabbing myself with a needle.  Then, last December, I stopped.  There had been a recall of the form of Interferon that I was taking, and I had to switch to a different form.  For whatever reason, my blood counts dropped.  My doctor thought I’d be better off without the Interferon for a few weeks. When I went in for my next blood test, my counts had all risen again.  It seemed clear that they would keep rising if left unchecked.  Coincidentally, a new study had just been released that extolled the benefits of Pegasys for PV patients.  I walked out of the clinic that day with a one-month supply.

I’ve been on it since then.  If there are side effects, I don’t notice them.  I no longer shed more hair than my dog.  I can take my weekly shot and leave the house without feeling sick.  The most inconvenient aspect is that I have to visit the doctor every couple of weeks for a blood test.  Pegasys has been very effective for me, as well.  I started on 90 miu a week, and now I’m down to 45 miu every other week.  Even at this level, my counts are at the low end of normal.  I think that, if I had never had PV then this is where my blood counts would naturally gravitate, but there’s no way to know for sure.  

I feel really good.  I play softball and go rollerblading and hiking.  I still eat yogurt for breakfast and never put sugar in my coffee.  I know that the test results are important, but the way I feel matters more to me than the numbers, especially since it was the way I felt that told me I was sick in the first place.

This is the first of many personal stories from patients.  Feel free to share your story in the comments section or contact me at mwoehrle@mpdfoundation.org to tell your own MPD story on this blog.