Hartsfield-Bixler-Demyer Syndrome: Genetic Diagnosis
Holoprosencephaly, ectrodactyly and craniofacial anomalies overlap with other syndromes; DNA analysis separates HBDS and clarifies the inheritance pattern.
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
Hemochromatosis Type 5: Unraveling the Genetic Threads of Iron Overload
Fatigue, joint pain and in severe cases organ failure can follow the iron buildup seen with TFR2 mutations; phlebotomy, chelation and relative screening are explained.
Understanding Hereditary Sclerosing Poikiloderma with Tendon and Pulmonary Involvement: A Genetic Perspective
Pigment change, atrophy and telangiectasia appear with skin hardening, tendon contractures and lung problems; testing separates HSPTPI from other sclerosing disorders.
Hereditary Sensory and Autonomic Neuropathy Type 7 Symptoms
Insensitivity to pain, muscular hypotonia and digestive problems mark HSAN7, while cognitive development stays normal. DNA analysis can identify the mutations behind it.
Hereditary Spastic Paraplegia 57: COQ7 and Mitochondria
Low COQ7 protein limits coenzyme Q10 supply to mitochondria in HSP57. Testing separates it from similar disorders and opens discussion of coenzyme Q10 supplements.
Hereditary Spastic Paraplegia 61: Symptoms and Management
Walking becomes harder as HSP 61 progresses. A COQ7 variant has been linked to the disorder, and care ranges from physical therapy to medicines and assistive devices.
Hereditary Spastic Paraplegia 62: Genes and Family Planning
Signals from the spinal cord to the legs weaken in HSP62, traced to a homozygous COQ7 variant. Testing also supports prenatal diagnosis and preimplantation options.
Understanding Hereditary Spastic Paraplegia 63: A Genetic Perspective
SPAST helps keep nerve cells structured, and mutations in it are the main cause of HSP63; a study in Bashkortostan identified such a change in autosomal dominant cases.