Ada Hamosh

[Human Genome Org @humangenomeorg]

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! https://t.co/56PpKgm0yd @AdaHamosh @carninci

[Ada Hamosh @AdaHamosh]

@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

[Ada Hamosh @AdaHamosh]

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

[Ada Hamosh @AdaHamosh]

@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.

[Ada Hamosh @AdaHamosh]

@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.

[The DECIPHER Project @deciphergenomic]

Read about how DECIPHER’s major new release brings power to clinical genomics: https://t.co/3WeHr6OKZM

[Ada Hamosh @AdaHamosh]

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

[Ada Hamosh @AdaHamosh]

@joelhirschhorn @BostonChildrens Congratulations Joel!

[Ada Hamosh @AdaHamosh]

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

[Ada Hamosh @AdaHamosh]

@dgmacarthur Mazel Tov! What a beautiful baby!

[Ada Hamosh @AdaHamosh]

@rahman_nazneen @OmimOrg Thanks Naz!

[Ada Hamosh @AdaHamosh]

@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.

[Ada Hamosh @AdaHamosh]

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

[Ada Hamosh @AdaHamosh]

Celebration cake!

[Ada Hamosh @AdaHamosh]

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

[Ada Hamosh @AdaHamosh]

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

[MatchmakerExchange @MatchMExchange]

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