Spinal muscular atrophy (SMA) is a severe, neuromuscular disease that over time leads to the inability to walk, eat, or breathe. SMA is the leading genetic cause of infant death. The condition is inherited in an autosomal recessive manner, meaning those with the...
This is a continuation of a Q&A with Lee Cooper, patient advocate with LQTS and a proud father. Because this is Part 2 of Lee’s story, you may want to go back to read Part 1 first. Leslie: You said that you thought it was difficult initially to get information about...
As a genetic counselor, I have heard hundreds of patient stories. Now and again, there are some that create quite an impact; so much of an impact that it changes the way you provide information to other patients. Lee Cooper is that person who profoundly changed how I...
IVF paired with preimplantation genetic testing and Lynch syndrome testing can help you build a healthy family.
Case study on PGT for ADPKD, also referred to as PGD for ADPKD.
Some couples who are carriers of a monogenic (single gene) recessive disorder choose PGT-M for their second pregnancy. Here is one couple’s story.
What is PGT? It is one of many family planning options. Though growing in prominence, experts say it may often be left out of crucial discussions. But why?
Genetic testing and counseling is becoming more common. Genetic counselors are patient advocates who provide customized medical information about genetics.
Hear from one patient who chose to undergo PGT (formerly known as PGD) for ADPKD to prevent the continuation of this illness in her family line.