I am very exited to share my perspective paper on Founder mutations and rare disease in the Arab world that just came out in DMM Journal as part of a special issue on rare disease! journals.biologists.com/dmm/article/17…

Read this important #DMMPerspective by Dana Marafi about founder mutations in the Arab world and how understanding them offers great benefits for the scientific field and society! #raredisease

Don't miss PNRI's Science Matters seminar! Dr. Davut Pehlivan from Baylor College of Medicine @BCMHouston will discuss how studies of MECP2 Duplication Syndrome are shaping its treatment. Register now! ow.ly/9zCj50StjkM Seattle MCB Program #Genomics #ScienceMatters

If you are preparing an exciting new publication on genomic research and clinical intervention in #RareDiseases , please check the new Genome Medicine collection below. Submission deadline: 16 April 2025 Anna Lindstrand GREGoR Consortium EURORDIS-Rare Diseases Europe National Organization for Rare Disorders (NORD)

@IStedman York University Featured: our second Most read DMM article 🏅📚 . In this #DMMPerspective, Dana Marafi discusses the implications of founder mutations leading to increased prevalence of rare diseases in isolated groups, with a focus on the Arab world. #MostReadMonday journals.biologists.com/dmm/article/17…

Congratulations Jim!! So well-deserved. I’m so lucky to have been one of your mentees.

Congratulations Jim on the ASHG lifetime achievement award! We couldn’t be prouder! LupskiLab

🎖️Congratulations to James R. Lupski, MD, PhD, DSc, winner of the ASHG 2024 Lifetime Achievement Award! Learn more about the award and Dr. Lupski's work: ashg.org/publications-n…

🎖️Congratulations to the ASHG 2024 Lifetime Achievement Awardees James R. Lupski, MD, PhD, DSc (BCMHouston), and Margaret A. Pericak-Vance, PhD (Miller Medicine)! Learn more about the award and their work here: ashg.org/publications-n… #ASHG24

فيديو / الدكتورة دانه معرفي: أكاديمية الكويت للأمراض النادرة تشارك في مؤتمر ومعرض “دمج ذوي الإعاقة لنشر الوعي من غايات التنمية المستدامة” في جامعة الكويت، لدعم الأسر وتمثيلها في الفعاليات ونشر الوعي. • الأمراض النادرة تصيب 1 من كل 2000 شخص، وفي الكويت يُتوقع أن يكون هناك 500

The Francis Crick Institute Founder mutations account for the increased prevalence of certain #rarediseases within isolated groups in different populations. In this Perspective, Dana Marafi Dana Marafi discusses the implications of studying founder mutations in the Arab World. doi.org/10.1242/dmm.05…

What a great trip to #Kuwait! I am grateful to Dana Marafi & Kuwait Medical Genetic Center for their hospitality & the invitation to the Genetic Frontiers conference. I am greatly impressed by the state of genomic medicine & science in Kuwait & neighboring Gulf States.

On April 29, the Undiagnosed Day, we at Kuwait Academy for Rare Disease, pledge to see and meet families and children living with an undiagnosed disease and work with regional and international researchers towards finding a diagnosis. #undiagnosedday2025

My interview on the Good Morning Kuwait show at KTV2 to raise awareness on undiagnosed disease #UndiagnosedDiseaseDay

مقابلتي في تلفزيون الكويت عن الوراثه العصبيه My interview in Arabic on Good Evening Kuwait show on KTV1 on the field of neurogenetics and the importance of genetics testing and premarital screening