Severe Neurodegenerative Syndrome with Lipodystrophy (SNSL)
Progressive loss of motor and cognitive skills comes with abnormal fat distribution, an enlarged liver and high triglycerides in this rare inherited syndrome.
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
Short Stature Due to Growth Hormone Secretagogue Receptor Deficiency: Decoding the Genetic Puzzle
When the body cannot respond to growth hormone secretagogues, growth slows; research in Egyptian patients links short stature to GH1, GHSR and GHRHR variants.
Short Stature and Primary Acid-Labile Subunit Deficiency: Genetic Testing's Role in Diagnosis and Management
Loss of the acid-labile subunit destabilizes the IGF-1 complex and slows growth; IGFALS sequencing separates primary ALS deficiency from other causes of short stature.
Spinocerebellar Ataxia Type 37: Genetic Testing's Role in Understanding and Managing the Disease
Speech problems, unsteady walking and fine motor trouble typically begin in adulthood with SCA37; a genetic result confirms it and clarifies inheritance.
Spinocerebellar Ataxia Type 38: Shedding Light on Genetic Testing
How fast SCA38 progresses varies widely between individuals; early DNA testing can identify the mutation, while cost and access remain practical barriers.
Spinocerebellar Ataxia Type 40: Navigating the Genetic Maze
Adult-onset gait disturbance with speech and eye movement problems characterizes SCA40; a precise genetic result separates it from other spinocerebellar ataxias.
STAT3-Related Early-Onset Multisystem Autoimmune Disease: Unraveling the Genetic Threads of a Complex Condition
Recurrent infections, skin abnormalities and inflammation across several organs begin early in life when STAT3 mutations disturb immune regulation in SR-EMAD.
STING-Associated Vasculopathy with Onset in Infancy: The Crucial Role of Genetic Testing
When severe skin lesions and recurrent fevers begin in the first months of life, TMEM173 testing can confirm SAVI and separate it from other inflammatory disorders.