View Only- Matchmaker Exchange: Solving Unsolved Cases-Matchmaker Exchange: Solving Unsolved Cases

Video Transcription

Video Summary

The video provides an overview of the ACMG Genomics Case Conference, hosted by Johns Hopkins University and the Greater Baltimore Medical Center. The conference focuses on the exchange and resolution of unsolved cases in genomics. The presenters are Nara Sobreda from Hopkins and Tony Kline from the Greater Baltimore Medical Center. The conference is intended for learning purposes and offers one CME credit. Attendees are encouraged to register for the conference and can submit questions throughout the presentation. <br /><br />Tony presents a case study involving a patient with various physical and developmental abnormalities. The patient had polydactyly, foot deformity, right cryptorchidism, extra nipples, a prominent metopic suture, aortic dilatation, pulmonic stenosis, hydronephrosis, neurogenic bladder, vesiculoureteral reflux, optic nerve atrophy, intellectual disability, hip dysplasia, scoliosis, joint hyperextensibility, hypotonia, hyporeflexia, and seizures. Despite extensive testing and consultations, the patient's condition remained undiagnosed. The case was then presented on GeneMatcher, a database that allows for matching of cases with similar phenotypes and genotypes. The patient was ultimately matched with another patient with similar features, resulting in the discovery of a novel syndrome, which was named Oh-Klein Syndrome. The presentation concludes by highlighting the importance of sharing data and joining collaborative databases like GeneMatcher to facilitate the diagnosis of rare genetic conditions.

Asset Subtitle

Hosted by Johns Hopkins University/ Greater Baltimore Medical Center

Meta Tag

Case Conference 1

webinar 2

Keywords

ACMG Genomics Case Conference

Johns Hopkins University

Greater Baltimore Medical Center

unsolved cases in genomics

Nara Sobreda

Tony Kline

Oh-Klein Syndrome