A non-invasive prenatal test to diagnose a risk of sickle cell disease in a baby is possible and may be available in clinics in a near future, if further testing confirms its efficacy, researchers in the U.K. report.
Julia van Campen presented the first results of the non-invasive test in the presentation “Non-invasive prenatal diagnosis of sickle cell disease by next generation sequencing of cell-free DNA” at the recent 2019 European Human Genetics Conference in Gothenburg, Sweden.

Sickle cell disease (SCD) is an autosomal recessive disease, meaning that a child has to inherit two mutated copies of the hemoglobin gene to develop it — one from each parent. If both parents have sickle cell trait, there is a 25 percent chance the child will have SCD. Without early diagnosis and treatment, the life expectancy of children with SCD is only a few years.

Currently, sickle cell can only be diagnosed during pregnancy using an invasive test like amniocentesis that carries a risk, although small, of miscarriage, leading some parents to decline it. An earlier survey showed that if patients had the option of a non-invasive test, more would choose screening for the possibility of SCD.

The California Institute for Regenerative Medicine (CIRM) and the National Heart, Lung and Blood Institute (NHLBI) have entered into a “landmark” collaboration to co-fund and help speed the development of cell and gene therapies to cure sickle cell disease (SCD), according to a press release.

The agreement was created under the National Institutes of Health’s “Cure Sickle Cell” initiative, led by NHLBI, the goal of which is to take advantage of the latest genetic discoveries and technological advances to move the most promising genetic-based therapies into clinical trials within five to 10 years.

This new collaboration will take advantage of CIRM’s vast resources and expertise, which have already resulted in more than 50 clinical trials in stem cell and regenerative medicine, and will provide lines of co-funding to CIRM-sponsored research.

“There is a real need for a new approach to treating SCD and making life easier for people with SCD and their families,” said Adrienne Shapiro, mother of a child with the disease and co-founder of Axis Advocacy.

In partnership with community organizations, Global Blood Therapeutics (GBT) is directing a national campaign to raising awareness and understanding of sickle cell disease, including among health professionals focused largely on pain crises, with the goal improving patient care.

Called Sickle Cell Speaks, the campaign highlights diverse stories told by patients, caregivers, friends, and family to educate others, and to help eradicate disease stigmas.

“The sickle cell experience is highly varied, and highlighting the personal stories of these individuals, as well as their family and friends, will help grow understanding and awareness of this condition,” Beverly Francis-Gibson, president and chief executive officer of the Sickle Cell Disease Association of America, said in a news release. “We are proud to partner with GBT to help break down stigmas and make our voices heard.”

SCD patients can experience stigma bias for a variety of reasons, including race, disease status, socioeconomic status, delayed growth and puberty, and the acute pain that often has to be managed by prescription opioids, a 2018 article in the peer-reviewed journal Issues in Mental Health Nursing reported.

Wide interest in a CBS 60 Minutes story about a Florida woman with sickle cell disease (SCD) whose symptoms were eased through gene therapy has prompted the National Heart, Lung, and Blood Institute (NHLBI) to raise awareness of other work the National Institutes of Health (NIH) is doing in this disease.

In the March TV segment, Jannelle Stephenson shared her experience of recovery after receiving genetic treatment as part of an ongoing NIH Phase 1/2 clinical trial (NCT02140554). That study is evaluating the safety and efficacy of the investigational gene therapy LentiGlobin in severe sickle cell anemia.

Developed by Bluebird bio, the therapy is designed to raise patients’ long-term hemoglobin levels. Hemoglobin is the molecule that transports oxygen in red blood cells. Researchers extracted stem cells which have the ability to develop into many different cell types in the body — from people with severe sickle cell anemia and injected them with LentiGlobin BB305 viral vector that carries the modified human beta-A-T87Q globin gene. The treated cells were then delivered back into the patients where they started to produce the hemoglobin (HbAT87Q).

Tuesday, November 19 - Thursday, November 21, 2019

Hilton Washington DC/Rockville Hotel & Executive Meeting Center
1750 Rockville Pike
Rockville, MD 20852

As part of the National Institutes of Health (NIH) Cure Sickle Cell Initiative, Gary H. Gibbons, MD, Director, National Heart, Lung, and Blood Institute (NHLBI), W. Keith Hoots, MD, Director, Division of Blood Diseases and Resources, NHLBI, and Edward J. Benz, Jr., MD, Executive Director of the NHLBI Cure Sickle Cell Initiative are convening this meeting to advance scientific discoveries in the field of curative therapies for sickle cell disease.

This 2.5 day meeting will engage attendees in innovative solution-discovery sessions to define the priorities and opportunities to pursue to accelerate and enhance our roadmap towards a cure. As a distinguished contributor in this field, your participation in this process will be essential to the success of the Initiative.

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The Sickle Cell Disease Association of Illinois (SCDAI’s) Annual Management of Sickle Cell Disease Conference is designed for nurses, healthcare professionals, providers, educators, social workers, students, individuals with sickle cell disease and their families and the community at large. The purpose of this educational activity is to strengthen participant’s knowledge base about sickle cell disease and sickle cell trait through lecture, discussion and sharing of current and future treatment regimen.

Upon completion of this activity, participants should be able to:

• Identify current evidence based practices to improve the care & quality of life  for individuals with sickle cell disease & sickle cell trait
• Discuss complications related to sickle cell disease
• Explain resources available to individuals with sickle cell

When:

November 15, 2019 from 8:30 AM to 4:00 PM

Where:

Access Centre For Distance & Learning
5139 S, Ashland Avenue
Chicago, Illinois, United States

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Kayla Rushing is the first pediatric patient to receive a bone marrow transplant for Sickle Cell Disease in the City of Buffalo.

The procedure took place through a partnership with Roswell Park and Oishei Children's Hospital.

Dr. Steven Ambrusko is the Director of Sickle Cell and Hemoglobinopathy services program. He says this procedure is the first step toward a larger initiative to ensure children with Sickle Cell Disease in Buffalo get the care they need.

The Annual Scientific Conference on Sickle Cell and Thalassemia is one of the must attend events of the year for consultants and specialist psychologists, nurses, scientists and all relevant experts. The event is an ideal opportunity to see the latest advances in diagnosis, treatment and emerging fields in haemoglobinopathies. It is an opportunity to interact on the latest advances in clinical care, transition services and emerging new therapies including updates for curative treatment options.

Event Date:
January 26, 2022 - January 28, 2022

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The 12th Annual International Conference on Stigma will be held from Monday November 15 to Friday November 19, 2021 as a Hybrid Event. Monday and Friday will be in person at Howard University, as well as live webcast. Tuesday, Wednesday and Thursday will be virtual.

The stigma associated with health conditions such as HIV infection is a major public health problem that impedes treatment and prevention efforts. The International Conference on Stigma will bring together researchers, community, academia, policy makers, faith leaders and youth to discuss the impact of health-related stigma and ongoing research on interventions to eliminate stigma. The conference will include plenary sessions; advocacy leadership training sessions; scientific poster presentations; networking opportunities; and art, with a theme of “Trauma…Recovery…Healing.”

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Since 2017, Global Genes and the EveryLife Foundation have partnered to host Rare on the Road events around the country, developing the next generation of advocacy leaders. This year, due to the coronavirus crisis, we are hosting Rare on the Road virtually!

Part I: Interactive Webinar - Tuesday, June 23rd, 11:00 a.m. ET – 1:30 p.m. ET

Participate in interactive tutorials on how to tell their rare story and how to get involved in advocacy. This event is open to all rare disease community members and will feature special guest speakers, including a rare disease patient and a policy expert.

Part II: Rare Chats - Wednesday, June 24th, 11:00 a.m. ET – 12:00 p.m. ET

Meet local rare disease community members with this unique video chat experience.

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