Dr. Mona Robbins is an Associate Professor in the Department of Psychiatry and the Licensed Psychologist for the UT Southwestern Comprehensive Adult Sickle Cell Disease Program. Her expertise is based in an undergraduate degree in Psychology from Howard University and a doctoral degree in Clinical/Community Psychology from the University of Illinois at Urbana-Champaign. Her additional post-doctoral fellowship in Pediatric Psychology at Children’s Medical Center of Dallas has aided in her developmental understanding of psychological factors that impact medical condition management. Dr. Robbins developed a program of Psychological Services for adult patients with sickle cell disease from the transition point of young to later adulthood. Health and behavior evaluations and interventions are provided across both outpatient and inpatient settings with a focus on a variety of dynamics that impact functioning and health promotion such as: - Adherence to Medical Regimen - Coping Skill Development - Mental Health Wellness - Pain and Stress Management - Premature Mortality - Quality of Life Enhancement - Sociocultural Influences   Online profile

Maria Grazia Roncarolo, MD is the co-director of the Institute for Stem Cell Biology and Regenerative Medicine, the George D. Smith Professor in Stem Cell and Regenerative Medicine, Professor of Pediatrics and of Medicine (blood and marrow transplantation), chief of the Division of Pediatric Stem Cell Transplantation and Regenerative Medicine, and co-director of the Bass Center for Childhood Cancer and Blood Diseases. Dr. Roncarolo developed new gene-therapy approaches, which she pursued as director of the Telethon Institute for Cell and Gene Therapy at the San Raffaele Scientific Institute in Milan. She was the principal investigator leading the successful gene therapy trial for SCID patients who lack an enzyme critical to DNA synthesis, which is a severe life-threatening disorder. That trial is now considered the gold standard for gene therapy in inherited immune diseases. Under her direction, the San Raffaele Scientific Institute has been seminal in showing the efficacy of gene therapy for otherwise untreatable inherited metabolic diseases and primary immunodeficiencies. Her goal at Stanford is to build the teams and infrastructure to move stem cell and gene therapy to the clinic quickly and to translate basic science discoveries into patient treatments. Online profile

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Amy Mason had toughed it out for hours one day this past July, trying warm soaks and heating pads and deep breathing to soothe pain that felt like her bones were being sawed with a rusty blade. She knew this was a life-threatening emergency of sickle cell disease, in which her misshapen red blood cells were getting stuck in her blood vessels like tree limbs in a storm sewer. But she delayed going to the emergency room; previous visits hadn’t gone well. Just before midnight, Mason, 34, finally had her boyfriend drive her to a Mobile, Ala., hospital. She told the triage nurse that she was having one of the worst sickle cell crises of her life and that she was off the far end of the 1-to-10 pain scale. She was told to wait. Related story

The science behind sickle cell disease (SCD) is cruel. For approximately 100,000 American children and adults (and 10-15 million people around the globe), a mutation in a single gene means a lifetime of unpredictable and excruciating pain—along with exhaustion, serious infections, and collateral damage to the brain, heart, lungs, and other organs. Anemia, strokes, pregnancy problems, kidney disease, and joint pain are common. But the racial inequities that have hindered treatment advances for SCD—the most common inherited blood disorder in the United States—are far crueler. “I was at a conference recently where an older woman stood up and said she’d been in situations where she was effectively told, ‘Sickle cell disease is an African-American problem. It’s up to you guys to solve it,’ ” says physician Ted W. Love ’81, M.D., CEO of Global Blood Therapeutics (GBT) in South San Francisco. “But there’s no reason the greater society as a whole shouldn’t be solving this. And thankfully we’re starting to see it get the attention it deserves these days across the biotech industry and with drug regulators.” Related story

I was born into a family of four (second born) children where my brother, our first born also suffers full-blown sickle cell disease. My two younger siblings do not suffer the condition, one having normal hemoglobin while the other is a carrier but totally asymptomatic for the disease. My family has learnt how to work around my brother and myself especially when we fall sick and require extra attention. While younger, the burden of sickle cell disease on my body seemed to be greater. As I grew, I’ve learnt how to take care of my body and how to listen to it and look out for any impending complications or infections that could lead to a crisis episode. I now suffer less pain and I’m leading a much more productive life. Related story

At 32 years young, Shakir Cannon is not only on the frontline of sickle cell disease research as someone living with SCD, but also as a dedicated advocate. As he puts it, he’s not a patient of health care but rather a partner in health care. In 2015, Cannon co-founded the Minority Coalition for Precision Medicine (MCPM) “to mitigate/eliminate health disparities of minorities by expanding the awareness and use of “Precision Medicine” to increase personal health and reduce individual and government expenses in providing crucial health care.” In February 2016, Cannon was among an elite group of individuals invited to the White House to participate in the White House Precision Medicine Initiative (PMI) Summit to find new, ‘precise’ ways of addressing health care research. Related story

Kyriako Damavoletes has HbS beta thalassemia. This means he received a HbS gene from one parent and a beta thalassemia gene from the other. Both Damavoletes and his younger sister have HbS beta thal. He knew he was different by about age 4 or 5, but it wasn’t until middle school that he truly understood the impact the disease would have on his life. “At about age 12 or 13, I realized this disease would carry a lot of weight in my life. I saw my older siblings driving and getting ready for college. I thought to myself, ‘Am I going to be able to get a license, go to college, have a job? Like everyone else?’ I just wanted to have the chance others had.” All grown up now, with an education and license to drive, Damavoletes works in the field of information technology. Related story

Tim M. Townes (b.1951), Professor and Chairman of Biochemistry and Molecular Genetics, received his BS degree in 1973, an M.S. degree in Zoology in 1975, and a Ph.D. degree in Microbiology in 1980 from the University of Tennessee. After completing his graduate studies, he joined Dr. Jerry Lingrel's group at the University of Cincinnati, where he studied globin gene expression in goats and transgenic mice. He joined the UAB faculty in 1984. His research is supported by grants from NIH. The major interest of his laboratory is the regulation of gene expression during development. They study the human hemoglobin genes as a model system and translate their understanding of basic mechanisms of globin gene regulation into strategies to correct hemoglobinopathies such as beta-thalassemia and sickle cell disease. Dr Townes’ work focuses on the following 4 areas: (1) Globin gene switching during development (2) Locus Control Region regulation of chromatin structure and gene expression (3) Genetic modifiers of sickle cell disease severity and (4) Genetic therapies to correct beta-thalassemia and sickle cell disease. Online profile

Delayed hemolytic transfusion reaction (DHTR) is one of the most feared complications of sickle-cell disease (SCD). We retrospectively analyzed the clinical and biological features, treatments and outcomes of 99 DHTRs occurring in 69 referral center patients over 12 years. The first clinical signs appeared a median of 9.4 [IQR, 3-22] days after the triggering transfusion (TT). The most frequent DHTR-related clinical manifestation was dark urine/hemoglobinuria (94%). Most patients (89%) had a painful vaso-occlusive crisis and 50% developed a secondary acute chest syndrome (ACS). The median [IQR] hemoglobin-concentration nadir was 5.5 [4.5-6.3] g/dL and LDH peak was 1335 [798-2086] IU/L. Overall mortality was 6%. None of the patients had been receiving chronic transfusions. Among these DHTRs, 61% were developed in previously immunized patients, 28% in patients with prior DHTR. Among Abs detected after the TT in 62% of the episodes, half are classically considered potentially harmful. No association could be established between clinical severity and immunohematological profile and/or the type and specificity of Abs detected after the TT. Management consisted of supportive care alone (53%) or with adjunctive measures (47%), including recombinant erythropoietin and sometimes rituximab and/or immunosuppressants. Additional transfusions were either ineffective or worsened hemolysis. In some cases, severe intravascular hemolysis can be likely responsible for the vascular reaction and high rates of ACS, pulmonary hypertension and (multi)organ failure. In conclusion, clinicians and patients must recognize early DHTR signs to avoid additional transfusions. For patients with a history of RBC immunization or DHTR, transfusion indications should be restricted. Am. J. Hematol. 91:989-994, 2016. © 2016 Wiley Periodicals, Inc. Abstract source Full text