STUDY QUESTION What is the value of a new strategy for preimplantation genetic diagnosis (PGD) of monogenic diseases: blastocyst biopsy, cryopreservation and thawed embryo transfer? SUMMARY ANSWER This strategy is highly effective for PGD of monogenic diseases and merits wide use. WHAT IS KNOWN ALREADY PGD of monogenic diseases is conventionally performed on 6- to 8-cell embryos with fresh ...

PURPOSE The aim of this study was to explore factors contribute to the success of PGD cycles for monogenic diseases. METHODS During a 3-year period (January 2009 to December 2012), 184 consecutive ICSI-PGD cycles for monogenic diseases reaching the ovum pick-up and fresh embryo-transfer stage performed at the Reproductive Medicine Center of The First Affiliated Hospital Of Sun Yat-sen Univers...

Immunodeficiencies reveal the crucial role of the immune system in defending the body against microbial pathogens. Given advances in genomics and other technologies, this is currently best studied in humans who have inherited monogenic diseases. Such investigations have provided insights into how gene products normally function in the natural environment and have opened the door to new, excitin...

In this paper the costs and benefits associated with DNA diagnosis of subjects who are at risk of having a child with a monogenic disease and who seek genetic counselling because of their reproductive plans are predicted under various assumptions using a mathematical model. Four monogenic diseases have been considered: cystic fibrosis, Duchenne muscular dystrophy, myotonic dystrophy, and fragil...

Monogenic autoinflammatory diseases are a group of hereditary disorders characterized by a clinical and biological inflammatory syndrome in which there is little or no evidence of autoimmunity. The discovery of the first causative gene in 1997 was rapidly followed by the identification of many others from the same group. The mutated proteins can be directly or indirectly involved in the regulat...

The review highlights various methods for deciphering the nucleotide sequence (sequencing) of nucleic acids and their importance implementation three main principles personalized medicine: prevention, predictability personalization. review, along with its own practical examples, considers generations sequencing technologies: 1) cloned or amplified DNA fragments according to Sanger analogues; 2)...