MPS VI, Severe Form: ARSB Testing, ERT and Transplant
Galsulfase infusions and stem cell transplantation are the options described once ARSB testing confirms the arylsulfatase B deficiency behind MPS VI symptoms.
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
Unlocking the Mysteries of Multiple Myeloma: Resistance, Diagnosis, and Genetic Testing
Genetic and epigenetic changes, drug transport and the tumor microenvironment all feed resistance in multiple myeloma; FISH, karyotyping and NGS are explained.
Unraveling the Mysteries of Muscular Dystrophy-Dystroglycanopathy Type B, 5
Caused by FKRP mutations and inherited in an autosomal recessive pattern, MDDGB5 brings muscle weakness, joint contractures, respiratory and heart problems.
Decoding the Enigma of Acetazolamide-Responsive Myotonia Congenita
Symptoms in this rare variant improve with acetazolamide, and CLCN1 gene testing can confirm the diagnosis and pick out carriers within a family.
Axonal Neuropathy with Vocal Cord Paresis: GDAP1 Testing
Mutations in GDAP1 impair mitochondrial function in peripheral nerves, bringing muscle weakness, sensory loss and partial vocal cord paralysis.
Unlocking the Mysteries of Severe Hereditary Sensory and Autonomic Neuropathy Type IC
Abnormal sweating, cardiovascular instability and joint deformities accompany sensory loss in HSAN IC, and KIF1A sequencing gives a definitive diagnosis.
Unlocking the Mysteries of Niemann-Pick Disease, Type C1: Diagnosis, Understanding, and Genetic Testing
Cholesterol that cells cannot clear brings neurological decline and enlarged liver and spleen; DNA analysis diagnoses NPC1 when biochemical tests are unclear.
Unlocking the Mysteries of Niemann-Pick Disease, Type C1: Understanding, Diagnosing, and Utilizing Genetic Testing
Children and adolescents with this form face movement difficulty and progressive neurological decline; NPC1 testing confirms cases and flags at-risk siblings.