Women’s soccer sophomore midfielder Alexis Williams was playing with her club high school team at a tournament in Colorado when she found she could not keep up her endurance on the field.

“It was the weirdest thing because I’ve never had problems running or anything, but I would have to stop every second,” she said. “I couldn’t run.”

Williams knew she was physically fit, but questions from her coaches asking if she was out of shape frustrated her – especially because being quick on the field was a hallmark of her play.

She forgot about the incident when she returned home to New Jersey, where she was able to return back to her normal ability on the field.

But the moment in Colorado would return to Williams’ mind when she went in for a sickle cell trait test before her freshman year of college – an NCAA requirement for athletes before their first season – and it came back positive.

 

SCD is a group of genetic disorders that cause red blood cells to become misshapen and break down. From an early age, patients with sickle cell disease have a high risk of vascular disease and even stroke. Current models to test drugs used to treat SCD are not reliable and cannot accurately predict how a person’s body will respond to the medication. It is also difficult to predict which patients with the disease have the highest risk of suffering a stroke versus those who have the lowest.

The team is designing an organ-on-a-chip, consisting of a device that will mimic an artery of a pediatric sickle cell disease patient, and the associated biological readouts will provide information on the progression of vaso-occlusion, including during drug treatment.

 

A case series of individuals with sickle cell disease who lived into their ninth decade revealed potential genetic and environmental factors associated with their longevity. The case report — published in Blood — included data from four women with sickle cell disease who have lived longer than age 80 years. Three women are American and received treatment at Thomas Jefferson University’s Sickle Cell Center. The fourth woman resided in Brazil. One patient remained alive and in her 80s at the time of reporting. The remaining three patients are deceased and had lived into their 80s. Although individuals with sickle cell disease are living longer than ever, most patients do not live beyond the age of 60 years, according to Samir K. Ballas, MD, FACP, emeritus professor of medicine and pediatrics at Thomas Jefferson University.

Warrior University is an online, curriculum-based educational platform, powered by the patients and caregivers of the Sickle Cell Consortium. All current classes, presentations and workshops are classified into five warrior university pillars:

• Disease Education (ex. The Expert Patient Series)
• Community-Based Organization/Certified Community Advocate Training & Best Practices
• Medical/Scientific Research & Updates
• Legislation & Policy
• Warrior/Caregiver Life Skills

Warrior University will be hosting a series of classes for ALL partners, patients, caregivers, and everyone interested in the research of sickle cell disease to gain more information about how we may be able to develop cures for those individuals who suffer significantly from this illness.

The upcoming classes will be held every Thursday at 7 p.m. EST.

There's new hope for patients who have blood diseases. Johns Hopkins Kimmel Cancer Center researchers say a new protocol offers the possibility of a cure. One patient who tried the treatment says it didn't just change her life, it saved it.

For most of her life, Simone Day had a very different experience at the hospital than the one she's having now. For Day, sickle cell meant acute pain crises. She'd be in the hospital for weeks. "I was essentially OK with dying at that point," Day said. It's different now, thanks to a bone marrow transplant in 2017.

The new protocol doesn't only mean using what they call "half matched" donors, like Day's mother, but also lowering the dosages of chemotherapy to make it safer on the patient.

 

Consumers may know Pfizer as the company that manufactures Viagra, but the New York-based pharma giant is investing millions in developing potential treatments and gene therapies for rare disorders ranging from sickle cell disease and hemophilia to ALS and Duchenne muscular dystrophy.

Michael Wajnrajch, MD, is senior medical director for Pfizer’s Rare Disease Group and pediatric endocrinologist on the faculty of New York University. Wajnrajch outlined his company’s vision for gene therapies at the 2nd International Congress on Advanced Treatments in Rare Diseases, held March 4-5 in Vienna, Austria.

“Sometimes we’re doing the right thing for the right reasons, and it’s not about the money,” he told some 100 delegates. “Sickle cell disease predominantly affects patients with very limited ability to pay. We’re not going to make much money on this, but we know it’s an unmet medical need in many parts of the world.”

Some treatments for sickle cell disease or cancer can destroy germ cells that later develop into sperm, putting young boys at risk of reduced fertility in adulthood, a study suggests.

These results could lead to a change in treatment guidelines, giving healthcare providers who are treating prepubescent boys the opportunity to account for these risks before therapy begins and take action to possibly restore these patients’ fertility in the future.

The study, “Spermatogonial quantity in human prepubertal testicular tissue collected for fertility preservation prior to potentially sterilizing therapy,” was recently published in the journal Human Reproduction.

Although it had been previously established that boys who undergo chemotherapy or radiotherapy are potentially at risk of reduced fertility in adulthood, this study is the first to describe the impact of these treatments on future sperm quantity.

 

A Republic of Congo delegation of health and higher education representatives recently met with Howard University officials, aiming to ultimately advance research into sickle cell disease (SCD) — a particularly pervasive disorder in Africa.

Led by Congo Minister of Health and Population Jacqueline Lydia Mikolo and Minister of Higher Education Bruno Jean Richard Itoua, the group met with Anthony Wutoh, Howard University’s provost and chief academic officer, and James Taylor, MD, director of the university’s Center for Sickle Cell Disease.

“This visit is another step for a project that has already been initiated for both countries,” Mikolo said in a press release. “We hope that now we are going to take practical steps. For us, it will really make a difference.”

 

The blood-separation device Spectra Optia, which has the ability to remove abnormal red blood cells from sickle cell patients, can efficiently and safely replace these cells with healthy red blood cells from donors, a study reports.

The therapeutic tool also uses less red blood cell units than regular transfusion techniques, i.e., without the removal of abnormal red blood cells (RBCs).

The study, “Automatic depletion with Spectra Optia allows a safe 16% reduction of red blood cell pack consumption in exchanged sickle cell anemia patients,” was published in the journal Transfusion.

Sickle-cell anemia results from an abnormality in the oxygen-carrying protein hemoglobin found in red blood cells. Cells become sticky and rigid, with a sickle or crescent moon shape, and are prone to getting trapped in small vessels, stopping the blood from circulating and causing painful vaso-occlusive crisis.

 

Part 2 of Global Genes’ new Data DIY series will build our common understanding of the rights we have as data owners and our responsibilities as data stewards. Led by experts in data collection collaboration agreements, you’ll learn how to develop a governance plan for your program that includes key elements, such as:

• Defining program objectives
• Identifying stakeholders
• Building your team
• Protecting participants’ privacy
• Providing for informed consent
• Determining how data is accessed
• Ensuring sustainability over time

Wednesday Evening Welcome Reception: Join fellow guests for a casual meet and greet. The evening welcome reception will be July 17th from 5:00 pm to 7:00 pm EST.

The workshop will be held on Thursday, July 18th, followed by office hours on Friday, July 19th, where attendees will be able to schedule one-on-one time with the experts.

When:
July 17-19, 2019

Where:
Washington Marriott Georgetown
1221 22nd Street Northwest
Washington, DC, United States

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