🎧 New Shortcast
Raised citrulline on newborn screening but what if it points to two disorders needing very different management?
Dr Anne Kwok presents a diagnostic dilemma.
soundcloud.com/user-1090061...
🎧 Listen wherever you get the JIMD Podcast.
#CitrinDeficiency #NewbornScreening #JIMDPodcast
Raised citrulline on newborn screening but what if it points to two disorders needing very different management?
Dr Anne Kwok presents a diagnostic dilemma.
soundcloud.com/user-1090061...
🎧 Listen wherever you get the JIMD Podcast.
#CitrinDeficiency #NewbornScreening #JIMDPodcast
Shortcast: Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD)
One newborn screen. Two very different diagnoses. And treatments that pull in opposite directions.
In this JIMD Reports Shortcast, Dr Anne Kwok from Hong Kong Children’s Hospital presents a newborn w
soundcloud.com
September 29, 2026 at 1:42 PM
🎧 New Shortcast
Raised citrulline on newborn screening but what if it points to two disorders needing very different management?
Dr Anne Kwok presents a diagnostic dilemma.
soundcloud.com/user-1090061...
🎧 Listen wherever you get the JIMD Podcast.
#CitrinDeficiency #NewbornScreening #JIMDPodcast
Raised citrulline on newborn screening but what if it points to two disorders needing very different management?
Dr Anne Kwok presents a diagnostic dilemma.
soundcloud.com/user-1090061...
🎧 Listen wherever you get the JIMD Podcast.
#CitrinDeficiency #NewbornScreening #JIMDPodcast
Remethylation disorders are clinical chameleons but often easy to detect if someone thinks to measure total homocysteine.
Martina Huemer joins the JIMD Podcast to discuss revised guidelines, high-dose hydroxocobalamin and why shared treatment protocols matter.
🎧 open.spotify.com/episode/42AR...
Martina Huemer joins the JIMD Podcast to discuss revised guidelines, high-dose hydroxocobalamin and why shared treatment protocols matter.
🎧 open.spotify.com/episode/42AR...
September 22, 2026 at 2:08 PM
Remethylation disorders are clinical chameleons but often easy to detect if someone thinks to measure total homocysteine.
Martina Huemer joins the JIMD Podcast to discuss revised guidelines, high-dose hydroxocobalamin and why shared treatment protocols matter.
🎧 open.spotify.com/episode/42AR...
Martina Huemer joins the JIMD Podcast to discuss revised guidelines, high-dose hydroxocobalamin and why shared treatment protocols matter.
🎧 open.spotify.com/episode/42AR...
Creatine does more than replace what's missing in GAMT deficiency 🧬
In GAMT-deficient mice, supplementation ↓ GAA by downregulating AGAT – revealing the mechanism behind a long-recognised treatment effect.
But GAA remained elevated in tissues.
doi.org/10.1002/jimd...
In GAMT-deficient mice, supplementation ↓ GAA by downregulating AGAT – revealing the mechanism behind a long-recognised treatment effect.
But GAA remained elevated in tissues.
doi.org/10.1002/jimd...
September 18, 2026 at 9:19 AM
Creatine does more than replace what's missing in GAMT deficiency 🧬
In GAMT-deficient mice, supplementation ↓ GAA by downregulating AGAT – revealing the mechanism behind a long-recognised treatment effect.
But GAA remained elevated in tissues.
doi.org/10.1002/jimd...
In GAMT-deficient mice, supplementation ↓ GAA by downregulating AGAT – revealing the mechanism behind a long-recognised treatment effect.
But GAA remained elevated in tissues.
doi.org/10.1002/jimd...
Sarcopenia was identified in 40% of 45 children with severe MSUD, organic acidurias or UCDs being assessed for liver transplantation.
It was linked to poorer growth, enteral feeding and lower essential amino acids; leucine was an independent predictor.
doi.org/10.1002/jimd...
It was linked to poorer growth, enteral feeding and lower essential amino acids; leucine was an independent predictor.
doi.org/10.1002/jimd...
September 17, 2026 at 8:24 AM
Sarcopenia was identified in 40% of 45 children with severe MSUD, organic acidurias or UCDs being assessed for liver transplantation.
It was linked to poorer growth, enteral feeding and lower essential amino acids; leucine was an independent predictor.
doi.org/10.1002/jimd...
It was linked to poorer growth, enteral feeding and lower essential amino acids; leucine was an independent predictor.
doi.org/10.1002/jimd...
Where does the value of a treatment really lie?
In ultra-rare disease, preserving independence or slowing progression can be profoundly meaningful even when conventional measures miss it.
A new Patient Perspective calls for lived experience and real-world evidence to count
doi.org/10.1002/jimd...
In ultra-rare disease, preserving independence or slowing progression can be profoundly meaningful even when conventional measures miss it.
A new Patient Perspective calls for lived experience and real-world evidence to count
doi.org/10.1002/jimd...
September 17, 2026 at 7:26 AM
Where does the value of a treatment really lie?
In ultra-rare disease, preserving independence or slowing progression can be profoundly meaningful even when conventional measures miss it.
A new Patient Perspective calls for lived experience and real-world evidence to count
doi.org/10.1002/jimd...
In ultra-rare disease, preserving independence or slowing progression can be profoundly meaningful even when conventional measures miss it.
A new Patient Perspective calls for lived experience and real-world evidence to count
doi.org/10.1002/jimd...
The authors included RRIDs in their in JIMD Reports paper! Thanks for making your methods matter! #OpenScience #methodsmatter #OpenResearch
Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development
Read the full paper: Asparagine Synthetase Deficiency: Neuropathological Evidence of Disrupted Cortical Development
doi.org
September 16, 2026 at 7:39 PM
The authors included RRIDs in their in JIMD Reports paper! Thanks for making your methods matter! #OpenScience #methodsmatter #OpenResearch
ATP synthase defects share impaired ureagenesis but their biochemical signatures differ.
🔴 Hyperammonaemia characterises TMEM70 crises
🔵 Persistent hypocitrullinaemia characterises MT-ATP6 deficiency
Siri et al. in JIMD:
doi.org/10.1002/jimd...
🔴 Hyperammonaemia characterises TMEM70 crises
🔵 Persistent hypocitrullinaemia characterises MT-ATP6 deficiency
Siri et al. in JIMD:
doi.org/10.1002/jimd...
September 16, 2026 at 12:57 PM
ATP synthase defects share impaired ureagenesis but their biochemical signatures differ.
🔴 Hyperammonaemia characterises TMEM70 crises
🔵 Persistent hypocitrullinaemia characterises MT-ATP6 deficiency
Siri et al. in JIMD:
doi.org/10.1002/jimd...
🔴 Hyperammonaemia characterises TMEM70 crises
🔵 Persistent hypocitrullinaemia characterises MT-ATP6 deficiency
Siri et al. in JIMD:
doi.org/10.1002/jimd...
#hotosm-project-27198 Building/Roads Mapping in #Kyushu #CrisisMappersJAPAN #FuruhashiLab #DRONEBIRD #YouthMappersAGU#ESAValidationfellowship2025 by JImD https://www.openstreetmap.org/changeset/189068530
Changeset: 189068530
OpenStreetMap is a map of the world, created by people like you and free to use under an open license.
www.openstreetmap.org
September 15, 2026 at 3:50 PM
#hotosm-project-27198 Building/Roads Mapping in #Kyushu #CrisisMappersJAPAN #FuruhashiLab #DRONEBIRD #YouthMappersAGU#ESAValidationfellowship2025 by JImD https://www.openstreetmap.org/changeset/189068530
When do cognitive trajectories diverge in MPS II?
Follow-up of 23 males over as long as 14 years found early stagnation and decline in neuronopathic MPS II, with the earliest, most severe impairment in those with IDS deletions.
Timing matters for brain-targeted treatment.
doi.org/10.1002/jimd...
Follow-up of 23 males over as long as 14 years found early stagnation and decline in neuronopathic MPS II, with the earliest, most severe impairment in those with IDS deletions.
Timing matters for brain-targeted treatment.
doi.org/10.1002/jimd...
September 13, 2026 at 6:03 PM
When do cognitive trajectories diverge in MPS II?
Follow-up of 23 males over as long as 14 years found early stagnation and decline in neuronopathic MPS II, with the earliest, most severe impairment in those with IDS deletions.
Timing matters for brain-targeted treatment.
doi.org/10.1002/jimd...
Follow-up of 23 males over as long as 14 years found early stagnation and decline in neuronopathic MPS II, with the earliest, most severe impairment in those with IDS deletions.
Timing matters for brain-targeted treatment.
doi.org/10.1002/jimd...
🧬 BCKDK deficiency turns BCAA metabolism on its head.
Loss of the kinase leaves BCKDH permanently active → BCAA depletion, not accumulation.
A new #JIMD review looks at treatment, the importance of early diagnosis & why newborn screening may deserve consideration.
doi.org/10.1002/jimd...
Loss of the kinase leaves BCKDH permanently active → BCAA depletion, not accumulation.
A new #JIMD review looks at treatment, the importance of early diagnosis & why newborn screening may deserve consideration.
doi.org/10.1002/jimd...
September 12, 2026 at 4:46 PM
🧬 BCKDK deficiency turns BCAA metabolism on its head.
Loss of the kinase leaves BCKDH permanently active → BCAA depletion, not accumulation.
A new #JIMD review looks at treatment, the importance of early diagnosis & why newborn screening may deserve consideration.
doi.org/10.1002/jimd...
Loss of the kinase leaves BCKDH permanently active → BCAA depletion, not accumulation.
A new #JIMD review looks at treatment, the importance of early diagnosis & why newborn screening may deserve consideration.
doi.org/10.1002/jimd...
🧬 Early results for GLM101 in #PMM2CDG:
3 adults treated for 24 weeks showed a mean 17.7-point improvement in ICARS, with improvement across all ataxia domains and no serious adverse events.
Small, open-label study — but an encouraging signal.
doi.org/10.1002/jimd...
#JIMD #CDG
3 adults treated for 24 weeks showed a mean 17.7-point improvement in ICARS, with improvement across all ataxia domains and no serious adverse events.
Small, open-label study — but an encouraging signal.
doi.org/10.1002/jimd...
#JIMD #CDG
September 12, 2026 at 5:58 AM
🧬 Early results for GLM101 in #PMM2CDG:
3 adults treated for 24 weeks showed a mean 17.7-point improvement in ICARS, with improvement across all ataxia domains and no serious adverse events.
Small, open-label study — but an encouraging signal.
doi.org/10.1002/jimd...
#JIMD #CDG
3 adults treated for 24 weeks showed a mean 17.7-point improvement in ICARS, with improvement across all ataxia domains and no serious adverse events.
Small, open-label study — but an encouraging signal.
doi.org/10.1002/jimd...
#JIMD #CDG
🧬 Could genome editing transform treatment for glycogen storage diseases?
A new #JIMD review from Troy von Beck, Raymond Wang & Dwight Koeberl looks at progress from preclinical editing towards clinical translation and the challenges still ahead.
doi.org/10.1002/jimd...
#GSD #CRISPR #RareDisease
A new #JIMD review from Troy von Beck, Raymond Wang & Dwight Koeberl looks at progress from preclinical editing towards clinical translation and the challenges still ahead.
doi.org/10.1002/jimd...
#GSD #CRISPR #RareDisease
September 12, 2026 at 5:41 AM
🧬 Could genome editing transform treatment for glycogen storage diseases?
A new #JIMD review from Troy von Beck, Raymond Wang & Dwight Koeberl looks at progress from preclinical editing towards clinical translation and the challenges still ahead.
doi.org/10.1002/jimd...
#GSD #CRISPR #RareDisease
A new #JIMD review from Troy von Beck, Raymond Wang & Dwight Koeberl looks at progress from preclinical editing towards clinical translation and the challenges still ahead.
doi.org/10.1002/jimd...
#GSD #CRISPR #RareDisease
September 11, 2026 at 4:59 PM
September 11, 2026 at 4:58 PM
September 11, 2026 at 4:58 PM
🎙️ New JIMD Podcast
Are infections and cytopenias in organic acidemias simply consequences of metabolic crises or part of the underlying disease?
Abdul L. Shakerdi and Jerry Vockley explore the emerging link between metabolism, inflammation and immunity.
open.spotify.com/episode/5pL1...
Are infections and cytopenias in organic acidemias simply consequences of metabolic crises or part of the underlying disease?
Abdul L. Shakerdi and Jerry Vockley explore the emerging link between metabolism, inflammation and immunity.
open.spotify.com/episode/5pL1...
September 8, 2026 at 1:52 PM
🎙️ New JIMD Podcast
Are infections and cytopenias in organic acidemias simply consequences of metabolic crises or part of the underlying disease?
Abdul L. Shakerdi and Jerry Vockley explore the emerging link between metabolism, inflammation and immunity.
open.spotify.com/episode/5pL1...
Are infections and cytopenias in organic acidemias simply consequences of metabolic crises or part of the underlying disease?
Abdul L. Shakerdi and Jerry Vockley explore the emerging link between metabolism, inflammation and immunity.
open.spotify.com/episode/5pL1...
New JIMD Reports Shortcast with Dr. Dan Brooks & Dr. Fernando Scaglia exploring a PNPT1-related #mitochondrialdisease case and the therapeutic potential of JAK inhibition. bit.ly/463Nver
Shortcast: JAK Inhibition in PNPT1-Related Mitochondrial Interferonopathy
JIMD Podcasts · Episode
bit.ly
September 4, 2026 at 7:34 PM
New JIMD Reports Shortcast with Dr. Dan Brooks & Dr. Fernando Scaglia exploring a PNPT1-related #mitochondrialdisease case and the therapeutic potential of JAK inhibition. bit.ly/463Nver
Turn CLPP up or down?
Activation has reached cancer treatment; reduced activity shows promise in experimental mitochondrial disease models.
Lea Isermann & Aleksandra Trifunovic explore this therapeutic duality in JIMD.
doi.org/10.1002/jimd...
#MitochondrialDisease
Activation has reached cancer treatment; reduced activity shows promise in experimental mitochondrial disease models.
Lea Isermann & Aleksandra Trifunovic explore this therapeutic duality in JIMD.
doi.org/10.1002/jimd...
#MitochondrialDisease
September 4, 2026 at 10:49 AM
Turn CLPP up or down?
Activation has reached cancer treatment; reduced activity shows promise in experimental mitochondrial disease models.
Lea Isermann & Aleksandra Trifunovic explore this therapeutic duality in JIMD.
doi.org/10.1002/jimd...
#MitochondrialDisease
Activation has reached cancer treatment; reduced activity shows promise in experimental mitochondrial disease models.
Lea Isermann & Aleksandra Trifunovic explore this therapeutic duality in JIMD.
doi.org/10.1002/jimd...
#MitochondrialDisease
Less cornstarch, maintained glucose control: the phase 3 DTX401 gene therapy trial in #GSDIa found a 41% reduction in daily cornstarch intake at 48 weeks versus 10% with placebo.
A step towards reducing treatment burden.
doi.org/10.1002/jimd...
A step towards reducing treatment burden.
doi.org/10.1002/jimd...
September 4, 2026 at 10:41 AM
Less cornstarch, maintained glucose control: the phase 3 DTX401 gene therapy trial in #GSDIa found a 41% reduction in daily cornstarch intake at 48 weeks versus 10% with placebo.
A step towards reducing treatment burden.
doi.org/10.1002/jimd...
A step towards reducing treatment burden.
doi.org/10.1002/jimd...
Totally understandable! I just had to say something because it’s a super common victim-blaming narrative. See: R Kelly’s many victims
www.buzzfeednews.com/article/jimd...
www.buzzfeednews.com/article/jimd...
R. Kelly Is Holding Women Against Their Will In An Abusive “Cult,” Parents Told Police
As the R&B legend tours the country this summer, parents have told police that R. Kelly is keeping women against their will in an abusive "cult" that's tearing families apart. Three former members of ...
www.buzzfeednews.com
September 4, 2026 at 1:21 AM
Totally understandable! I just had to say something because it’s a super common victim-blaming narrative. See: R Kelly’s many victims
www.buzzfeednews.com/article/jimd...
www.buzzfeednews.com/article/jimd...
In this JIMD Shortcast, Dr Eamon McCarron presents a challenging pregnancy in a woman with lysinuric protein intolerance complicated by immune dysregulation and severe thrombocytopenia.
Hear how MDT care supported a favourable outcome for both mother and baby.
open.spotify.com/episode/4SHC...
Hear how MDT care supported a favourable outcome for both mother and baby.
open.spotify.com/episode/4SHC...
September 3, 2026 at 7:51 AM
In this JIMD Shortcast, Dr Eamon McCarron presents a challenging pregnancy in a woman with lysinuric protein intolerance complicated by immune dysregulation and severe thrombocytopenia.
Hear how MDT care supported a favourable outcome for both mother and baby.
open.spotify.com/episode/4SHC...
Hear how MDT care supported a favourable outcome for both mother and baby.
open.spotify.com/episode/4SHC...
September 1, 2026 at 6:20 PM
New JIMD Reports Shortcast 🎧
Dan Ross Brooks & Fernando Scaglia discuss PNPT1-related mitochondrial disease, type I interferon activation and the potential of JAK inhibition with tofacitinib.
Listen: soundcloud.com/user-1090061...
#mitomedicine #interferonopathy
Dan Ross Brooks & Fernando Scaglia discuss PNPT1-related mitochondrial disease, type I interferon activation and the potential of JAK inhibition with tofacitinib.
Listen: soundcloud.com/user-1090061...
#mitomedicine #interferonopathy
August 31, 2026 at 9:24 AM
New JIMD Reports Shortcast 🎧
Dan Ross Brooks & Fernando Scaglia discuss PNPT1-related mitochondrial disease, type I interferon activation and the potential of JAK inhibition with tofacitinib.
Listen: soundcloud.com/user-1090061...
#mitomedicine #interferonopathy
Dan Ross Brooks & Fernando Scaglia discuss PNPT1-related mitochondrial disease, type I interferon activation and the potential of JAK inhibition with tofacitinib.
Listen: soundcloud.com/user-1090061...
#mitomedicine #interferonopathy
Lysosomal disorders are more than diseases of substrate storage.
McCarron et al. identify 108 disorders across 11 pathomechanistic categories offering a biologically informed framework for diagnosis, genomic interpretation and mechanism-based therapy.
doi.org/10.1002/jimd...
McCarron et al. identify 108 disorders across 11 pathomechanistic categories offering a biologically informed framework for diagnosis, genomic interpretation and mechanism-based therapy.
doi.org/10.1002/jimd...
August 27, 2026 at 11:02 AM
Lysosomal disorders are more than diseases of substrate storage.
McCarron et al. identify 108 disorders across 11 pathomechanistic categories offering a biologically informed framework for diagnosis, genomic interpretation and mechanism-based therapy.
doi.org/10.1002/jimd...
McCarron et al. identify 108 disorders across 11 pathomechanistic categories offering a biologically informed framework for diagnosis, genomic interpretation and mechanism-based therapy.
doi.org/10.1002/jimd...