HNAR2: Inherited Hydrocephalus and Carrier Testing
Both parents must carry the altered gene for a child to have HNAR2, in which cerebrospinal fluid collects in the ventricles. Carrier testing and early care are covered.
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
Heralding Hope: Genetic Testing for Hypogonadotropic Hypogonadism 17 with or without Anosmia
Puberty may never arrive and odors may go unnoticed when FGFR1 mutations disrupt HH17; the page explains how finding them times therapy.
Hypogonadotropic Hypogonadism 18: Genetic Testing's Role in Diagnosis and Management
GnRH deficiency underlies this disorder, whose presentation varies with or without anosmia. Novel FGFR1 mutations in Indian patients show what testing clarifies.
Hypogonadotropic Hypogonadism 19 vs Delayed Puberty
Delayed puberty may signal congenital hypogonadotropic hypogonadism or a self-limited delay. Gene findings separate the two and shape hormone therapy.
Harnessing the Power of Genetic Testing in Hypogonadotropic Hypogonadism 20 with or without Anosmia
Disruption of the hypothalamic-pituitary-gonadal axis leaves sex hormones low, sometimes with anosmia. SOX10 mutations and what a DNA result adds are explained.
Harnessing Genetic Testing in Hypogonadotropic Hypogonadism 21 with or without Anosmia
When anosmia accompanies gonadotropin deficiency, the picture overlaps Kallmann syndrome. A reported SOX10 case of reversal shows what mutation testing can add.
Harnessing the Power of Genetic Testing for Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Reduced sweating, defective enamel, thickened palms and soles and intellectual disability mark this rare inherited syndrome, often missed early on.
Hope in Hypomyelination: Genetic Testing's Role in Diagnosing and Managing HBSL
Leg spasticity, delayed motor development and brain stem and spinal cord changes trace to DARS1. MRI shows hypomyelination and gene testing names the cause.