Dana Marafi

Check out our new paper on a potential novel genetic cause of syndromic craniosynastosis Novel Biallelic TGFBR3 Mutation in Brothers Presenting With Craniosynostosis - Elshafie - American Journal of Medical Genetics Part A - Wiley Online Library onlinelibrary.wiley.com/doi/10.1002/aj…

فيديو: بودكاست (قبل العصر) يستضيف د.دانة نادر معرفي و حلقة عن مفهوم الفحص الجيني عبر تلفزيون الكويت @Danamarafi alziadiq8.com/520566.html

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

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

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

What a great trip to #Kuwait! I am grateful to @Danamarafi & 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.

@DanielGCalame It was such a great pleasure to have you here in Kuwait Daniel! Thank you for your wonderful talks and contribution to the success of the conference. Hopefully, first of many more visits to the region!

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

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 حالة، وبعضها قد تكون الوحيدة عالميًا.

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

🎖️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: #lupski" target="_blank" rel="nofollow noopener">ashg.org/publications-n…

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

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

@zain_dardas @LupskiLab Wow!! Congratulations Dr. Dardas!!!

🎉 I’m thrilled to share that I’ve successfully completed my PhD in Genetics and Genomics at BCM! Huge thanks to my advisor Prof. James R. Lupski, committee, colleagues, friends, and family for their unwavering support. Excited for the future and new opportunities ahead!

@IStedman @YorkUniversity Featured: our second Most read DMM article 🏅📚 . In this #DMMPerspective, @Danamarafi 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…

If you are preparing an exciting new publication on genomic research and clinical intervention in #RareDiseases , please check the new @GenomeMedicine collection below. Submission deadline: 16 April 2025 @LindstrandAnna @GREGoR_research @eurordis @RareDiseases

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 @MCBSeattle #Genomics #ScienceMatters

@TikaTkemaladze @DMM_Journal Thank you Tika for your kind words. I’d love to read your work and findings once your study is finalized!

@Danamarafi @DMM_Journal So very interesting, read the paper like one grasp. Currently we are also investigating rare diseases in Georgia's isolated ethnic Azerbaijani community, the preliminary results are extremely interesting!

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 @Danamarafi about founder mutations in the Arab world and how understanding them offers great benefits for the scientific field and society! #raredisease