Email

daniel.calame@bcm.edu

Positions

Instructor

Pediatrics
Pediatric Neurology and Developmental Neurosciences
Baylor College of Medicine
Houston, TX US

Honors & Awards

MDA Development Award

Muscular Dystrophy Association

Chao Physician Scientist Award

Baylor College of Medicine

CNCDP-K12

NINDS, Kennedy-Krieger Institute

Professional Interests

• Neurogenetics
• Neuromuscular disease
• Neuroimmunology
• Cerebral palsy
• Neurodevelopmental disorders
• Hereditary spastic paraplegia

Professional Statement

Despite advances in genome-wide technologies including exome sequencing, short-read whole genome sequencing, and array comparative genomic hybridization, diagnostic genetic testing fails to deliver a definitive diagnosis to most patients with rare neurogenetic diseases including muscular dystrophies, neuropathies, epilepsy, cerebral palsy, and neurodevelopmental disorders. In both my clinical practice and my research in Jim Lupski's lab as part of the Baylor College of Medicine Genomics Research Elucidates the Genetics of Rare disease (BCM-GREGoR) program I am fully committed to ‘solving the unsolved’ – to find genetic answers and end the diagnostic odyssey for patients and families with rare diseases. In addition, I am interested in better characterization of the phenotypic spectrum and natural history of rare diseases to improve anticipatory guidance and prognostication and develop clinical trials readiness.

Selected Publications

• Calame DG, Bakhtiari S, et al. "Biallelic loss-of-function variants in the splicing regulator NSRP1 cause a severe neurodevelopmental disorder with spastic cerebral palsy and epilepsy." Genet Med. 2021;23(12)(12):2455-2460. Pubmed PMID: 34385670
• Calame DG, Herman I, et al "Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia." Ann Neurol. 2022;92(2):304-321. Pubmed PMID: 35471564
• Daniel G Calame, Tianyu Guo , Chen Wang, et al. "Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease." Am J Hum Genet. 2023 Aug 3;110(8):1394-1413. Pubmed PMID: 37467750
• Brown et al. "TLR7 gain-of-function genetic variation causes human lupus." Nature. 2022;605(7909):349-356. Pubmed PMID: 35477763

Memberships

Child Neurology Society

American Academy of Neurology

American Academy of Pediatrics

Alpha Omega Alpha