Daniel Calame, MD, PhD
@DanielGCalame
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Neurologist studying developmental disorders of movement & cognition. #CerebralPalsy, #RareDisease, #neurogenetics @BCMChildNeuro, BCM @GREGoR_research program.
Houston, TX
Joined July 2019
Check it out! @MoezDawood
New in @Nature! “GREGoR: Accelerating Genomics for Rare Diseases” highlights how the GREGoR Consortium is advancing rare disease discovery through data sharing, multi-omics, and next-gen sequencing across 7,500 individuals in 3,000+ families. 🧬 https://t.co/arZjAkYGz2
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FLVCR1 Deficiency Impairs Mitochondrial Homeostasis in Retinal Degeneration: Choline as a Potential Therapy https://t.co/QoP6syzrpK
onlinelibrary.wiley.com
Background The Feline Leukaemia Virus Subgroup C Receptor 1 (FLVCR1) has been recognized as a heme exporter essential for erythropoiesis, and emerging research identifies its novel function as a...
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Trio-barcoded @nanopre Adaptive Sampling (TBAS) to improve #RareDisease diagnostic at less than 1/2 the $$ & high cov: 76% solve rate across 13 trios inc. two corrections from prev. diagnosis. https://t.co/HbjvhTjTPn
@fuyvei96 @GREGoR_research @BCM_HGSC #Genetics #bioinformatics
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Trio-barcoded ONT adaptive sampling, a new cost-effective long-read sequencing strategy for rare disease research & diagnostics. Check out our preprint: https://t.co/AzoWXtBA0B
medrxiv.org
We present Trio-barcoded ONT Adaptive Sampling (TBAS), a cost-efficient long-read sequencing strategy combining sample barcoding and adaptive enrichment to sequence rare-disease trios on a single...
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Illumina's Constellation technology has a lot of potential for rare disease research and clinical diagnostics. Check out our preprint: https://t.co/HnzTpsg86r
medrxiv.org
Despite significant advances in genomic sequencing, the resolution of many rare disease cases is still hindered by variant detection limitations. Short reads struggle in homologous regions, and long...
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Today at #ASHG25, Chloe Munderloh will be speaking in Session 27, 1:30-2:30 PM, about how the BCM @GREGoR_research team has been using long-read multi-omics to tackle the most challenging Mendelian disease cases! Come check it out.
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At #ASHG2025? Check out From Data to Diagnosis: Advancing Rare Disease Research through Collaborative Genomics tomorrow from 8:30-10:00 AM. Work from the @GREGoR_research consortium will be discussed, including our work on FLVCR1!
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Here are a few more pictures from the NALCN conference. Great turnout!
Had a great time participating in a panel and speaking at the 2nd #NALCN Channel & Related Disease International Conference in San Antonio. The patients, families, and leadership of @Channeling13995 is moving NALCN channelosomopathies forward!
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Had a great time participating in a panel and speaking at the 2nd #NALCN Channel & Related Disease International Conference in San Antonio. The patients, families, and leadership of @Channeling13995 is moving NALCN channelosomopathies forward!
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My @RiceUniversity student Tianmin Yang has done great work studying clinically-relevant ancestry-enriched variants in gnomAD. I am so glad this was recognized with a platform presentation at #CNS2025.
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I had to leave #CNS2025 early but enjoyed talking about FLVCR1-related neurodevelopmental disorders at the CNCDP K12 retreat!
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Looking forward to presenting virtually at the 13th ATP1A3 in Disease Symposium on Tuesday. Hoping the folks in Cairns at the 17th International Meeting on P-Type ATPases in Health & Disease will still be awake 😀
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We just wrapped up the last @GREGoR_research consortium meeting in Coronado Bay. It is sad to see the end of the program, but we know its legacy will be lasting.
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Pervasive mislocalization of pathogenic coding variants underlying human disorders: Cell
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