ADID-CACD Syndrome: Signs, Genes and Diagnosis
Intellectual disability, distinctive facial features and heart defects together define ADID-CACD. DNA testing separates it from syndromes that look similar.
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
ADNSHL40 and What Early Genetic Testing Can Detect
One altered copy of a gene is enough to cause ADNSHL40, hearing impairment with no other symptoms. Results can guide hearing aids, implants and other therapies.
Analyzing Autosomal Dominant Nonsyndromic Hearing Loss 67: Genetic Testing's Role in Understanding and Managing This Condition
Hearing impairment without syndromic features defines ADNSHL 67, linked to a CEACAM16 missense variant. Not every variant has clear clinical significance.
Robinow Syndrome 2: DVL1 Mutations and Skeletal Signs
Short stature, brachydactyly and craniofacial dysmorphism arise when DVL1 mutations disturb Wnt signaling. An early ADRS2 diagnosis opens growth therapies.
Advancements in Autosomal Recessive Nonsyndromic Hearing Loss 104: The Role of Genetic Testing
Newborn screening programs can include tests for the PKHD1L1 mutations behind ARNSHL 104, so hearing aids or cochlear implants can be considered early in life.
Addressing Autosomal Recessive Spinocerebellar Ataxia 20: The Role of Genetic Testing
SNX14 mutations, inherited in a recessive pattern, sit behind the coordination, balance and speech difficulties that ARSCA20 brings on in childhood.
Breaking Through the Mystery: Understanding Basal Ganglia Calcification, Idiopathic, 6
Part of the primary familial brain calcification group, IBGC6 is studied through genes such as SLC20A2, PDGFRB and PDGFB that testing can check before symptoms appear.
BENTA Disease: CARD11 Mutations and B Cell Growth
Overactive NF-κB signaling from CARD11 mutations drives B cell expansion and T cell anergy, leaving patients with recurrent infections and autoimmune problems.