The needs of adult IEM patients are distinct. Training in IEM is still heavily pediatrics focused=not ideal. Specialized teams (incl nurse, social work, RDs) need $$ to grow. Advocacy ++needed for resources to support growing adult pop for safe care./END pubmed.ncbi.nlm.nih.gov/31497483/

Dr Teodoro Jerves discusses cardiac ❤️ comorbidities in propionic acidemia. Cardiomyopathy and prolonged QT significant contributions. *No* CM genetic variations found on sequencing. “PA can break your heart”- test for PA in CM! #SIMD2022

Sharing our work about Cardiac complications in Adults with Propionic Acidemia during #SIMD2022! SIMD @GenomicsMatters

The new generation of Biochemical Geneticists 🧬#SIMD2022 SIMD

Great presentation about telemedicine in Genetics by andrea cohen APHMG #APHMG2022

Another year, another fellowship #2022NHGRIgraduation. Medical Biochem Genetics done. Clinical Biochem Genetics here we go 🤓🧬

What a great year as a Clinical Chief Resident National Human Genome Research Institute working with Esteban Astiazaran Symonds, MD, FACMG, the Laboratory Chief fellow. Team work makes the dream work Holly E. Babcock @GenomicsMatters. No doubts Thomas Cassini, M.D. will continue the great work with the new chiefs Carolina Montaño MD,PhD and Mike Leeson

The VALID Act would significantly hinder clinical laboratories’ ability to develop & use lab-developed tests which account for majority of #genetictests. Tell Congress to oppose the current version of #VALIDAct and protect access to #LDTs! p2a.co/jvFsrsK #medicalgenetics

Cystic fibrosis DOES occur in Asians; the assumption that CF is extremely rare in Asians has fostered inequities in screening, diagnosis, and treatment @svaidy02 Zachary Sellers #genetics #ModulatorTherapies #NewbornScreening #CysticFibrosis gimjournal.org/article/S1098-…

Dana-Farber Cancer Institute will launch a program to encourage oncologists to test for #DPYD that significantly increases the risk of life-threatening and costly toxicities in some patients receiving the chemotherapies 5-FU (#fluo…lnkd.in/gZ5dVb2W lnkd.in/gVZmSVpT

Genome sequencing-first approach takes the win! GS outperforms CMA & Fragile X testing in individuals with ID/NDD. #genetics #labgenetics Anna Lindstrand bit.ly/3LpW1co

Are you a student interested in genomics and education? Apply to the Inter-Society Coordinating Committee for Practitioner Education in Genomics Scholars Program for hands-on experience developing genomics education resources! Apply by Nov. 1: genome.gov/iscc

Last but not least, the Americas are joining #RareDiseaseDay activities! Whether they wear their best sneakers 👟 or ice skates ⛸️, the rare disease community is ready to act for rare! Are you ready to follow their example? Check out what's going on 👉 rarediseaseday.org/category/event…

Fantastic talk by @atgcbag about the executive and adaptive function in adult patients with MSUD. This highlights the importance of the approaches for the management of adults with inherited metabolic diseases. #SIMD2023

Presenting our projects in Alkaptonuria #SIMD2023

También se habla español. Latinoamérica presente en #SIMD2023

58% of #patients w/ #germline PGVs don't meet National Comprehensive Cancer Network (NCCN) guidelines b/c they don't have the 'right type' of #Cancer 60% of positive #patients don't meet National Comprehensive Cancer Network (NCCN) guidelines b/c they don't have enough family members w/ #Cancer #Genetictesting guidelines "...need to be revised"

Nearly 10% of Americans live with a rare disease— and fighting them requires collaboration. Read about Yale’s new partnership with the NORD Rare Disease Centers of Excellence network to help individuals and families struggling with rare diseases. medicine.yale.edu/news-article/y…

Excited to join the amazing clinical team Yale Department of Genetics as an Assistant Professor 🤓🧬

HUGE welcome to new Assistant Professor Yale School of Medicine Teodoro Jerves Serrano, MD!! Dr. Jerves Serrano received his medical degree from University of Cuenca, Ecuador and later trained at Morristown Medical Center and the NIH. We are thrilled to welcome him to the genetics department!