World's First Recipient Of Personalized Gene Editing Treatment Lives

                   CPS1 deficiency, a rare genetic disorder affects one in 1.3 million babies. Only half of babies diagnoses with this disorder make it past the first week. If they do survive that long they would have severe mental and developmental delays and eventually need liver transplants. Their bodies are unable to rid themselves of ammonia, a byproduct of protein metabolism which build up in the blood and crosses into the brain. However, KJ’s parents decided to try something new. In New York Time’s article Baby Is Healed With World’s First Personalized Gene-Editing Treatment, Baby KJ was reported to be the first recipient in the world to receive a custom gene editing treatment. KJ’s treatment was customized so CRISPR, a gene editing tool that finds and cuts specific sequences, found just his single point mutation causing this fatal genetic disorder. Every treatment he receives requires a lower and lower dose. Now over 9 ½ months old and thriving, KJ’s trial opens the door to vast possibilities in gene editing field. 

        What does this mean for others? Parents facing a CPS1 deficiency diagnosis for their child now doesn’t necessarily mean an early end and severely impacted quality of life. Cleveland Clinic estimates there could be as many as 7,000 genetic diseases and disorders that can now be reexamined to find a cure. With living proof this technology works it could potentially be applied to infinites cases and varying severities. 

Scientists Spot Gene That Could Help Cause Miscarriages

    In a recent study conducted by Rutgers university, a genetic marker had been identified that is directly correlated to accelerated reproductive aging which in turn increase the risk for miscarriage in women. The marker is located on gene KIF18A. This gene is responsible for the accelerated aging of eggs in young females. This effect their fertility and increase the risk for problematic pregnancies. Many miscarriages are due to the eggs having abnormal number of chromosomes. As women age their egg health and viability decreases. 

In the study conducted, the utilized data collected from a vitro fertilization clinic. They analyzed the data of maternal DNA sequences that could have been linked to poor fertility. In this study they found a certain gene marker which caused a higher number of abnormal eggs. They used mice which they used to carry the genetic marker and used mice that did not have the marker. Mice with the marker produced more abnormal eggs then those without the marker. With this study it supports more correlation the causation in the relationship, however with the new findings they are looking into more genetic variants that lead to abnormal eggs and female infertility issues. 

The hope is to allow for more information about female fertility to be discovered. With this type of genetic testing, it can help inform those who would like to have children about the risks, options, or concerns they might have. 

I think this is a great study. My own mother struggled with fertility issues as well as 2 miscarriages. Luckly she was able to go through IVF and have children but so many women struggle with these issues. I think being able to have genetic testing which allows for more information on whether women might have concerns when it comes to pregnancy could be a big factor in their concerns.

Links:

Scientists Spot Gene That Could Help Cause Miscarriages

Miscarriage: Causes, Symptoms, Risks, Treatment & Prevention

Baby Born With DNA From Three

https://time.com/5569057/three-parent-baby-dna/

https://www.newscientist.com/article/2107219-exclusive-worlds-first-baby-born-with-new-3-parent-technique/

In-vitro fertilization is a very hard concept to master. Many need to find new ways, and sources of conceiving if that is there ultimate goal with failed attempts at different treatments. A thirty two year old mother gave birth in Greece, to a baby using the maternal spindle transfer technique. This technique starts with removing DNA from one mothers egg, and transferring it inside another women's "donor" egg, which was previously emptied as well. The donors egg with the DNA from the first mothers genes was than fertilized and developed to be transferred for pregnancy.  This technique helps mothers who have eggs that prevent viable embryos from forming. The mitochondria can be a factor as well, and maternal spindle transfer allows the donors mitochondria to be transferred and for it to be possible to fertilize and develop into an embryo.  Researcher, Dr. Johnathan Tilly, has found that mitochondria s play a huge role in reproduction. He believes mitochondria help eggs to fertilize and grow into healthy embryos. The first baby to be born, was born from a mother who did not have a mitochondrial defect. Researchers state that this method of conceiving will not be around any time soon but this helps researchers understand what is truly going on inside mitochondria s as well as mothers DNA and genes. The baby has the DNA from the two women who were used for the egg as well as the information inside, as well as the mans sperm who fertilized the egg. 

In my eyes this is pure genius work. These researchers are giving hope to many women out there who have been struggling for a long time. To come from three different DNA strands must be an awesome thing to grow up and understand you were apart of. The only problem I see in the future of these children, is they might be carriers of more diseases due to having now three different strands it might come from. The only way to find out if this method actually works is to see the offspring of the baby who was born which would be in many years to come. We must see the F2 generation to fully understand the affects of having these three DNA strands Will their children have four DNA strands due to them conceiving with someone else???