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Dr. Sungrim Moon — an NIH Intramural DATA Scholar with NCATS — discusses the use of #ArtificialIntelligence in combination with patient data to identify #RareDiseases with similar causes or disease pathways. Read how this approach could impact #ClinicalTrials! ⬇️

Exploring the Relationship Between #AirPollution and Primary #GlomerularDiseases New in CKJ from the #NephroticSyndrome Study Network (NEPTUNE): academic.oup.com/ckj/article/18…

With many research programs & activities that impact the #RareDiseases community, we remain a leader in rare diseases research. We work with patients, advocates & researchers to get more treatments for all people more quickly. Explore our impact: go.nih.gov/kfEmH06

Today is Global #HereditaryHemorrhagicTelangiectasia (HHT) Awareness Day! ➡️ Learn more about HHT: rarediseasesnetwork.org/diseases/92/he… ➡️ Check out our research: bvmc.rarediseasesnetwork.org ➡️ Get involved with our patient advocacy partner Cure HHT: curehht.org

Exploring Genetic Diversity and Phenotypes in #Dystonia New in Wiley Neuro American Neurological Association from the #Dystonia Coalition: onlinelibrary.wiley.com/doi/10.1002/ac…

Using #GenomeSequencing to Identify Additional Molecular Diagnoses in #PhelanMcDermid Syndrome New research from the Developmental Synaptopathies Consortium (DSC): onlinelibrary.wiley.com/doi/10.1002/aj…

“[NIH recognizes] how important it is to have patients or patient organizations involved in the research because they know the realities of these conditions.” — NCATS Division of Rare Diseases Research Innovation Director Dr. Dominique Pichard Read about our impact on

Help us and U.S. FDA crowdsource experiences with rare cancers! People with #RareDiseases, caregivers and physicians are invited to use the CURE ID form to describe the disease, share treatments they've tried and discuss the outcomes of the treatments. Learn more.⬇️

Characterizing Diagnostic Delays in #MetachromaticLeukodystrophy New in The Journal of Inherited Metabolic Disease from TheGLIA_CTN: onlinelibrary.wiley.com/doi/10.1002/ji…

Validating the Patient-Acceptable Symptom State (PASS) Question in Acetylcholine Receptor #MyastheniaGravis New in European Journal of Neurology from Myasthenia Gravis Rare Disease Network (MGNet): onlinelibrary.wiley.com/doi/10.1111/en…

#RescueTherapy can help improve a #MyastheniaGravis clinical trial participant's symptoms, but it can also change their reaction to the study treatment. How should we account for this? Justin Leach, PhD, of Myasthenia Gravis Rare Disease Network (MGNet) says #StatisticalModels can help: rarediseasesnetwork.org/news/consortiu…

Diagnosing a New Case of Mannosyl-Oligosaccharide Glucosidase-#CongenitalDisorderOfGlycosylation New in Clinical Chemistry from FCDGC: academic.oup.com/clinchem/artic…

How can we enhance collaboration between #RareDisease principal investigators and patient advocacy groups? Members of the Rare Diseases Clinical Research Network share real-world examples and lessons: journals.sagepub.com/doi/10.1177/26…

Evaluating #HealthRelatedQualityOfLife and Family Function in #CLN3 #BattenDisease New in pedneurojournal from the #LysosomalDisease Network (LDN): pedneur.com/article/S0887-…

For 10 years, the Illuminating the Druggable Genome (IDG) program has helped expand the knowledge base of understudied protein families. Many researchers now see the beginning of a new era of #DrugDiscovery thanks to the tools created & data gathered through #IDG!

We’re excited to share the initial public release of the #BiomedicalData Translator! Translator is an #ArtificialIntelligence tool that harmonizes data sources & interprets them, empowering researchers to explore evidence-based strategies for both understanding & treating

Have you read our July 2025 Spotlight on #RareDiseases newsletter? Check it out here! ➡️ mailchi.mp/rdcrn/spotligh…

The Drug Discovery, Development & Deployment Maps (4DM) lay out the modern therapeutic development process for small molecules & biologics. Visualizing these processes can help increase understanding & identify opportunities to expedite new therapies. Explore the #4DM:

New research from the Developmental Synaptopathies Consortium: ✅ Exploring Genomic Diversity and Neurodevelopmental Versus Cancer Risks in #PHTS ✅ Using Genome Sequencing to Identify Molecular Diagnoses in #PhelanMcDermid Syndrome Listen and read more: rarediseasesnetwork.org/news/research-…