Ada Hamosh

Human Genome Meeting (HGM) 2023 in Rio de Janeiro, Brazil is coming! May 4-6, 2023 at Windsor Barra Hotel. Don't miss the great scientific & educational programs! hugo-hgm2023.org/programa.asp @AdaHamosh @carninci

@HelenVFirth @SerenaNikZainal @JemilahMahmood @MariaJasin @SwisherLab @Ddysmo @AdrianaHeguy @EllardSian @InesBarroso4 @arkadyevna @Farooqi_Lab @carolinefwright @annekeluc @splon @Jane_genetics @gm_jill @SusanWhiteAuth1 @hcmefford @AnneOtation @ksamocha Thank you Helen! So honored to be on your list. You are certainly on mine. Here's mine: Judy Hall, @HelenVFirth, @HeidiRehm, @clesemartin, @splon, @ksamocha, Anne Ferguson-Smith, @Ddysmo, Mimi Blitzer, Cynthia Morton

@SerenaNikZainal @JemilahMahmood @MariaJasin @SwisherLab @Ddysmo @AdrianaHeguy @EllardSian @InesBarroso4 @arkadyevna @Farooqi_Lab Thank you Serena! Thanking 10 inspiring women 🙏. @carolinefwright @annekeluc @splon @Jane_genetics @gm_jill @SusanWhiteAuth1 @hcmefford @AnneOtation @ksamocha @AdaHamosh Keep it going! ⭐️

Thank you Charlotte! Vv honoured! Thanking TEN lovely ladies for their leadership and advocacy in so many areas! 🧬👩🏻‍⚕️🩸🏨💉🌡🦠🩺📊 👩🏻‍🔬 Keep it going! @JemilahMahmood @MariaJasin @SwisherLab @HelenVFirth @Ddysmo @AdrianaHeguy @EllardSian @InesBarroso4 @arkadyevna @Farooqi_Lab

@KBGenesBrains @CarvillLab Nobody owns a condition. Having it named after authors ties it to the original report(s).

Plz can we stop naming genetic disorders after the people who ‘discovered’ them. Rett, Dravet.. I’m good w/those, they where described by clinicians who recognized clinical features - often a lifetime of work. But in the exome era it borders on grandiosity&is just plain confusing

@CarvillLab Naming a condition after a gene is dangerous, as over 1/3 of known disease genes have more than one disorder caused by it. It is ok for a lab to do this, but is not clinically useful. Patients come to clinical attention because they have features not because of a gene.

@CarvillLab Humans have trouble remembering gene symbols and some are virtually unpronounceable. OMIM tries to name disorders after the features (creating an acronym or initialism). If there are too many features, this becomes cumbersome. An eponym is memorable.

Read about how DECIPHER’s major new release brings power to clinical genomics: buff.ly/2NaWt0V

Congratulations to the OMIM team! OMIM has more than 25,000 entries as of today. Thanks for all the hard work!

@joelhirschhorn @BostonChildrens Congratulations Joel!

@GeneticsSociety @dgmacarthur @broadinstitute Congratulations! A perfect recipient for this inaugural award.

@dgmacarthur Mazel Tov! What a beautiful baby!

@rahman_nazneen @OmimOrg Thanks Naz!

@cshperspectives @rahman_nazneen @OmimOrg Just think of it as OMIM. Forget what it stands for if it bothers you. 50 years MIM & 30 years OMIM is a long time.

Hal Dietz, Ada Hamosh, Christina Peroutka, Hind Al Sharhan, and Anya Mezina at OMIM exhibit opening, May 4, 2017

Celebration cake!

Dr. Anne McKusick with genetics residents at OMIM celebration May 4, 2017

Celebrating OMIM's 50th anniversary at the Welch medical library on the Johns Hopkins Medicine campus.

Dr Cara Skraban describes using @GeneMatcher to initiate collaboration for describing WDR26 haploinsufficiency syndrome #ACMGMtg17