Chitayat Syndrome: Unraveling the Genetic Threads of a Rare Disorder
Explore the role of genetic testing in diagnosing Chitayat syndrome, a rare genetic disorder, to facilitate early intervention and informed family planning.
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
Cholestasis, Progressive Familial Intrahepatic, 5: Genetics as a Guide to Understanding and Managing PFIC5
Bile acids build up and inflame the liver when mutations impair the bile salt export pump in PFIC5; pinpointing the change guides treatment and counseling.
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness: The Role of Genetic Testing in Diagnosis and Management
Biallelic MITF mutations have been reported as the cause of COMMA-D, in which coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism and deafness occur together.
Cracking the Code: Genetic Testing for Congenital Bile Acid Synthesis Defect 6
Jaundice, hepatomegaly and failure to thrive in infancy can signal CBASD6, in which faulty bile acid synthesis lets toxic intermediates damage the liver.
Cracking the Code: Genetic Testing and Congenital Disorder of Glycosylation, Type IAA
A rare subtype of congenital disorders of glycosylation, CDG-IAA disrupts how sugars attach to proteins and lipids; testing identifies carriers and guides counseling.
Comprehending Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome: The Role of Genetic Testing
COL6A2 mutations disturb proteins that maintain muscle integrity and skin elasticity, producing weakness, respiratory failure, skin changes and unusually lax joints.
Understanding Congenital Myasthenic Syndrome 20: The Role of Genetic Testing
Drooping eyelids, breathing trouble and delayed motor milestones can point to CMS20. RAPSN testing confirms the diagnosis and helps match treatment to the variant.
Cracking the Code: Understanding Congenital Myasthenic Syndrome 21 Through Genetic Testing
Reports from Iranian patients show how widely CMS21 can present. Testing confirms the RAPSN diagnosis, informs medication choices and supports genetic counseling.