Physician-Scientist. Child Neurologist. Epilepsy Specialist. Researcher in Neurogenetics. 👩🏻⚕️👩🏻🔬👩🏻🏫👩👧👦 Breaking Stereotypes
Kuwait
Joined August 2015
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Dana Marafi retweeted
فيديو: مداخلة د.دانة معرفي في برنامج (مساء الخير ياكويت) عن مرض الصرع عند الأطفال @Danamarafi
alziadiq8.com/537531.html
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/…
Dana Marafi retweeted
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
فيديو: لقاء د.دانة معرفي في برنامج (مساء الخير ياكويت) عن الوراثة العصبية @Danamarafi
alziadiq8.com/513548.html
My interview on the Good Morning Kuwait show at KTV2 to raise awareness on undiagnosed disease
#UndiagnosedDiseaseDay
Video: Interview with Dr. Dana Marafi – Discussion About Genetic disorder On Good Morning Kuwait show KTV 2 @Danamarafi
alziadiq8.com/511649.html
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
Dana Marafi retweeted
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.
Dana Marafi retweeted
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.050715
ALT Written quote: Detecting and characterizing founder mutations within an isolated group could greatly help understanding the disease history and genealogy, and have several implications on disease diagnosis, management, and prevention
Dana Marafi retweeted
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.
Dana Marafi retweeted
🎖️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-news/p… #ASHG24
ALT ASHG 2024 Lifetime Achievement Awardee Margaret A. Pericak-Vance, PhD accepting her award during the ASHG 2024 Annual Meeting in Denver, CO
ALT ASHG 2024 Lifetime Achievement Awardee James R. Lupski, MD, PhD, DSc accepting his award during the ASHG 2024 Annual Meeting in Denver, CO.
Dana Marafi retweeted
🎖️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-news/p…
ALT 2024 ASHG Lifetime Achievement Award James R. Lupski, MD, PhD, DSc
Congratulations Jim on the ASHG lifetime achievement award! We couldn’t be prouder! @LupskiLab
Congratulations, Dr. Lupski! @LupskiLab, recipient of an #ASHG @GeneticsSociety Lifetime Achievement Award! @bcmhouston @bcmgenetics @GREGoR_research @BCM_HGSC @TexasChildrens
Congratulations Jim!! So well-deserved. I’m so lucky to have been one of your mentees.
Dr. James R. Lupski: 2024 #Mendel Lecturer and recipient of the #GildedPea Award! @LupskiLab @bcmgenetics @BCMDeptMedicine @BCM_HGSC @GREGoR_research @eshgsociety @BCMGradSchool @BCM_GradDiverse @BCM_MSTP @TexasChildrens. Image @cpschaaf blogs.bcm.edu/2024/07/25/fro…… @bcmhouston
Dana Marafi retweeted
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/…
Dana Marafi retweeted
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
The Call for Papers for our new collection, Genomic research and clinical interventions for rare diseases is open for submissions.
Guest edited by @AnnaLindstrand1 and @CMBCarvalho
Submission Deadline: 16 April 2025
biomedcentral.com/collection…
Dana Marafi retweeted
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
Dana Marafi retweeted
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
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/…
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/…