Clinical Trials and Research

PGT-M for Mitochondrial DNA Disorders (IRB AAAU8240)  

Mutations in mitochondrial DNA (mt-DNA) are rare maternally inherited conditions.   We use preimplantation genetic testing for mitochondrial DNA disorders (PGT-M) to reduce the risk of mitochondrial DNA disease of the offspring.  The levels of mutated and normal mitochondrial DNA can vary in the eggs and the embryos of a carrier mom. There are less than 100 PGT-M for mt-DNA cases reported worldwide, indicating a need for more information on how PGT-M might be utilized for mt-DNA conditions.  In most cases the mutation load of the embryo was similar to that measured in the newborn.  To our knowledge, we are the only facility in the United States to offer PGT-M specifically for mt-DNA disorders.

If you or your partner is a carrier of mt-DNA disorder, and you are interested in participating in our IRB-approved study, please contact us to determine your eligibility.

Sensitive Assay for Mosaicism (IRB AAAT5634)  

A de novo mutation is when an offspring has a genetic variant that is not present in the parents. These mutations affect approximately 1 in 300 live births. When parents have a child with a de novo mutation, a recurrence risk of 1-2% is given based on public health studies. Some of these mutations and recurrence may be due to parental mosaicism, a condition where individuals have cells with different profiles. Mosaicism can be difficult to detect with standard genetic tests particularly if mutated cells are few. At Columbia University we developed the Sensitive Assay for Mosaicism (SAM), an innovative approach designed to enhance our ability to identify genetic variants.

We use SAM to analyze maternal and paternal saliva samples and paternal sperm samples to search for the specific variant identified in the affected offspring. Through this approach, we can offer more accurate and personalized insights into the likelihood of genetic conditions being passed on to future generations. This personalized risk assessment can help families choose the best reproductive path for their family. 

SAM can also provide risk assessment for fathers who themselves have a genetic condition in a mosaic state. In assessing the mutation load in a man's sperm, the personalized risk assessment can help families again choose the best reproductive option for their family.