Olaf A. Bodamer

Biallelic Novel SKOR2 Variants in Individuals With Cerebellar Hypoplasia and Intellectual Disability, Expanding the Phenotypic Spectrum of Valence‐Farazi Cerebellar Ataxia Syndrome

Aya Abu‐El‐Haija, Allan Bayat, Hanifenur Mancılar, Eyyüp Üçtepe et autres

The embryonic development of the cerebellum is orchestrated through a dynamic process that governs the interplay of Purkinje and granule cell populations. SKOR2 (Fussel 18) is a transcriptional co-repressor that increases SHH (sonic hedgehog) expression which is a potent signal for granule …

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Two adult sisters with untreated phenylketonuria: Strikingly discordant clinical phenotype

Didem Demirbas, Susan E. Waisbren, Olaf A. Bodamer, Christina Hung

Intellectual disability is the cardinal clinical feature of untreated phenylketonuria (PKU). Nevertheless, there are rare individuals with untreated PKU who have had normal or near normal cognition despite having never been treated. We are reporting two adult sisters with untreated PKU who …

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Scaling genomic reanalysis to unlock diagnoses and transform rare disease care

Shira Rockowitz, Wanqing Shao, Courtney French, Tina K. Truong et autres

Genomic reanalysis can identify causative variants for rare diseases as patient phenotypes evolve and gene-disease knowledge expands. Despite its diagnostic value, routine reanalysis is limited by clinician capacity, lack of patient follow-up, data silos, cost, and lack of availability of clinical data …

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Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction

Diego Cardoso Fragoso, Eiman Al-Ajmi, Agustín M. Cárdenas, Pilar Quijada-Fraile et autres

P148: Multimodal characterization of neurological symptoms in Niemann-Pick disease type C

Raquel van Gool, Merve Koç Yekedüz, Benjamin D. Goodlett, Georgina Johnson et autres

Niemann-Pick disease Type C (NPC) is a lysosomal storage disease characterized by progressive neurodegeneration and multiple neurological symptoms including, but not limited to, motor impairment, dysarthria, and cognitive dysfunction. The objective of the current study was to identify cortical, subcortical and cerebellar …

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P528: Identifying care coordination barriers and optimal support practices for families of patients with lysosomal storage disorders

Abigail Thomas, Emma Jannotta, Melinda Peters, Olaf A. Bodamer et autres

Lysosomal Storage Disorders (LSDs) are individually rare and progressive multi-system conditions often resulting in early mortality. Caregivers often face high coordination burden following their child’s diagnosis, which conflicts with existing resource-intensive socioeconomic challenges for some families. The problem lies in limited follow-up …

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P462: Reduction in healthcare resource utilization for children with neurodevelopmental disorders after exome or genome sequencing: A SAVES-Kids Study*

Colton Frazer, Paul Stephen Kruszka, Olaf A. Bodamer, Sarah Soto et autres

Neurodevelopmental disorders represent one of the most prevalent chronic medical conditions encountered in pediatric primary care. Establishing a molecular diagnosis through exome or genome sequencing (ES/GS) can enable more personalized clinical management. Although these management adjustments frequently influence healthcare resource utilization (HCRU) …

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P116: Noninvasive markers of central and musculoskeletal symptoms in infantile- and late-onset Pompe disease*

Raquel van Gool, Amanda Cao, Georgina Johnson, Hanne van der Heijden et autres

median [range] annualized eGFR slope -1.77 [-21.2, 4.2] mL/min/1.73m 2 /year) and low plasma globotriaosylsphingosine (lyso-Gb3) levels were maintained without re-accumulation.The proportion of ADA-positive participants remained consistent from baseline to the last visit (24.7%).Conclusion: These findings demonstrate that long-term treatment with pegunigalsidase …

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P471: Reduction in healthcare costs for children with epilepsy following exome or genome sequencing: A SAVES-Kids Study

Colton Frazer, Olaf A. Bodamer, Sarah Soto, Krystal Brown et autres

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Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction

Diego Cardoso Fragoso, Eiman Al‐Ajmi, Agustín M. Cárdenas, Pilar Quijada‐Fraile et autres

BACKGROUND AND PURPOSE: Imaging characteristics of the secondary urea cycle disorder caused by carbonic anhydrase VA (CA-VA) deficiency remain poorly understood. This study aimed to evaluate the neuroimaging features associated with CA-VA deficiency through a collaborative multicenter investigation. MATERIALS AND METHODS: variants …

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The PKU Patient Registry: Development of a patient-driven registry and initial outcomes

Lauren Youngborg, Christine Brown, Eileen Blakely, Olaf A. Bodamer et autres

A patient registry facilitates collection of data on a group of patients with similar conditions. While some registries collect clinician-input data, patient-entered registries prioritize the perspective of patients and families. To better support research for phenylketonuria (PKU), National PKU Alliance (NPKUA) launched …

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Bi-allelic variants in TM2D3 cause a severe syndromic neurodevelopmental disorder associated with endoplasmic reticulum and mitochondrial abnormalities

Claudie Gabillard-Lefort, Caroline Silveira Martinez, Naïg Guéguen, Valérie Desquiret‐Dumas et autres

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