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Press Release

Ambry Genetics’ Mitochondrial Disease Research May Help Develop Treatments Sooner

Ambry Genetics Corporation
Posted on: 28 Nov 17

Ambry Genetics Corporation (Ambry), a leading clinical genetics-testing lab, recently published a paper concerning mutations in the FDXR gene, detailing how a team of researchers completed an entire diagnostic journey – from novel gene identification to potential treatment development; offering hope of a treatment to patients with vision loss due to mitochondrial disease.

The paper, Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy, was published in the journal Human Molecular Genetics. The paper shows how Ambry’s superior testing techniques and dedicated researchers were able to identify this rare disease and provide an answer to clinicians treating patients suffering from a debilitating hereditary illness.

The research also shows the power of collaboration between labs and how different groups of various backgrounds are needed to make this type of discovery possible. “Because this is such a rare mutation, we needed to reach out to other labs to see if the clinical presentation was similar across all available patients,” explained Ambry researcher Deepali Shinde. “Without their collaboration, we would not have been able to complete the project.”

The FDXR gene mutation, whose clinical association was discovered by Ambry via diagnostic exome sequencing (DES), is primarily associated with optic atrophy, or the loss of eyesight, caused by mitochondrial dysfunction in the cells. The phenotype of the human FDXR mutation was confirmed through studies of mouse models conducted through the Jackson Laboratory.

“We were excited when researchers at Ambry contacted us to collaborate on the FDXR project,” says Jackson Laboratory researcher Dr. Laura Reinholdt. “The FXDR mutation in mice revealed an eye disorder phenotype and other complex mitochondrial deficiencies similar to human patients, thus endorsing Ambry’s initial findings.”

Simultaneously, Ambry researchers contacted Taosheng Huang, MD, Ph.D., the Director of the Program of Mitochondrial Medicine at the Cincinnati Children’s Hospital Medical Center (CCHMC), and connected him to the referring physicians to start this multiple-institute study. The studies focused on understanding the disease mechanism to pave the way for treatment development, the initial results of which have been promising.

“This is a great collaboration between industry and academic researchers where we are collaborating instead of competing with each other,” says Dr. Huang. “A majority of the FDXR patients die in early childhood; understanding the disease mechanisms will help us develop effective treatments.”

The identification, validation, and treatment development that was done on behalf of this group is tangible proof that Ambry’s commitment to understanding all disease pays off for those who may have otherwise suffered their entire lives without answers or treatments.

“Not only were we able to help the affected families, we were also able to demonstrate that this research has an impact beyond those affected,” said Ambry scientist and Laboratory Director for Clinical Genomics, Sha Tang. “These findings can play a role in patients’ healthcare management as well as family planning.”

About Ambry

Since 1999, Ambry’s mission has remained focused on understanding disease so cures can come faster. Today, Ambry remains unwavering in its commitment to remain tough, innovative, committed to quality and, most of all, focused on doing what is right for patient care. For more information on Ambry’s full suite of genetic testing, and research projects, please visit:

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Last updated on: 28/11/2017

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