We recognize Rare Disease Day every year on on February 28, but for Ambry, the work of Rare Disease is a year-round effort. It is an ongoing mission. In addition to my work in Research and Development at Ambry, I continue to see patients part-time because their stories constantly inspire me. While all the families I've worked with through the years have shaped my thinking, there are some stories that really stand out in my mind.  

There is a case report I published in 2022 that describes an 11-year-old boy who was having difficulty walking. While he had seen multiple different specialists, he remained undiagnosed. Even a geneticist had ordered exome sequencing from a national reference laboratory which was reported as negative. However, this "negative" exome hid important clues. Guided by variants that were considered of uncertain significance (VUS) and reported as unrelated to the phenotype, subsequent biochemical phenotyping permitted at diagnosis of GCH1-associated DOPA-Responsive Dystonia.  This turned out to be a highly treatable diagnosis, and the child was walking normally within hours after starting the appropriate medication. 

Another patient story that inspired me was one of the first diagnoses published by the Pediatric Mendelian Genomics Research Center.  Included in a case series we published in 2023, we described a 9-year-old boy who had autism spectrum disorder, but became very ill acutely.  He underwent two different genetic testing panels—the first to look for causes of his acute liver disease and then a second to assess for his medication trigger cardiac arrhythmia, but neither provided a sufficient answer. Genome testing through the Pediatric Mendelian Genomics Research Center identified an intronic variant in SLC6A8, a gene associated with creatine deficiency which could explain his autism and now in retrospect is also possibly related to his cardiac arrhythmia.  Subsequent biochemical phenotyping confirmed the diagnosis, but RNA sequencing was even more interesting.  This variant, while leading to a markedly decreased level of creatine transporter expression, did leave some low levels of typical transporter. As such, while creatine transporter deficiency is in most cases not considered treatable, in this rare situation, response to creatine supplementation was possible. In fact, the response included significant improvement in his aggressive behaviors and performance at school. (Read more.)

Stories like these have taught me both the huge impact a genetic diagnosis can have on patient treatment but also the limitations of clinical genetic testing. I’ve redirected and devoted my career to pushing genetic testing technologies to their limits and ensure we can squeeze the most useful information possible out of every genetic test.   

I first became well acquainted with the Research and Development team at Ambry through its collaboration with the GREGoR consortium, and I immediately knew that Ambry aligned with these precepts. I like to say I am a “recovering academic,” since I transitioned to my current role at Ambry in the summer of 2025, leading the Ambry Translational Genomics (ATG) Laboratory for Rare Diseases. This long-standing program is central to Ambry's dedication to innovative genetic testing approaches to improve diagnostics.  As we grow this program, we are using the lessons learned through Ambry's collaboration with the GREGoR consortium to test, develop, and translate new genetic testing technologies at scale to improve clinical genetic diagnostics.  In this way, we hope to pave the way to give every patient and provider the tools they need for informed health decisions. I look forward to advancing these efforts to ensure that Ambry can offer the most comprehensive testing possible for Rare Disease. There is lots of movement in the genetic diagnostics field these days to incorporate new sequencing technologies into clinical workflows such as Long-Read sequencing and other Omics technologies to enhance Rare Disease diagnostics. 

I look forward to sharing more industry insights and inspiring patient stories!  In the meantime, make sure to meet me at Booth 517 at ACMG to discuss more tales of "Where Genomic Insights Meet Clinical Action." Set up a meeting.