Seminars in Hematology: Diamond Blackfan Anemia and Ribosome Biogenesis

Seminars in Hematology
Volume 48, Issue 2 Pages 73 – 144 (April 2011)
Diamond Blackfan Anemia and Ribosome Biogenesisess
Edited by Benjamin Ebert MD, PhD, Jeffrey M. Lipton MD, PhD

Diamond Blackfan Anemia and Ribosome Biogenesis: Introduction
Benjamin Ebert, Jeffrey M. Lipton

Patient Advocacy in Diamond Blackfan Anemia: Facilitating Translational Research and Progress Towards the Cure of a Rare Disease
Marie Clarke Arturi

Modeling Diamond Blackfan Anemia in the Zebrafish
Alison M. Taylor, Leonard I. Zon

Diamond Blackfan Anemia: Ribosomal Proteins Going Rogue
Steven R. Ellis, Pierre-Emmanuel Gleizes

The Role of p53 in Ribosomopathies
Stefano Fumagalli, George Thomas

Animal Models of Diamond Blackfan Anemia
Kelly A. McGowan, Philip J. Mason

Diamond Blackfan Anemia Treatment: Past, Present, and Future
Anupama Narla, Adrianna Vlachos, David G. Nathan

Untangling the Phenotypic Heterogeneity of Diamond Blackfan Anemia
Jason E. Farrar, Niklas Dahl

Non-Diamond Blackfan Anemia Disorders of Ribosome Function: Shwachman Diamond Syndrome and 5q- Syndrome
Nicholas Burwick, Akiko Shimamura, Johnson M. Liu

Patient Advocates: Advancing Research from outside the Lab

Patient Advocates: Advancing Research from outside the Lab

Copyright  2011 Elsevier Inc. All rights reserved.
Cell Stem Cell, Volume 8, Issue 5, 466-467, 6 May 2011


Anna C. Davison Santa Barbara, CA, USA

Scientists aren’t the most likely models to star in a calendar, but Sabrina Cohen, a quadriplegic since a car accident at 14, believes they’re well deserving of the honor. To raise money for her Sabrina Cohen Foundation for Stem Cell Research, she put together a CELLebrity calendar starring scientists in the field.

The work they’re doing gives people like me a lot of hope, and it gives people the will to do something to give back to the cause, Cohen says.

Advocates like Cohen are hard at work raising awareness of the promise of stem cell therapies, combating misconceptions about the field, fundraising to support research, and pushing at both the state and federal levels for the support and freedom for scientists to advance their work. Some make frequent appearances on Capitol Hill, some recruit celebrities to get behind the cause, and others take their message to schools and community groups.

Whatever their strategy, advocates say scientists are crucial partners in education and advocacy.

We need to present a united force to convince and educate society, says Daniel Heumann, who was paralyzed in a car accident shortly before he was due to begin college. Heumann, a motivational speaker whose hobbies include wheelchair tennis and jumping out of planes, helped found Michigan Citizens for Stem Cell Research & Cures and sits on the Board of Directors of the Christopher & Dana Reeve Foundation. To be an effective advocate, Heumann says, you need to be able to educate peoplethey could be regular people or legislatorson the issues you’re passionate about.

We can’t entirely control the negativity that’s going to come with the area, Cohen adds. The best I can do is educate people properly. She’s targeting schoolchildren, hoping that students will take information home to their parents, and that some might grow up to do charity work.

Heumann has made it his mission to stand up for translational research, and he’s particularly enthusiastic about supporting young scientists via the Daniel Heumann Young Scientists Fund of the Christopher & Dana Reeve Foundation.  They are the ones who are going to find the cure, he says. This is the future of science, but I have to fight for the young scientists to make sure they get the funding they need. Heumann regards himself as a venture capitalist, investing in promising researchers and helping them along the way to big grants and groundbreaking advances.

Don Reed, on the other hand, considers himself the advocacy equivalent of a middle linebackerthe position his son, Roman, played until he broke his neck on the football field. I roam back and forth and fight where I’m needed, Don Reed explains. I call people and ask, What’s happening? Tell me how I can help you.

I want every state in the nation to have the freedom to do the research, says Reed, who is now monitoring the fights in Minnesota, Oklahoma, and Florida, among others. We have to attack this on a national level, he adds, with local cooperation, for scientific freedom and funding.

Reed, who believes the private foundation approach is limitedthere’s not enough money there, helped pass California’s Roman Reed Spinal Cord Injury Research Act of 1999, which has provided an average of $1.5 million in public research funding per year. Several other states have laws that add a surcharge to traffic tickets to fund researchand Reed is currently pushing for that method of funding to be adopted by the California legislature.

Marie Arturi is also pursuing a somewhat unusual fundraising strategy in order to support stem cell research through the Daniella Maria Arturi Foundation, which she and her husband established after losing their daughter to the rare blood disorder Diamond Blackfan Anemia (DBA).  Inspired by that work, Arturi has developed what she describes as a social communications platform called  “My hope is that someone will love it and buy it and I’ll be set up for funding.

Arturi’s foundation has already raised several million dollars for DBA research through more conventional approaches, such as hosting benefit events. She is also particularly gratified to have cultivated a growing community of scientists working on the disorder. There are no words to describe what a miracle this little effort has been, says Arturi, who is effusive in her praise and appreciation for the scientists in the DBA family.

“I couldn’t do what I do without them, she says. I want to say, “Thank you, thank you, thank you.

Arturi has also seen the benefits for researchers. Patient advocates can offer bench scientists, in particular, an encouraging reminder of the importance of their worka broader perspective that’s all too easily lost to the inevitable myopia of research.

An important part of this is connecting with what’s on the other side of the lab, Arturi says.  “Once researchers get that exposure, I just see this amazing exponential increase in dedication. It really gets in their hearts.

Researchers, Reed says, can also gain valuable insights from patients about their conditions. He recalls a meeting where scientists working on therapies for spinal cord injury got an education. They thought the number-one concern was walking, but they found out there that it’s bowel and bladder control.  “Some of them changed their focus after that.

He urges scientists to invite a patient advocate to meetings to ” talk about what they’re dealing with day in and day out.

Arturi likes a “light touch” of advocacy at scientific meetings. “We’re not killing them with, You have to cure this disease. We’d love that, but we know it’s not practical.

People with spinal cord injuries and other conditions that could benefit from stem cell therapies are hopeful, Reed adds, but not hopelessly naive. There’s a misconception that they’re ignorant and willing to try anything, but the advocacy community is educated and informed, he says. Give us information, tell us the risks, have us at the table.

Perhaps I won’t get up and walk, Cohen remarks, but maybe I’ll regain the use of my hands.

Heumann, who’s been in a wheelchair for 26 years, says, “Some sort of movement or sensation would be the greatest gift in the whole world.

He wants more scientists to join him on the frontlines of advocacy. “We need to be a united force to educate key decision-makers who really need to understand what we’re trying to accomplish. No one groupnot scientists, not patient advocates, not industry leaderscan do it alone. Scientists, Heumann says, shouldn’t hide in the lab or behind their PowerPoints. “We’re on the front lines fighting for them, fighting for their work, he adds, but many scientists don’t do what they need to do to allow us to understand the science.

By sharing their work with nonscientiststalking to media, to patients, to policymakersresearchers can build support for their efforts and help patients make informed decisions, advocates say. Cohen suggests that scientists should not only pay attention to the work of their peers, but also keep an eye on the miracle cures and breakthrough treatments being peddled by quacks around the world.

They also need to know what threats are coming, what threats could kill their research,Reed says. If the educated don’t take part, the ignorant will be all too glad to make the decisions. There are a few scientists who will stand up and fightscientists helped California’s embryonic stem cell funding initiative succeed in 2004, Reed points outbut not enough.

Anytime I meet a scientist, Reed says, “I try to find out what they’re doing and what help they needand I also ask them what they’re doing for the cause.

The American Society of Hematology Honors Senator Robert Casey and Patient Advocate Marie Arturi with 2011 Public Service Awards

The American Society of Hematology Honors Senator Robert Casey and Patient Advocate Marie Arturi with 2011 Public Service Awards

December 1, 2011

(WASHINGTON) – The American Society of Hematology (ASH) will recognize Senator Robert Casey (D-PA) and Marie Arturi, co-founder and Executive Director of the Daniella Maria Arturi Foundation, with awards for their outstanding support and advocacy for biomedical research and the practice of hematology at the 53rd ASH Annual Meeting in San Diego.

Sen. Casey will receive the 2011 ASH Public Service Award to honor his unparalleled leadership as an elected public official on issues of importance to hematology research and practice. Since his election to the U.S. Senate in 2006, Sen. Casey has served on the Senate Health, Education, Labor, and Pensions (HELP) Committee and has been a strong and vocal supporter of the National Institutes of Health (NIH) and medical research. Earlier this year, Sen. Casey led an effort to increase funding for NIH. Additionally, in February 2011, he joined Sen. Amy Klobuchar (D-MN) to introduce thePreserving Access to Life-Saving Medications Act (S. 296), which seeks to take the first steps toward addressing the nation’s critical shortages of certain hematology-related chemotherapy and other lifesaving drugs. The legislation would require prescription drug manufacturers to provide early notification to the Food and Drug Administration (FDA) of any incident that would likely result in a drug shortage.

Ms. Arturi will receive the 2011 ASH Outstanding Service Award to recognize her individual efforts over more than a decade to raise public awareness and increase research funding for hematologic diseases. She founded the Daniella Maria Arturi Foundation (DMAF) with her husband in 1996, shortly after their daughter Daniella died of Diamond Blackfan anemia, a rare bone marrow failure disorder. Since then, Ms. Arturi has worked to improve the clinical care environment for the disorder, as well as to improve family and physician access to current disease information, raise public awareness, and support and stimulate research initiatives. Ms. Arturi has been a dedicated supporter of congenital bone marrow failures research, evidenced bythe Daniella Maria Arturi Foundation’s International DBA Consensus Conference currently in its 12th year.

“ASH is pleased to recognize these outstanding individuals for their steadfast commitment to advocating for and supporting issues important to the field of hematology,” said ASH President J. Evan Sadler, MD, PhD, of the Washington University School of Medicine in St. Louis. “Their efforts will help improve the quality of care that patients with blood disorders receive today and lead to better treatments and possible cures in the future.”

The 2011 Public Service and Outstanding Service Award will be presented on Sunday, December 11, at 1:30 p.m. PT prior to the Plenary Scientific Session at the San Diego Convention Center.

Reporter inquiries may be directed to Lindsey Love, ASH Communications Assistant, at 202-552-4925 or

The American Society of Hematology is the world’s largest professional society concerned with the causes and treatment of blood disorders. Its mission is to further the understanding, diagnosis, treatment, and prevention of disorders affecting blood, bone marrow, and the immunologic, hemostatic, and vascular systems by promoting research, clinical care, education, training, and advocacy in hematology. The official journal of ASH is Blood, the most cited peer-reviewed publication in the field, which is available weekly in print and online.