Wading Through the Complexities of Warburg Micro Syndrome 2: The Role of Genetic Testing
Cataracts, microcephaly and developmental delay often mark Warburg Micro Syndrome 2, a rare disorder that genetic testing can help diagnose early.
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
Warburg Micro Syndrome 3: Unraveling the Genetic Mysteries
Linked to the RAB18 gene, WMS3 brings microcephaly, developmental delay and ocular abnormalities; the page covers testing, genetic variability and counseling.
Wolfram-like Syndrome: WFS1 Variants and Deafness
De novo WFS1 variants have been identified in Wolfram-like syndrome, which resembles Wolfram syndrome but often presents with congenital deafness as a key feature.
Understanding 46,XY Sex Reversal 6: The Role of Genetic Testing in Diagnosis and Management
The c.226C>A; p.Arg76Ser change in SRY interferes with nuclear transport and male differentiation, and sequencing the gene separates it from similar conditions.
Acetyl-CoA: Carboxylase Deficiency: Unraveling the Genetic Code for Better Management
Uncover how genetic testing enhances diagnosis, treatment, and family planning for Acetyl-CoA: carboxylase deficiency. Transform patient care with these insights.
Achromatopsia 4: Unlocking the Genetic Mysteries Behind Color Blindness
Absent color vision with photophobia, nystagmus and reduced acuity defines Achromatopsia 4; whole exome sequencing in one family pointed to PDZD7 and PDE6C variants.
Familial Acne Inversa 2: Diagnosis and Family Planning
Inherited hidradenitis suppurativa can be confirmed by DNA analysis when symptoms overlap other skin disorders, and counseling covers the chance of passing it on.
Acne Inversa, Familial, 3: Recurring Nodules and Genes
Stigma and overlapping symptoms leave many cases undiagnosed; naming a familial mutation separates this condition from similar skin disorders and allows earlier care.