ACMG 2024

Strong participation from our department

Quinn Eastman
March 19, 2024

ACMG 2024 roundup

The Department of Human Genetics had a strong presence at the ACMG Clinical Genetics meeting, with presentations on topics ranging from diagnostic challenges to newborn screening and rare disease therapies. We had Hong Li, Lily Walson and Dawn Laney as speakers, along with nine posters — see below.

Kaitlin Weisshappel received the Next Generation Fellowship award from the ACMG Foundation. Backstage, Dr Gambello was on the program committee, and we can thank him and Dr Neira for several photos!

Emory DOHG colleagues meeting for dinner

Top abstract recognition: Kaitlin Weisshappel and Juanita Neira, in front of their poster

Rana Aljaberi, Erin Kistenberg in front of Pompe NBS poster

Latin American geneticists dinner organized by Dr Neira

Speakers

Phenotype-Driven Approach in Identifying a Mosaic Variant and a New Disease-Associated Genetic Variant, Part of “Think Rare: Solving the Undiagnosed Cases Beyond Exome or Genome Sequencing” session

This session assembled a panel of five clinical vignettes highlighting challenges posed by negative exome or genome sequencing results. Through these cases, investigators delved into unusual structural variants, copy number variations, mosaicism, imprinting disorders, and non-coding variants.

Hong Li, MD, PhD presented a case of clinically suspected Cornelia de Lange syndrome, but with a negative gene panel and exome sequencing results obtained from a blood specimen. Considering the high frequency of mosaicism for this condition, a buccal specimen was submitted, identifying a novel mosaic pathogenic variant in the SMC1A gene. This variant was only detected in 2-4% of sequencing reads from the blood sample and was thus below the reporting threshold, leading to an initially negative result. Dr Li also presented her glucagon receptor variant story.

Evolving phenotype and no diagnosis: Chorea/dystonia, dysphonia, dysphagia and dysarthria, Part of “Medical Diagnostic Challenges (Adult and Cancer)” session

Lily Walson, MD highlighted an unresolved puzzle, presented by a former X-ray technician with a complex family history. Genetic testing did pick up a variant of uncertain significance in TBK1; other TBK1 variants have been associated with FTD/ALS. More recent symptoms included difficulty swallowing and inability to walk, leading to a transfer to Emory’s ALS clinic. Contributions from Jaime Vengoechea, Matt Walsh and Charlotte Peinhardt.