One of the most recent developments in the field of genetics is called genome editing. This group of scientific techniques allows for the addition, removal, or modification of DNA. CRISPR is a method for genome editing that has gained popularity as it is considered to...
Metabolism is the series of chemical reactions that break down food into energy in the body. Inborn errors of metabolism are rare genetic conditions that result in blockages in that pathway, typically due to the lack of or ineffective function of certain enzymes. A...
You need a Social Security number to open a bank account or take out a mortgage. If this short string of personally identifying numbers were to fall in the wrong hands, the consequences could be devastating. A saliva sample provides DNA testing companies with...
Colorectal cancer is fairly common for both men and women in the United States. The lifetime risk for developing colorectal cancer is 1 in 22 for men and just slightly lower for women (1 in 24). There are many factors that can increase the risk of developing...
Performing preimplantation genetic testing (PGT) for a monogenic/single-gene disorder (also referred to more specifically as PGT-M or PGD) is a complicated process that involves in vitro fertilization (IVF), embryo biopsy, and designing a specific genetic test to...
Bleeding disorders like hemophilia affect the body’s ability to create blood clots. The formation of appropriate blood clots is necessary to allow injuries to heal. People with a bleeding disorder may experience a range of symptoms from easy bruising to life...
Jean Hannah Edelstein has Lynch syndrome. She was born with a gene variant, passed down in her family for generations, which significantly raises her risk for colon cancer, ovarian and uterine cancer, and a number of other cancers. Those with Lynch syndrome, also...
Autosomal dominant polycystic kidney disease (ADPKD), one of the most common life-threatening hereditary diseases, is being diagnosed at an earlier age thanks to new technologies and an increased awareness of the disease among health care professionals. Thus,...
Some couples find out that they are carriers of a single gene recessive disorder only after their first pregnancy. Such was the case for Emily and Adam Griffin, who then decided to pursue PGT-M (preimplantation genetic testing for monogenic/single gene disorders) for...
Preimplantation genetic testing (PGT) for single gene disorders relies on identifying the mutation in the at-risk parent prior to testing embryos. Not all fertility clinics have invested in having board certified genetic counselors to assist patients take that first...
