A team of researchers at the Stanford University School of Medicine has used a gene-editing tool known as CRISPR to repair the gene that causes sickle cell disease in human stem cells, which they say is a key step toward developing a gene therapy for the disorder. The team went on to demonstrate that the mended cells could make a functioning hemoglobin molecule, which carries oxygen in normal red blood cells, and then successfully transplanted the stem cells into mice. The researchers say the study represents a proof of concept for the repair of blood-borne genetic diseases, such as sickle cell disease and thalassemia.

Researchers at New York’s Weill Cornell Medicine have discovered an innovative method of producing healthy stem cells that could significantly improve treatment of sickle cell anemia and other blood disorders. A study describing the method, “Conversion of adult endothelium to immunocompetent haematopoietic stem cells,” appeared in the journal Nature.

GlycoMimetics, in collaboration with Pfizer, is now enrolling participants for a Phase 3 clinical trial to test the effectiveness and safety of the drug candidate rivipansel (GMI-1070) for the treatment of vaso-occlusive crisis (VOC) in hospitalized patients with sickle cell disease (SCD). “We can report that the Phase 3 program to evaluate rivipansel for vaso-occlusive sickle cell crisis, according to our partner Pfizer, remains on track for completion in the second half of 2018,” Rachel King, CEO of GlycoMimetics, said in a press release.

Prolong Pharmaceuticals’ investigational drug for treatment of sickle cell disease (SCD)-associated complications, Sanguinate, showed promising results in patients experiencing vaso-occlusive crisis (VOC). According to the research study, “SANGUINATE Returns RBCs To More Normal Morphology In Patients With VOC,” presented at the 2017 Annual Symposium of the Foundation for Sickle Cell Disease Research (FSCDR) in Fort Lauderdale, Florida, this new treatment was able to restore the shape of red blood cells, improving the VOC symptoms in SCD patients.

Every student feels the pressure of assessments, deadlines and attending classes. But most don’t face the daily dilemma that I do living with sickle cell anaemia: do I settle for lower grades because the hard work needed to achieve the highest standards may result in me becoming sick? After hundreds of hospital visits and a double hip replacement before the age of 21, I know as well as anyone that living with sickle cell anaemia is challenging. But if I were given the choice to cure it, I would have to decline.

Surprising findings from a study of health records of thousands of African-American soldiers show that a common genetic condition poses far less risk than previously thought. Health experts have long believed that sickle cell gene variants, which occur in about 1 in 13 African-Americans, increase the risk of premature death, even when people carry only a single copy of the variant. But health records of nearly 50,000 active-duty U.S. Army soldiers between 2011 and 2014 shows that’s not the case, according to a study led by researchers at the Stanford University School of Medicine.

Emmaus Life Sciences Inc. announced today that the Oncologic Drugs Advisory Committee of the U.S. Food and Drug Administration (FDA) voted 10 to 3 that the overall Benefit-Risk profile of EndariTM for the treatment of sickle cell disease (SCD) is favorable. The FDA has set a PDUFA target action date for July 7, 2017. If approved, Endari would be the first FDA-approved treatment for pediatric patients with SCD, and the first new treatment in almost 20 years for adult patients. The therapy is an orally-administered pharmaceutical grade L-glutamine. The FDA is not bound by the Committee's recommendation, but takes its advice into consideration when reviewing New Drug Applications. Endari has received Orphan Drug designation in the U.S., Orphan Medicinal Product designation in the EU and Fast Track designation from the FDA.

Bostonians may be seeing stripes this month, thanks to Cambridge BioMarketing, a pharma and biotech ad agency that specializes in orphan drugs. It has wrapped a subway car on the MBTA's Red Line in zebra stripes to raise awareness of rare diseases. Why zebra stripes? Rare diseases are often likened to animals in the healthcare industry because of the “rule” that if it has hooves it must be a horse. However, as rare-disease patients and caregivers know, sometimes the hooves belong to a zebra. “The car is meant to be visually intriguing and invite people in, and then inside the car there are all sorts of statistics and promotional messages around the idea that rare diseases are actually much more common than you think,” Mike Hodgson, chief creative officer at Cambridge BioMarketing, said in an interview.

The symptoms that kept Ty Montgomery out of the Green Bay Packers' loss at Atlanta on Sunday are related to sickle cell trait -- a condition the receiver said he was diagnosed with previously. However, he said last week was the first time he experienced any issues. Sources told ESPN on Sunday that Montgomery had blood in his urine and the Packers kept him out for precautionary reasons. Montgomery said he and his doctors believe this was related to sickle cell trait, not a hit he sustained during a game, and don't think it's career-threatening. In fact, Montgomery hasn't ruled out playing Sunday against the Colts at Lambeau Field.

African Americans with sickle cell trait - generally thought to be benign, unlike sickle cell disease - may still be at increased risk of kidney disease, a new study suggests. Based on data for more than 2,000 people, researchers found that about 19 percent of those with sickle cell trait had kidney disease, compared to about 14 percent of people without the trait. The study team calculates that sickle-cell trait raises the risk of kidney disease by nearly 60 percent. They reported their results in JAMA and during a presentation at Kidney Week in Philadelphia.