September 2, 2014
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Sickle Cell News Round-Up

ATLANTA- 100 Years of Progress in Sickle Cell Research and Care Inherited Disease Affects nearly 100,000 Americans

Chicago physician James B. Herrick published the first description of sickle cell disease in Western medical literature over a century ago, researchers have made great progress in the diagnosis and management of the disease. The search continues for improved treatments and cures to help those who have sickle cell disease, thanks in part to research funded by the National Heart, Lung, and Blood Institute (NHLBI) of the National Institutes of Health.

The disease lowers the quality of life for families affected by it. Today's available treatment options help many, but not all patients have access to proper treatment and care. While bone marrow transplants have cured some patients, a scarcity of matched donors prevents this option from being widely available.

The NHLBI has supported sickle cell disease research since 1948, and has invested more than $1 billion in sickle cell research since 1972. In the 1970s, life expectancy for individuals with the disease was about 14 years. Today, many individuals live into their 40s or longer. Research on hydroxyurea, bone marrow transplantation, blood transfusions, and antibiotics has led to treatments that help patients live longer, healthier lives.

The NHLBI currently is exploring ways to improve treatment of the disorder and reduce the risk of serious complications, such as stroke, pulmonary hypertension, respiratory problems, and vulnerability to infections. Researchers are also testing ways to make bone marrow transplants more widely available. Clinical practice guidelines to help providers are expected in 2011.

Sickle Cell Timeline
* A Century of Progress: Milestones in Sickle Cell Disease Research and Care http://www2.marketwire.com/mw/mmframe?prid=688981&attachid=1430628

Photo Gallery
*Sickle Cell vs. Normal Cell Illustration http://www2.marketwire.com/mw/mmframe?prid=688981&attachid=1430362

Sickle Cell Inheritance Diagram http://www2.marketwire.com/mw/mmframe?prid=688981&attachid=1430358

Videos
*Dr. Shurin Webisode http://www.youtube.com/watch?v=Ce7lUlkl9pE&feature=related

*Tiffany McCoy Patient Video http://www.youtube.com/watch?v=_wxqVQRqCM0

Links:
* Diseases and Conditions Index: Sickle Cell Disease: http://www.nhlbi.nih.gov/health/dci/Diseases/Sca/SCA_Treatments.html
* Sickle Cell Disease Information Center
http://www.nhlbi.nih.gov/new/sicklecell.htm

Cleveland Ohio University Hospitals expands services for sickle cell patients adopts fast track for emergency services - http://www.cleveland.com/healthfit/index.ssf/2010/11/uh_expands_services_for_sickle.html

Georgia Tech Nanomedicine Center Gets $16 Million - A nanomedicine center, led by researchers at Georgia Tech, has received a 16 million dollar grant from the National Institutes of Health. The money will go toward research aimed at treating single-gene disorders, like sickle cell disease. http://www.publicbroadcasting.net/wabe/news.newsmain/article/0/1/1725714/Atlanta./Georgia.Tech.Nanomedicine.Center.Gets.$16.Million

The US Department of Health and Human Services will launch HP2020 on Dec. 2, 2010. The Launch will be videocast live. To view, please pre-register at http://healthypeople.gov/2020_reg/register.aspx This is an exciting time for the blood disorders and transfusion medicine communities. Healthy People 2020 includes the new Blood Disorders and Blood Safety Topic Area, and our objectives in hemoglobinopathies, bleeding and clotting disorders, and blood safety.

Sickle cell trait can be surprise killer at http://abclocal.go.com/wtvd/story?section=news/local&id=7790307

Health Special: The Burden of Sickle Cell Disorder http://www.vanguardngr.com/2010/11/health-special-the-burden-of-sickle-cell-disorder/

From 1918 Autopsy, A First Glimpse of Sickle Cell — and a Warning http://www.wired.com/wiredscience/2010/11/from-a-1918-autopsy-a-first-glimpse-of-sickle-cell-%E2%80%94%C2%A0and-a-warning/

The Devilish Details Of The NCAA’s New Genetic Testing Rules http://blogs.forbes.com/sportsmoney/2010/11/14/the-devilish-details-of-the-ncaas-new-genetic-testing-rules/?boxes=businesschannelsections

Research Articles

1.
Effect Of Hydroxyurea On Physical Fitness Indices In Children With Sickle Cell Anemia.

Wali YA, Moheeb H.

Pediatr Hematol Oncol. 2010 Nov 17. [Epub ahead of print]

 


2.
Genomic polymorphisms in sickle cell disease: implications for clinical diversity and treatment.

Fertrin KY, Costa FF.

Expert Rev Hematol. 2010 Aug;3(4):443-458.

 


3.
Allogeneic cellular gene therapy for hemoglobinopathies.

Gaziev J, Lucarelli G.

Hematol Oncol Clin North Am. 2010 Dec;24(6):1145-63. Epub 2010 Sep 29.

 


4.
Iron overload in thalassemia and related conditions: therapeutic goals and assessment of response to chelation therapies.

Porter JB, Shah FT.

Hematol Oncol Clin North Am. 2010 Dec;24(6):1109-30.

 


5.
Sickle cell trait in sports.

Eichner ER.

Curr Sports Med Rep. 2010 Nov-Dec;9(6):347-51.

 


6.
Impact of early transcranial Doppler screening and intensive therapy on cerebral vasculopathy outcome in a newborn sickle cell anemia cohort.

Bernaudin F, Verlhac S, Arnaud C, Kamdem A, Chevret S, Hau I, Coïc L, Leveillé E, Lemarchand E, Lesprit E, Abadie I, Medejel N, Madhi F, Lemerle S, Biscardi S, Bardakdjian J, Galactéros F, Torres M, Kuentz M, Ferry C, Socié G, Reinert P, Delacourt C.

Blood. 2010 Nov 10. [Epub ahead of print]

 


7.
Iron in sickle-cell disease: What have we learned over the years?

Inati A, Khoriaty E, Musallam KM.

Pediatr Blood Cancer. 2010 Nov 8. [Epub ahead of print]

 


8.
Transition from pediatric to adult care in sickle cell disease: Establishing evidence-based practice and directions for research.

Treadwell M, Telfair J, Gibson RW, Johnson S, Osunkwo I.

Am J Hematol. 2010 Sep 17. [Epub ahead of print] No abstract available.

 


9.
Multi-modal intervention for the inpatient management of sickle cell pain significantly decreases the rate of acute chest syndrome.

Reagan MM, Debaun MR, Frei-Jones MJ.

Pediatr Blood Cancer. 2010 Nov 5. [Epub ahead of print]

 


10.
Global distribution of the sickle cell gene and geographical confirmation of the malaria hypothesis.

Piel FB, Patil AP, Howes RE, Nyangiri OA, Gething PW, Williams TN, Weatherall DJ, Hay SI.

Nat Commun. 2010 Nov;1(8):104.

 


11.
Safety and efficacy of high dose intravenous desferrioxamine for reduction of iron overload in sickle cell disease.

Kalpatthi R, Peters B, Kane I, Holloman D, Rackoff E, Disco D, Jackson S, Laver JH, Abboud MR.

Pediatr Blood Cancer. 2010 Dec 15;55(7):1338-42.


Design of embedded chimeric peptide nucleic acids that efficiently enter and accurately reactivate gene expression in vivo.
Chen J, Peterson KR, Iancu-Rubin C, Bieker JJ.
Proc Natl Acad Sci U S A. 2010 Sep 28;107(39):16846-51. Epub 2010 Sep 13.

Patients with hemoglobinopathies express either a defective (sickle cell disease) or virtually no (ß-thalassemia) adult ß-globin protein. As a result of these deficits, an altered hemoglobin molecule is formed and patients are anemic, presenting with symptoms can range from mild to life-threatening. Pharmacological treatments designed to reactivate fetal g-globin protein, which is normally only highly expressed prior to birth, can lead to an effective and successful clinical outcome. The re-expressed g-globin protein forms a functional hemoglobin molecule, thus alleviating the anemia. However, new approaches remain highly desired as such treatments are not equally effective for all patients, and toxicity issues remain.

Peptide nucleic acids (PNA) are DNA mimics that can be designed to hybridize to almost any sequence on DNA. In addition to their high thermal and biological stability, they can be directly linked to proteins or to amino acid sequences. We have taken a systematic approach to develop a novel embedded chimeric peptide nucleic acid (ecPNA) that effectively enters the cell and the nucleus, binds to its target site at the human fetal g-globin promoter, and reactivates this transcript in human blood cells, leading to expression of g-globin protein. This ecPNA molecule may be an effective means to alleviate anemia in patients with hemoglobinopathies.

Meetings

Feb 23-25 , 2011 Hollywood FL* - 5th Annual Sickle Cell Disease Research and Educational Symposium and Annual National Scientific Meeting - Westin Diplomat Resort and Spa, Holly wood FL. Feb 21 - 22 Grant Writing Institute http://floridasickle.org/
 


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