Embryo genetics

 To counteract infertility, which affects 15% of couples of reproductive age attempting to conceive, In vitro fertilization (IVF) is increasingly popular. It contributes to nearly 5 % of births in countries, such as Denmark. This technology led to preimplantation genetic testing (PGT),

 where embryos are screened for conditions such as an X-linked disorder. This testing allowed for the identification of the embryos, with the affected alleles, and implant only the embryos that were unaffected (homozygous unaffected or heterozygous unaffected dominant) and avoid all affected embryos (homozygous affected). This allowed for the extension of the concept to PGT for monogenic diseases (PGT-M). This includes Mendelian single-gene defects (autosomal dominant/recessive and X-linked dominant/recessive), severe childhood lethality or early-onset disease, cancer predisposition, and Human Leukocyte Antigen (HLA), typing for histocompatible cord blood stem cell transplantation. This article summarizes the research on PGT, in several different articles, as it pertains to the screening of the genome for more complex genetic diseases. It concludes with the notion that the research on this topic will only continue to evolve and expand in the future.

This article is more of a summary of the findings of many other research articles so specific details and specifics about each research method are minimal. It is very likely that PGT will become more integral, as the technology advances. This article brings together several compelling experimental designs that can be further explained in the article that they originate.

Link to article “Embryo Genetics”:  https://doi.org/10.3390%2Fgenes12010118

other related links:  https://doi.org/10.1371/journal.pmed.1001356

 https://doi.org/10.3390/genes11080871

Genetics and Endometriosis

    Endometriosis is a unique disease in the fact that scientists have not been able to establish the exact cause of it.  Endometriosis can be a cause of infertility, chronic pain, and deterioration of the quality of life.  It is characterized by having active foci of the endometrium or endometrial tissue that occur out of its cavity and in the muscular layer of the uterus.  Endometriosis is benign and estrogen-dependent but due to all of the implications that come with it, it is not an easy disease to deal with.  Around 30-50% of women will experience infertility in several different ways.  Symptoms of endometriosis include increasing premenstrual pain, pelvic pain, pain in the lower spinal area, dysmenorrhea, painful ovulation, pain during intercourse, pain when defecating, pain when urinating, radiating pain to the back, irregular abundant menstruation, blood in the stool, constipation or diarrhea, infertility, and chronic fatigue.  This is a long list of symptoms and it does not stop there, it is seen patients experience other symptoms such as nausea, dizziness, headaches, depression, anxiety, hypoglycemia, rectal bleeding, hematuria during menstruation, and lowered immune system.  For a disease that doctors do not know the root of the cause, it has a wide range of symptoms.  It can show up in every woman differently but all of the symptoms are possible.  It is a frequently occurring disease that still had unexplained answers and markers for diagnosis.  There are several types of endometriosis as well that affect different areas of the body.  

    Over the years geneticists have tried to complete studies to figure out if there could be a genetic cause to this.  It was observed through family studies as well as twin studies that if the disease has occurred in a woman in the family it is much more likely to occur in other members.  Siblings and twins have a co-occurrence that exceeds 80%, showing how likely it is among families.  It has been proven that a genetic factor is responsible for about 50% of the predisposition to the disease.  Looking more into this article you can see how single Polymorphic variants can be associated with some of these traits and how some somatic mutations may play a role in it as well.  Although no definite markers of the disease have been discovered, scientists do have some theories of what the biomarkers of this disease could be.  There is a diagram to show some potential biomarkers. 

https://www.mdpi.com/1422-0067/22/19/10554 

https://www.genome.gov/genetics-glossary/Single-Nucleotide-Polymorphisms#:~:text=Definition&text=A%20single%20nucleotide%20polymorphism%20(abbreviated,drug%20response%20and%20other%20traits. 

https://my.clevelandclinic.org/health/body/23067-somatic--germline-mutations#:~:text=Somatic%20mutations%20are%20a%20change,in%20a%20person's%20family%20history.