Genomics at the
Forefront of Health and Medicine
Zenaida V. Magbanua, PhD Deputy Executive Director Philippine Genome Center ECONOMIC OPPORTUNITIES IN GENOMICS WORKSHOP
November 12, 2016
National Institute of Molecular Biology and Biotechnology Building University of the Philippines Diliman
Quezon City, Philippines
Science says a poo transplant through the nose works better than antibiotics.
It treated 85 percent of cases of a life-threatening infection.
From Science Alert, 25 Oct 2015
http://www.sciencealert.com/science-says-a-poo-transplant-through-the-nose-works-better-than- antibiotics
From nbcnews.com
Diseases of civilization
• Diabetes
• Cardiovascular diseases
• Obesity
Low carb? High protein?
Low fat?
Mediterranean diet?
High fiber?
Gluten-free?
Food
Other environmental factors
Phenotype
Air Water
Genome
Phenotype =
Genotype + food + air + water + others + interactions
There are genes and/or genetic loci that are linked or associated with certain diseases or disorders, such that, in some cases, are
influenced by the food intake
Nutrigenomics
• branch of genomics that deals with the
effect/interaction of food with the genome
• aims to develop Personalized Nutrition to optimize benefit from food intake
• utilize food to prevent certain types of
diseases
Personalized Medicine
(Aka Precision, Individualized or Genomic Medicine)
Tailoring health care to each
person’s unique genetic makeup
Genomics is the study of the genome
Genome
is the totality of all heritable
sequences in an organism, DNA
in most cases.
Genome
64.06%
25.00%
10.94%
Genome
non-coding sequences coding sequences others
Variability (polymorphism) in the genome of individuals of the same organism
• Variability occurs in coding and non-coding regions
• Single nucleotide polymorphisms (SNPs)
• Insertions/deletions (Indel)
• Inversions
• Copy number variation (CNV)
Variability (polymorphism) in the genome of individuals of the same organism
• Variability occurs in coding and non-coding regions
• Single nucleotide polymorphisms (SNPs)
Genome Wide Association Studies (GWAS)
utilize this variability by associating the
polymorphism to specific conditions like a disease or disorder* and use them as
markers
*Heart disease, diabetes, obesity, cancer, malnutrition
Genome Wide Association Studies (GWAS)
Identify polymorphisms between the genomes of individuals with the disorder (test population) and normal (control)
Use statistics to determine which
polymorphisms are associated with
the condition markers
Question: Is coffee good or bad?
It depends whether a person is a slow or fast caffeine metabolizer
Applications of Nutrigenomics
Applications of Nutrigenomics
Slow caffeine
metabolizer (AC & CC)
Fast caffeine
metabolizer (AA)
CYP1A2 gene
Caffeine accumulation may lead to high blood pressure and
heart disease
Significantly reduced risk of heart disease
The genomic link to eating disorder
• Some genomes have propensities towards eating disorders
• Heritable
Applications of Nutrigenomics
APO E
Apolipoprotein E
E2 carriers clear dietary fats fast and need a high healthy fat diet and aerobic exercise.
May be associated with either increased and decreased risk for atherosclerosis, depending on the lifestyle.
7% frequency
E3 is the neutral allele and the normal metabolizer. Carriers need a normal
amount of healthy fat and both aerobic and non-aerobic exercise.
79% frequency
E4 allele has been implicated in atherosclerosis, Alzheimer's
disease, impaired cognitive
function, reduced hippocampal volume, HIV, faster disease
progression in multiple sclerosis, unfavorable outcome after
traumatic brain injury, ischemic cerebrovascular disease, sleep apnea, accelerated telomere shortening and reduced neurite outgrowth. It responds well to low fat diet, higher vitamin D intake and aerobic exercise.