MD, PhD. Professor of Genetics @ University of Kinshasa, DR Congo PI of the African Rare Diseases Initiative (ARDI) Director Réseau National Maladies Rares, DRC
Kinshasa, RD Congo
Joined August 2015
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Excited to join the #ICoNS Annual Conference (23–24 Oct)
I’ll be part of a panel on the public health impact of genomic newborn screening, a key issue as Africa builds national genome programs & prepares for the rise of genetic diseases.
Register : iconseq.org/icons-25
Aimé Lumaka retweeted
To commemorate International Rare Disease Day, the CRMRND organized a conference on neuromuscular diseases. Our guest was Dr Andoni Urtizberea,from France, one of the world's leading experts on neuromuscular diseases.
I'm speaking at the #ASHG2024 meeting of the @GeneticsSociety in Denver. Join my talk on the secondary findings in 381 participants in the DDD-Africa
Session 76 - Translating Genetics into Screening
Friday 11/8/2024 11:00:00 - 11:15:00 AM
Venue: room 401, Colorado Conv Center
On my way to #Ethiopia for the @AfricaCDC consultative meeting of the setting the a continental agenda for genomic medicine and precision public health in Africa.
Looking forward to 3 fruitful days in #Ethiopia
At the #Eurodysmorphomeeting2024, our @Prince_Roy15 shared results from Congolese patients with Developmental Disorders investigated with #wholeexomesequencing in the #DDD-AFRICA research project.
The spectrum of Molecular diagnosis is very broad with many novel causal variants
We were among the speakers at the #EuroDysmorphomeeting2024 currently taking place in Slovenia. I presented the first genetic results of Congolese patients with unexplained developmental disorders, analyzed within the framework of the DDD-Africa project.
The call for diversity is now being heard from scientists, advocates, funders, and more stakeholders.
However, diversity in genomics is complex and encompasses more than just geography, gender, and ethnicity.
What do we mean by diversity in data in genetics, and how should we achieve the benefits it is designed to bring? Piece in Nature Genetics out today, summarizing a new GA4GH policy framework. A thread. rdcu.be/dTpfu
The policy framework offers a multilayered understanding of the diversity in genomic datasets and proposes that researchers consider WHY diversity is needed in their study, WHAT type(s) of diversity is needed to reach the goals of their research, and HOW to reach this diversity.
The full policy framework is available on the #G4GH website. You can also learn about this policy by reading our recent comments in #NatureGenetics
I'm happy to have worked with @acflewis and other #GHGH members.
News ⚠️
The @ARDI_Africa is ADVANCING GENOMIC MEDICINE THROUGH RARE DISEASES RESEARCH IN #AFRICA.
This week, our @Prince_Roy15 is in #Maniema. He had the honor to inaugurate the local antenna, train local team and offer free consultations.
@WilhelmFound @NHGRI_Director
Congratulations @marcyambayamba
👏👏👏
It was great presenting our work at the #2024GHS Conference in Sydney and networking with experts coming from around the world. Take home msg : there’s need to consider stakeholders’ perspectives to contextualise prevention strategies and policies for pandemic prevention in DRC.
Through testing and following 1000 ##rarediseases patients from both developped and developing countries, we showed that the clinical utility of genetic testing is at least similar in both settings.
You can read more in the @AJHGNews
doi.org/10.1016/j.ajhg.2024.…
Aimé Lumaka retweeted
We are honored you all took the effort.
What amazing three days.
—> and we have reached 10(!!!) diagnoses (of 42 undiagnosed RD cases).
Incredibly strong community and commitment by so many.
Today was the last day of the #undiagnoseddiseaseshackathon in #Nijmegen.
I'm proud of all the scientists who came from all around the world to offer their expertise to solve undiagnosed patients.
Thank you @WilhelmFound #Wendy @ahoischen @LisenkaVissers all the #Nijmegen team
Great seeing you as well @shahida_moosa @StefanBarakat.
Good and efficient friendship.
See you before the next ##undiagnoseddiseaseshackathon
#undiagnosedhackathon2024
Lovely to meet old friends - @ARDI_Africa @aimelumaka @GMubungu @StefanBarakat @Prince_Roy15
Hope to see you again soon!
The ##undiagnoseddiseaseshackathon2024 was an opportunity for great fellowship within the #undiagnoseddiseases community
Today was the last day of the #undiagnoseddiseaseshackathon in #Nijmegen.
I'm proud of all the scientists who came from all around the world to offer their expertise to solve undiagnosed patients.
Thank you @WilhelmFound #Wendy @ahoischen @LisenkaVissers all the #Nijmegen team
The #undiagnosedhackathon2024 has just started.
About 120 experts gathered around 42 undiagnosed patients and massive data to analyze.
We hope to provide diagnostic to many families over those 2 days.
My personnal expectation is 70%.
Let's make sens of data for the 42 families.
Aimé Lumaka retweeted
L'orateur de ce Jeudi 30 Mai 2024 à 20h00 (UTC+1), le Prof. Dr Joseph Bodi, Pédiatre, Paludologue et Médecin Directeur adjoint des CUK, nous partagera ses recherches sur les aspects génétiques de la fièvre bilieuse hémoglobinurique.
Lien: us06web.zoom.us/j/8321307291…
I would have enjoyed the Dysmorphology workshops and the session on AI in the next generation Dysmorphology.
Have fun and do not forget to share and post. See you at the next one.
@SofiaDouzgou @eshgsociety @KrawitzPeter
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Very proud of our students and my University @Unikinrdc for this amazing performance.
Keep it up #RDCELOKOYAMAKASI
L’Université de Kinshasa (République Démocratique du Congo) a remporté la deuxième place. Le prix du « Meilleur orateur » a été décerné à Débora Sabanga du concours de procès fictif de la Cour pénale internationale (CPI)
unikin.ac.cd/index.php/luniv…
