Hemoglobin SC Disease

23andMe will offer its Health + Ancestry Service at no cost for up to 1,000 eligible* participants who are 18 years or older and have African ancestry or ancestry from a region where sickle cell disease is common About one in 13 African Americans have the sickle cell trait. Many are unaware that they are carriers or what it means to be a carrier of the sickle cell trait 23andMe Holding Co. (Nasdaq: ME) (23andMe), a leading human genetics and biopharmaceutical company, and the non-profit Sickle Cell 101, have joined forces to expand awareness of people’s sickle cell carrier status. The collaboration will include DNA testing and access to 23andMe’s Health + Ancestry Service for up to 1,000 eligible participants, and 23andMe will be providing monetary support to Sickle Cell 101 to support this effort. 23andMe’s Health + Ancestry Service includes a Sickle Cell Anemia Carrier Status report**, allowing participants to discover their sickle cell carrier status. Although 23andMe’s report includes extensive information about what it means to be a carrier of a sickle cell gene, this collaboration gives those with additional questions a trusted and reliable community partner like Sickle Cell 101 for answers. For instance, if a person has questions about the differences between having the sickle cell trait — being a carrier of one copy of the HbS variant — versus having sickle cell disease (inheriting two copies of the sickle cell gene), they can discuss this with a team of experts and certified sickle cell educators at Sickle Cell 101. Sickle Cell 101 is a nonprofit organization that connects, educates, and empowers the sickle cell community through targeted digital engagement and data-driven initiatives. As the largest global digital patient organization that specializes in sickle cell disease and sickle cell trait education, the organization strives to advocate for improved funding for research and health equity for the global sickle cell community. “This project builds on what we’re already doing at 23andMe, but also what we’re working on in the future,” said Joyce Tung, PhD, Vice President of Research, 23andMe. “We have both research projects and an ongoing awareness campaign focused on sickle cell. Adding Sickle Cell 101’s resources and expertise will allow us to expand that effort to more people. Beyond that, 23andMe is about empowering people through access to their genetic data so they can make more informed decisions about their health. This is exactly what this program and collaboration offers.” Roughly one in 13 African Americans have the sickle cell trait, meaning they have one copy of the HbS variant. In other words, they are carriers of the sickle cell trait and can pass that variant on to their children. Historically, access to affordable and reliable genotype testing hasn’t been readily available to individuals with African ancestry or ancestry from a region where sickle cell disease is common. All of these have resulted in most individuals being unaware of their sickle cell carrier status and understanding how that can impact their family planning decision making or their health in certain cases. “At Sickle Cell 101, our holistic approach to advocacy includes prioritizing both sickle cell disease and sickle cell trait awareness,” said Dr. Stephen Boateng, Vice President of Partnerships and Scientific Collaborations at Sickle Cell 101. “While our primary focus is deservingly on educating and advocating for improved funding, care, and treatment options for sickle cell disease, this collaboration with 23andMe reinforces our commitment to also addressing a historical healthcare disparity that has deprioritized access to testing and reliable information to the community most impacted by sickle cell.” Other forms of sickle cell disease are also caused by variants in the HBB gene. Instead of having two copies of the HbS variant, like people with sickle cell anemia, people with other sickle cell disease have one copy of the HbS variant and another variant elsewhere in the HBB gene. Examples of other types of sickle cell disease include hemoglobin SC disease and sickle beta thalassemia disease. About 23andMe 23andMe is a genetics-led consumer healthcare and biopharmaceutical company empowering a healthier future. For more information, please visit www.23andMe.com. About Sickle Cell 101 Sickle Cell 101 (SC101) is a Silicon Valley-based non-profit organization that specializes in sickle cell education. Over the years SC101’s global and world-renowned platforms have become reliable sources of information trusted by patients, caregivers, healthcare providers, and other stakeholders. SC101’s educational resources encompass information for sickle cell disease (SCD) and sickle cell trait (SCT). The content above comes from the network. if any infringement, please contact us to modify.

The characterization a new molecular type of high-risk pediatric liver cancer showed that these tumors had better outcomes when patients were treated by transplantation, rather than by chemotherapy and surgery alone. Until recently, nearly all pediatric liver cancers were classified as either hepatoblastoma or hepatocellular carcinoma. However, pediatric pathologists observed that some liver tumors have histological features that do not easily fit neither of these two carcinoma models. These cancers are less likely to respond to chemotherapy and patient outcomes are poor. First author Dr. Pavel Sumazin, associate professor of pediatrics at Baylor College of Medicine and Texas Children's Cancer and Hematology Center, and his colleagues looked to better characterize this high-risk cancer. The researchers examined the molecular profiles of the tumors, including genetic alterations and gene expression pro They found that these profiles do not fit into the hepatoblastoma (HB) or hepatocellular carcinoma (HCC) molecular categories. Instead, these tumors exhibited recurring molecular features that have been observed in both HBs and HCCs. They designated these tumors as hepatoblastomas with hepatocellular carcinoma features (HBCs). The team also examined HBC treatments and outcomes and found that they tended to be more resistant to standard chemotherapy and have poor outcomes when not treated with more aggressive surgical approaches, including transplantation. Based on their findings, the team proposed a diagnostic algorithm to stratify HBCs and guide specialized treatment. "Our findings highlight the importance of molecular testing to accurately classify these tumors to optimize treatment recommendations at the time of initial diagnosis," said Dr. Dolores López-Terrada, corresponding author of the paper, professor of pathology, immunology and pediatrics at Baylor and chief of the division of genomic medicine at Texas Children's. "Our analysis suggested that children with HBCs may benefit from treatment strategies that differ from the guidelines for patients with hepatoblastoma and hepatocellular carcinoma." Find all the details of this study in the Journal of Hepatology. Sumazin and López-Terrada both are members of the Dan L Duncan Comprehensive Cancer Center at Baylor. Other authors from Baylor and Texas Children's include Tricia L. Peters, Stephen F. Sarabia, Hyunjae R. Kim, Martin Urbicain, Emporia Faith Hollingsworth, Karla R. Alvarez, Cintia R. Perez, Mohammad Javad Najaf Panah, Jessica L. Epps, Kathy Scorsone, Barry Zorman, Sarah E. Woodfield, John A. Goss, Sanjeev A. Vasudevan, Andras Heczey, Angshumoy Roy, Kevin E. Fisher, Kalyani R. Patel and Milton J. Finegold. Howard Katzenstein, Allison F. O'Neill, Rebecka Meyers, Greg Tiao, Jim Geller, Sarangarajan Ranganathan, Arun A. Rangaswami, all members of the Children's Oncology Group Liver Tumor Committee, as well as Rita Alaggio and Alice Pozza also contributed. They are from the following institutions: Wolfson Children's Hospital, Dana-Farber Cancer Institute, Boston Children's Hospital, Harvard Medical School, Primary Children's Hospital, Cincinnati Children's Hospital Medical Center, University of California San Francisco and Bambino Gesù Children's Hospital. This work was funded by the Cancer Prevention and Research Institute of Texas (RP180674), the European Union's Horizon 2020 (826121), the Schindler Foundation and the National Cancer Institute (R21CA223140).