Recent advances in CRISPR/Cas9 gene-editing tools, which the blog has highlighted in the past, have renewed hope that it might be possible to cure sickle cell disease by correcting DNA typos in just the right set of cells. Now, in a study published in Science Translational Medicine, an NIH-funded research team has taken an encouraging step toward this goal. For the first time, the scientists showed that it’s possible to correct the hemoglobin mutation in blood-forming human stem cells, taken directly from donors, at a frequency that might be sufficient to help patients. Related content

Next-generation gene editing is already transforming the way scientists do research, but it also holds a great deal of promise for the cure of genetic diseases. One of the most tractable genetic diseases for gene editing is sickle cell disease (SCD). The molecular basis has been known since 1949, so it’s relatively well understood. Its root cause is in bone marrow stem cells (aka hematopoietic stem cells, or “HSCs”), which are easy to get to with editing reagents. It’s monogenic and recessive, so you only need to reverse one disease allele for a cure. Related content

Prior to this report, the only curative therapy for sickle-cell disease was allogeneic bone marrow transplant. But few patients have matching donors, and even if a match is found, lifelong immunosuppression is necessary to prevent rejection. Gene therapy is the future. Here’s how it was done. First, the researchers harvested stem cells from the child’s bone marrow. These stem cells were exposed to a lentivirus vector containing an alternate hemoglobin gene. Now, here is where it gets really clever. You’d expect that they just put the normal hemoglobin A gene in there, but they didn’t. Instead, they inserted a variant of hemoglobin A with a glutamine-threonine amino acid substitution. This variant has anti-sickling properties. In fact, the variant was discovered in some kids who were expected to have sickle-cell disease but never manifested symptoms. This is fighting fire with fire. Use a mutated hemoglobin A gene to combat a mutated hemoglobin A gene. Related content

Sickle cell disease poses a serious health threat in tropical Africa and has been declared a public health priority by the World Health Organisation. However, as the English idiom goes: 'every cloud has a silver lining' and carriers of the mutation that causes the disease are provided with resistance to malaria. Eric Elguero and colleagues present evidence of a strong association between malaria prevalence and sickle cell trait in Central Africa. Furthermore, could this selection be evidence of modern-day human evolution? Related content

I was working on Gilberto’s narrative last night. I’m profiling his story in my 3rd chapter with 5 others to help explain how skin color across the Brazilian phenotypic continuum influences one’s relationship with their sickle cell disease and the policy around it. I wanted to make sure I was spelling his last name right and my surveys were elsewhere and I didn’t feel like listening to the audio so I went to Facebook. I typed in his name and confirmed what I thought it was and began to scroll down his page. “Why were people referring to him in past tense?” I thought. I kept scrolling when it hit me. “Wait. Did Gilberto die?!?” I knew the answer. Gilberto died March 21, 2015. So long ago. Related content

Hematologists, sickle cell patients, and families with loved ones living with sickle cell disorders are hoping for a universal cure for sickle cell patients. In 1982, doctors at St Jude Children’s Research Hospital were the first to cure the genetic blood disorder using a bone marrow transplant. In fact, in 2014, I had the privilege of meeting Kimberlin, the first person cured of sickle cell. The experience made me hopeful that one day I’ll also see my daughter receive a cure as well. Related content

Living her life with sickle cell anaemia, Jenica Leah has battled with the many complications that come with the disorder; but she has never let this stop her from achieving. From being a full-time model at the age of 14 to organizing and managing catwalks with an international events specialist by the age of 20, Jenica Leah refuses to let her condition hold her back. In order to create and develop her award winning children’s book series ‘My Friend Jen’, Jenica Leah has done in depth research of the sickle cell condition to further her knowledge of what she already knows from living with it. Her vast understanding as well as her patient expertise has placed her second to none when it comes to discussing the topic of sickle cell education and raising awareness. Related content

The deepening of voice in most male with sickle cell delay. Most male with sickle cell disease have delayed growth which affects their self-esteem."YOU CANNOT SIT ON THE TABLE OF MEN WHEN YOU ARE STILL A CHILD" that's the statement they always hear from their peers. At this time age does not matter it’s the characteristics you have that matter. Delay affects every aspect that concerns the sexual development including: enlargement of the scrotum, and testes, lengthening of the penis, enlargement of seminal vesicles and prostate gland, growth of pubic hair, growth of hair on face and in the underarms. Related content

Living with Sickle Cell disease requires a lot of medication. For instance I normally take Pen V for infection, Folic Acid to build my blood, Palwudrine for malaria and Brufen for the pain. Sometimes when the pain is too much and I can't handle it, I am taken to hospital for more medication. In this case, I am used to the blood transfusions and the drips and most importantly and hard to get used to, the very many injections. What has motivated me to keep going strong during pain is my parents who are always there and understanding that it will always go away. Related content

As I sit waiting for my sister in the surgical waiting room at the Wilmer Eye Institute at John Hopkins medical center in Baltimore, Maryland, I am reminded of the importance of eye care. This is especially important for individuals with sickle cell disease (SCD) because of the potentially serious eye conditions that can occur. If you have SCD you should be seen annually by an ophthalmologist. Be sure that you aren’t only seen by an optician. You must be examined by an ophthalmologist who is skilled to test for and detect serious eye conditions. This is why it’s important to know the differences between ophthalmologists, optometrists and opticians. Related content