IHPRF: Infantile Hypotonia, Delays and Genetic Testing
Infants with IHPRF have reduced muscle tone, delayed motor skills and distinctive facial features; DNA analysis can identify variants such as TBCK and confirm it.
Brandon Colby, MD
MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
About Brandon
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Education
- BA in Genetics with Honors, University of Michigan · 2000
- MD, Mount Sinai School of Medicine · 2004
- MBA, Stanford University Graduate School of Business · 2007
Affiliations & Memberships
- Affiliate Specialist, American College of Medical Genetics and Genomics (ACMG)
- Associate, American College of Preventive Medicine (ACPM)
- Member, National Society of Genetic Counselors (NSGC)
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.
Articles by Brandon
Hereditary Hints: Genetic Testing and Hypotrichosis 11
Unlike alopecia, Hypotrichosis 11 involves hair that never fully develops; the page covers the follicle proteins affected, carrier testing and counseling issues.
Inclusion Body Myopathy With Early-Onset Paget Disease: VCP
VCP mutations produce a mix of muscle weakness, Paget's disease of bone and frontotemporal dementia, so predictive testing can clarify risk for relatives.
Inclusion Body Myopathy with Early-Onset Paget Disease: Genetic Testing Insights
Even within one family, VCP mutations bring different combinations of muscle weakness, bone changes and dementia, which is why confirming the mutation matters.
Illuminating Infantile Hypertrophic Cardiomyopathy: Understanding MRPL44 Deficiency
MRPL44 mutations impair mitochondrial protein synthesis, thickening the heart muscle in infancy alongside liver dysfunction, muscle weakness and exercise intolerance.
Insight into Intellectual Disability, Autosomal Dominant 24: Harnessing Genetic Testing
A missense variant in PPP2R5D has been linked to this rare neurodevelopmental disorder, and identifying it supports early intervention and personalized care.
Illuminating Isolated Microphthalmia 8: The Role of Genetic Testing
PAX6 variants sit behind this form of microphthalmia (IM8), usually noted at birth or in early childhood; testing informs treatment planning and family counseling.
Leber Congenital Amaurosis 17: Illuminating the Path with Genetic Testing
Severe retinal dystrophy shows up in infancy in an autosomal recessive pattern; a Chilean study traced 62.7% of cases to four variants in three genes.