Life Cycle of Orphan Drug Development and Commercialization Conference

•October 31, 2012 • Leave a Comment

FOR IMMEDIATE RELEASE: (Click here for .pdf of Press Release)

For further information, please contact:

Robin Yegelwel
Marketing & PR Coordinator
marcus evans
455 N. Cityfront Plaza Dr., 9th Floor
Chicago, IL 60611
(312) 540-3000 ext. 6483

Alnylam Pharmaceuticals, BioMarin Pharmaceutical Inc., and Cytonet Set to Speak on Conducting Effective Orphan Drug Research

Barbara Wuebbels, R.N., M.S., Oved Amitay, and Rod Monroy, Ph.D. set to speak at the Premier marcus evans Life Cycle of Orphan Drug Development & Commercialization Conference

Boston, MA – September 19, 2012 – marcus evans, a world leading provider of strategic conferences is pleased to introduce the Life Cycle of Orphan Drug Development & Commercialization Conference, January 16-18, 2013 in Boston, Mass.

The orphan drug and rare disease industry is one of the hottest topics in modern day medicine. “A unique set of patients with rare diseases and severe unmet medical needs exists; it is essential to have people and companies dedicated to develop therapeutic agents to improve the quality of life for these patients,” said Rod Monroy, Ph.D., Senior Director, North American Clinical Operations at Cytonet. With blockbuster drugs coming off patent, there is a great need for pharmaceutical companies to diversify their portfolios by exploring niche markets. The increasing presence of high-profile manufacturers in the orphan drug industry provides these companies with this opportunity.

Orphan drug development has several advantages including faster clinical trials, better odds for approval with an 82% success rate, attractive profitability, given the smaller patient populations, and ongoing revenue growth.

While the orphan drug market offers an attractive future for the pharmaceutical industry, it is not without challenges, which include clinical trial end points and lack of biomarkers and difficulty identifying patients. “Finding key opinion leaders and funding the clinical trial are two of the major challenges in orphan drug development,” said Barbara Wuebbels, Associate Director, Patient Advocacy & Investigator Relations at BioMarin Pharmaceutical Inc.

Growing regulatory issues and demands, a changing reimbursement environment, and outdated distribution models add uncertainty and increase the financial risks. “As we continue to drive scientific innovation to the benefit of patients we need to work with other stakeholders on evolving the commercial paradigms to ensure sustainable long-term success,” said Oved Amitay, Vice President and Head of Commercial at Alnylam Pharmaceuticals.

The Life Cycle of Orphan Drug Development & Commercialization Conference will focus on the current landscape of rare disease and orphan drug development, different forms of structural based drug designs, and specifically designed clinical trials. Through these clinical trials, and by having connected to the right patients to participate, will increase productivity and expedite orphan drug approval and commercialization of the final product.

For more information regarding this conference and to register, please visit http://www.marcusevansch.com/LCOD2012_PR or contact Robin Yegelwel, Marketing & PR Coordinator, at (312) 540-3000 ext. 6483 or RobinY@marcusevansch.com.

About marcus evans

marcus evans conferences annually produce over 2,000 high quality events designed to provide key strategic business information, best practice and networking opportunities for senior industry decision-makers. Our global reach is utilized to attract over 30,000 speakers annually; ensuring niche focused subject matter presented directly by practitioners and a diversity of information to assist our clients in adopting best practice in all business disciplines.

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Hope for Harlow

•March 29, 2012 • Leave a Comment

MarbleRoad recently learned of a family who desperately needs your help ::

Their 6-month old daughter is in need of a liver transplant. Her parents are doing everything they can to make ends meet, but without benefits, times are tough. If you want to add some good karma to the world, this is an easy way to help a very deserving family!

Currently, Harlow is at The Children’s Hospital of Philadelphia, and she is bleeding from her stomach (and possibly also her brain). This young child’s liver is failing and she needs a transplant. The hospital is looking for an O+ blood type with petite build for a possible donor match. They are also looking for folks who might be able to donate blood. For anybody with questions, or who things they may be able to help, please contact the Living Donor Coordinator, Linda Wood, at (215) 615-0564. You might also want to consider a donation to help support the family; donate here –  http://hopeforharlow.chipin.com/h0pe-for-harlow.

Harlow was diagnosed with Alpha-1-Antitrypsin Deficiency :: 

Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic condition that is passed on by parents to their children through their genes, and can cause serious liver disease in children and liver and/or lung disease in adults. Alpha-1 occurs when there is a severe lack of a protein in the blood called alpha-1 antitrypsin (AAT) that is mainly produced by the liver. The main function of AAT is to protect the lungs from inlammation caused by infection and inhaled irritants such as tobacco smoke. The low level of AAT in the blood occurs because the AAT is abnormal and cannot be released from the liver at the normal rate. This leads to a build up of abnormal AAT in the liver that can cause liver disease.

You might recall, we referred to the average cost of treatment for alpha-1 in our post “Anti-ACA Litigation, Extenders Act and Rare Disease Day 2011” — $150,000 per year!

From the Johns Hopkins Childrens Center ::

There is no cure for A1AT deficiency. Therapy involves controlling symptoms and attempting to prevent the development of complications. It is very important for the affected person and those around him/her never to smoke in order to protect their lungs. Vaccinations to protect against viruses that can further damage the liver, such as Hepatitis A and Hepatitis B, should be given. It is difficult to predict how severely a liver will be affected. Liver function tests are followed over time. Some patients may have minimal liver disease during their entire lifetime; however a small number will eventually require a liver transplant.

For more information about the disorder visit the Genetic and Rare Diseases Information Center (GARD) on the website for the NIH Office of Rare Diseases Research; or contact the following organizations:

Alpha-1 Advocacy Alliance
PO Box 202
Wolftown, VA 22748
Phone #: 540-948-6777
800 #: 866-367-2122
e-mail: webmaster@alpha1advocacy.org
Home page: http://www.alpha1advocacy.org

Alpha-1 Association
2937 SW 27 Avenue, Suite 106
Alpha-1 Genetic Counselor: 1-800-785-3177
Miami, FL 33133
Phone #: 305-648-0088
800 #: 800-521-3025
e-mail: info@alpha1.org
Home page: http://www.alpha1.org

Alpha-1 Foundation
2937 SW 27th Avenue, Suite 302
Miami, FL 33133 USA
Phone #: 305-567-9888
800 #: 877-228-7321
e-mail: info@alphaone.org
Home page: http://www.alphaone.org

Alpha-1 Research Registry
c/o Medical University of South Carolina
96 Jonathan Lucas St., Suite 812-CSB, MSC 630
Charleston, SC 29425-6300 USA
Phone #: 843-792-0260
800 #: 877-886-2383
e-mail: alphaone@musc.edu
Home page: http://www.alphaoneregistry.org

•February 27, 2012 • Leave a Comment

Originally posted on Listen Local First:

Howard Liebers (MarbleRoad Founder), Jonny Grave (Bluesman), Patrick Hawkins (of Benny), and Linsay Deming (Singer/Songwriter)

Performing for a cause is different than the average concert; there’s a certain appeal philanthropy brings to a musical experience. Musicians can’t be stereotyped as self-promotional or egoistical; instead, they’re lending their voices as a catalyst for change, creating new pools of potential fans and interested attendees. The LEAP Sessions event this Wednesday, Feb. 29th, presented in partnership with Listen Local First (LLF), sheds light on the relationship between philanthropy and music. No, it doesn’t have the publicity of Bono and the ONE Campaign, but it’s a microcosm for the power of 21st century art and advocacy.

Howard Liebers, founder of MarbleRoad, followed the typical path of many DC transplants: college, then an entry level position at a non-profit, and ultimately a director level position working in health policy with the DC Primary Care Association. As a young professional in DC, Howard was a driven 9-5er…

View original 655 more words

Press Release // LEAP Sessions on Rare Disease Day

•February 22, 2012 • Leave a Comment

Washington, DC – Rare Disease Day was established in Europe in 2008 by EURORDIS, and is now celebrated around the world on the last day of February each year. The purpose is to raise awareness of rare diseases as a public health issue.

Some 5,000 to 7,000 rare diseases, including rare cancers and genetic disorders, affect nearly 30 million people across the United States – and as many as 350 million people worldwide.

On Rare Disease Day US 2012, Wednesday, February 29, MarbleRoad will be holding a benefit concert, LEAP Sessions, to raise funds to support its mission: connect people who have complex illnesses with the resources they need to help them improve their lives. MarbleRoad has been working with the campaign IndieMatch, a group which engages independent artists and musicians in philanthropic opportunities. Grab your tickets now! Visit leapsessions.eventbrite.com.

Joseph LaMountain, a member of the MarbleRoad Board of Directors, President of SparkLight Communications, and adjunct professor at Georgetown University said “Individual rare diseases may not be common, but together they comprise a large number of diseases that affect a significant size of the population – 1 in 10 Americans is affected by some type of a rare disease. Families affected by most rare diseases face similar challenges: getting a diagnosis, access to treatment and so on. That is why coming together on Rare Disease Day to raise awareness is so incredibly important.”

DC local blues sensation Jonny Grave and the Tombstones will be headlining LEAP Sessions, along with other local performers Benny, and Linsay Deming (of SweetBread Jim’s). Also performing will be Nelly Kate, from Richmond, VA, who recently held a successful KickStarter campaign to release her album “Ish Ish”; an album which commemorates the memory of people who have suffered and struggled in genocides around the world. Two Brooklyn-based bands, SoftSpot and Caged Animals, will also be performing at LEAP Sessions, as they work their way down towards SXSW, the annual music, film, and interactive conference and festival held each year in Austin, TX. Caged Animals has recently been featured as “New Band of the Day” on The Guardian and with a Stereogum Premiere.

Check out more videos from LEAP Sessions performers recorded 2/18/12.

Brandon Wetherbee, the producer and host of the talk show You, Me, Them, Everybody will host the event at The Dunes, a mixed media venue located in the center of Columbia Heights. The Dunes is operated by The Dunes Fund LLC, a DC-based creative marketing collective. The Dunes Fund LLC reinvigorates the brands of for-profit and non-profit organizations in collaboration with creative talent from all media.

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MarbleRoad is a non-profit, 501(c)(3) public charity incorporated in Washington, DC to support families affected by complex illness. A complex illness can be persistent and substantially disabling or life threatening, and requires treatments and services across a variety of domains of care to ensure the best possible outcomes for each unique patient. MarbleRoad focuses on rare or undiagnosed diseases and the needs of community health center patients who seek specialty care services not offered by their primary care providers. www.marbleroad.org

CAPS / Rare Disease Day 2012

•February 17, 2012 • Leave a Comment

A guest blog post provided by Novartis Pharmaceuticals Corporation

One in 10 Americans is currently affected by a rare disease. For these people, getting properly diagnosed and treated can be a challenge.

Studies have shown it often takes five years or longer to receive an accurate diagnosis of a rare disease, according to the National Organization for Rare Disorders (NORD). And once diagnosed, many patients and families don’t know where to turn for treatment or support.

“Nearly 30 million Americans are living with the challenges of a rare disease, but they are underserved and often ignored by the medical system,” said Peter Saltonstall, President and CEO of NORD. “Despite the challenges, many people with rare diseases display tremendous courage and strength, living their daily lives with disabling and mysterious symptoms.”

To draw attention to rare diseases as an important public health issue, NORD sponsors Rare Disease Day, which is held on the last day of February every year. Details can be found at RareDiseaseDay.us.

In the US, any disease affecting fewer than 200,000 Americans is considered rare. According to the National Institutes of Health, there are nearly 7,000 rare diseases, and about 75 percent of them affect children.

Dave Crawford of Dallas knows firsthand the challenges of suffering from a rare disease. For more than 50 years, Crawford suffered from daily mysterious symptoms including red, bumpy skin rashes, fevers, conjunctivitis, headaches, joint swelling and muscle aches. The symptoms often occurred after exposure to cold or damp air, but also flared spontaneously. Crawford’s mother, grandmother and great-grandmother had also lived with the same painful symptoms, but never received a diagnosis.

It wasn’t until 2010 that Crawford was finally diagnosed with Cryopyrin-Associated Periodic Syndromes (CAPS) – a group of rare genetic diseases that affect an estimated 300 people in the US.

“After suffering from daily symptoms for decades, it was a tremendous relief to get a conclusive diagnosis,”

said Crawford. “My doctor and I have developed a treatment plan that keeps the inflammation and other symptoms well under control.”

“CAPS is a serious and lifelong inflammatory disease that is treatable, but often misdiagnosed or undiagnosed because few physicians are familiar with it, and its symptoms may resemble other illnesses,”

said Dr. Hal Hoffman, Professor of Pediatrics and Medicine at the University of California, a specialist in rare inherited inflammatory disorders whose lab identified the gene responsible for CAPS.

Though rare diseases are often overlooked, it’s important to learn your family’s health history as many are passed down through generations.

To learn more about CAPS and take a disease questionnaire, visit www.CAPSFamilyConnections.com/rare. If you or someone you love have already been diagnosed with CAPS, share your experience with others at www.CAPSConnectUSA.com/rare. Both websites are provided by Novartis Pharmaceuticals Corporation.

**Also check out www.nomidalliance.org, dedicated to increasing awareness care and treatment for patients with all forms of CAPS, and other autoinflammatory diseases.

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Rare Disease Activities at Sanford Research

•February 16, 2012 • Leave a Comment

by Liz Donohue

Coordination of Rare Diseases at Sanford (CoRDS)
Sanford Children’s Health Research Center

Last week I went back to high school.

My friend and co-worker, Paola Vermeer, a scientist studying head and neck cancer at Sanford Research, was presenting to junior high and high school students during their school assembly. But this was not just any presentation.

Paola, or Pay was talking about a rare disease, called Multiple System Atrophy.

Pay’s mother recently passed away from Multiple System Atrophy, a progressive, neurodegenerative disease commonly referred to as MSA that she had been battling for 9 years. This was a very painful experience for their family as Pay’s mother was healthy at age sixty. Her health went into significant decline in the last 2 years. Pay created a YouTube video that outlined this decline and the challenges they faced so she could share the experience with others who may be struggling to support a loved one with MSA.

Pay is brilliant. With a PhD in developmental neurobiology, she is an expert in her area of research. But what was absolutely amazing is how she intrigued and mobilized over 400 junior high and high school kids at 8:00 am last Thursday morning by talking about a complex neurological disease that affects only 50,000 people in the country.

Pay would say it was the candy or treats she handed to students that incentivized students to come down from their perches in the bleachers to participate in an activity but I have to disagree. It was a series of well thought out events that made it a successful learning experience for these students.

Pay started by asking students to come down and form a circle if they knew anyone with Breast Cancer. She moved down the list from more prevalent diseases like Diabetes, Colon Cancer, Parkinsons Disease to rare diseases Duchenne Muscular Dystrophy and Cockayne Syndrome. She explained how unrelated diseases such as cancer and Parkinsons Disease actually have more in common than we think and by studying one, we learn about the other.

Next was the amazing video created by Jeans for Genes, of a darling 6 year old girl named Ellie who explains Cockayne Syndrome, a rare genetic disease affecting her younger brother, Tom. In a cute British accent, Ellie explains that Cockayne Syndrome is an autosomal recessive genetic disorder that Tom has, which makes his life harder. If you haven’t seen it already, it is truly a must-see.

Then came Tim’s Shoe, a globe-trotting Nike Sneaker made famous by a group of teenage kids who played a prank on their friend Tim. Like Paola’s presentation, there is more to Tim’s shoe than what meets the eye. Tim’s shoe raises awareness for MSA everywhere it goes as it is covered with personal mementos from everyone who sees it.  Anywhere Tim’s shoe goes, it is photographed and posted to the Tim’s Shoe Facebook page. Since arriving in Sioux Falls it has not been further than 50 ft from Pay since she requested it be sent from her friend Rita in Belgium. Pay has taken Tim’s Shoe to schools, research centers, support groups, and medical centers. The goal is to raise awareness that MSA may be under-diagnosed or mis-diagnosed, that there are no treatments, and that although the disease may be rare, that doesn’t make it any less important than a disease that is common – three elements that are shared by people with rare diseases/three comments that I hear so often when contacted by patients and families of rare diseases about the CoRDS Registry.

Pay’s message to the students was simple and clear:  It is not RARE when you are affected by a rare disease. Once you are affected by a rare disease, it is no longer rare to you.  Rare is only a matter of perspective. What Tim’s friends have done with his shoe for MSA is an example to all of us.  You don’t need to do something expensive or flashy to be extraordinary and impact people the world over. It is a message to set aside complacency and become active in and around your community. Ignore that voice inside that says “what can I do?  I’m only one person?” because Tim’s friends prove that you can impact people, you don’t need the support of an institution, organization or foundation. YOU as an individual can make a difference, no matter your age or the resources you have.

Tim’s shoe was not fancy, expensive, or time-intensive but has been incredibly effective at reaching many people thanks to our digital age of camera phones and social media.  Currently Tim’s Shoe has 2000 Facebook followers, numerous YouTube videos, and thousands of images and has reached thousands of people. It is awareness campaigns like Tim’s shoe that open up communication lines to talk about rare diseases, empower patients to share their story, mobilize individuals to raise money to fund much-needed biomedical research that will help us understand the etiology of these rare diseases so we can develop better treatments and ultimately cures for these devastating conditions.

Last Thursday afternoon, we heard from the principal of the school.  Apparently several fruitful discussions took place in the classroom and not surprisingly it was not only about the delicious candy. Rather, it was discussion about rare diseases: teachers and students sharing stories about knowing someone affected by a rare disease and even students expressing interested in future careers in biomedical research.

Pay is just one person and limited time. Tim’s friends did not have many resources, either. However, they all saw how devastating MSA is to an individual and their families and wanted to increase awareness of this devastating condition to help those who are affected by MSA. They used a simple idea, took action and changed the world…. and so can you.  With Rare Disease Day coming up, there are many things you can do to raise awareness for any or all of the 7000 rare diseases that affect  nearly 1 in 10 Americans that are affected by a rare disease. 

My list of TOP 5 easy ways to raise awareness for Rare Diseases:

  1. Watch the video narrated by Ellie provided by Jeans for Genes  in your / your child’s classroom
  2. Take a photo of your denim jeans and post to Global Genes Project  on Facebook / Learn more about Global Genes Project here.
  3. Use classroom lessons or activities on genetics developed by our friends at SanfordPROMISE, Sanford CoRDS, and the Office of Rare Disease Research — NIH Curriculum Supplement Series.
  4. Visit NORD and print off a Handprints Across America sign. Take pictures wherever you go and post them to your Facebook wall. We started doing this at Sanford Research and posted to Sanford CoRDS Facebook page it has been a huge hit!
  5. Join the conversation on Twitter. Learn more about rare diseases and organizations and efforts dedicated to rare diseases. Tweet, Tweet and Retweet! To get you started, here are a few to follow: Sanford CoRDS (@SanfordCoRDS), Office of Rare Disease Research (@ORDR), RARE Project (@RAREProject), RareDiseaseDay (@RareDiseaseDay), Inspire (@TeamInspire), MarbleRoad (@MarbleRoad). Don’t forget your hashtags: #raredisease, #1mil4Rare, #RDD2012.

A list of Rare Disease activities at Sanford Research this month

February 6 – Executive Proclamation of 2/29/2012 as Rare Disease Day City Hall in Sioux Falls, South Dakota.

February 11 – Radio Show on KSOO’s A Better You

February  13 – Radio Show on KSOO’s Viewpoint University

February 252nd Annual Sanford Rare Disease Symposium & Life Science Discovery Program (LSDP) at the Sanford PROMISE lab

February 29 – Global and National Rare Disease Day. Join @SanfordCoRDS for a Tweet Chat at Noon CST.

We want to hear your ideas for Rare Disease Day!

Post your ideas on our Facebook Wall (Sanford CoRDS) or Tweet to @SanfordCoRDS. Feel free to contact Liz Donohue directly at Email cords@sanfordhealth.org or visit their website at www.sanfordresearch.org/cords.

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Blog Hop 2012 / Rare Disease Day Efforts

•January 30, 2012 • 2 Comments

LEAP Sessions!
Come out and join us for a benefit concert in Washington, DC on February 29, 2012 to benefit the work of MarbleRoad, a 501c3 non-profit: connecting people who have complex illnesses with the resources they need to help them improve their lives.

***Tickets and information available at EventBrite
-$15 in advance
-$20 at the door
-$35 for extra-generous patrons

***Facebook Event Page

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Help us Raise $25,000!

IndieGoGo is an easy online platform for MarbleRoad to raise money and offer PRIZES! Please visit our page now and pledge any amount from $5 to $1,000 to help us reach our goal by Rare Disease Day — and you can pick up some great perks along the way, such as t-shirts, FAME on our website, and artwork from some amazing artists! 
Please also share the link on Facebook, and post the following on Twitter:
Help make it happen for The MarbleRoad Ripple Effect on #indiegogo http://bit.ly/IndieGoGoMR #RareDisease #FQHC #Charity #DT @MarbleRoad
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Rare Children’s Storybook Project Update!

The Rare Children’s Storybook Project, funded by a generous grant from Genzyme, a Sanofi company, received twelve storybooks from families affected by rare disease. Storybooks came in from twelve States across the country, and were inspired by such illnesses as Pompe disease, Histiocytosis, Tay-Sachs, Leber’s Congenital Amaurosis, and a number of others. Read them now in the Storybook Gallery by visiting
All families who submitted a storybook have been sent a Sony Bloggie camera to create a YouTube video between now and Rare Disease Day 2012. Their videos will allow them to further share their experiences with illness and help bring awareness to the more than 22.5 million children across the country with rare diseases.
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Donate a Tweet to MarbleRoad!
We would like for you to donate a Tweet a day to our account @MarbleRoad. It’s a FREE, IMPORTANT, and EFFECTIVE way for you to show your support for MarbleRoad in the new year! We are hoping to have 300 people signed up, which could have a potential reach upwards of 300,000 Twitter followers – to tweet on behalf of 30 million Americans with rare diseases. So far 32 people have donated a Tweet, giving us a total reach of nearly 20,000 people!
Why it’s important:
  • Once a day (usually less) when we right a compelling tweet about our featured cause, it will tweet out from all of our accounts at once and reach our entire base.
  • This multiplying effect doesn’t happen any other way because all of us are never online and tweeting at the same time. This makes it automatic.
  • We each have a very different set of friends and family on Twitter and this casts a wide net.

Some rules:

  • We never have access to your password or private information.
  • We will only write one professional tweet per day (or less).
  • We will never write anything religious, political, or controversial from our @MarbleRoad account.

Let’s do this! Click http://justcoz.org/marbleroad to donate aTweet per day to feature a great cause that we will be helping together!

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