wafl 5 precision medicine

What is DNA?

Deoxyribonucleic acid; the hereditary material in your body that determines traits like height, hair color, and blood type.

Where is most genetic material contained?

In chromosomes, which are tightly packed assemblies of histones and DNA.

What are histones?

Proteins found in chromatin that control the secondary structure of DNA.

What is DNA composed of?

A double-stranded series of nucleotides that encode genes.

What happens during transcription?

DNA is partially unwound and an mRNA copy of a gene is generated by an enzyme.

What happens during translation?

Ribosomes read mRNA and convert the nucleotide sequence into an amino acid sequence to form a protein.

What determines your response to an exercise bout?

Your genome, epigenome, current environment, and transcriptome all influence your response.

What is the genome?

The DNA you were born with — your unique sequence of nucleotides that encode your specific set of genes.

What is the epigenome?

How your past environment has affected the reading of your DNA through heritable chemical changes like methylation.

What is the transcriptome?

The sum of all expressed genes in your cells at a given time — the readout of gene activity.

What is precision medicine?

An approach to disease treatment and prevention that considers individual variability in genes, environment, and lifestyle.

Is precision medicine a new idea?

No. The concept of tailoring treatments to individuals dates back to Hippocrates.

What is an example of traditional precision medicine?

Checking blood type before a transfusion to match donor and recipient.

How is precision medicine used in rehabilitation?

Examples include individualized strengthening after hip arthroplasty or e-stim for spinal cord injury.

What has advanced precision medicine in recent decades?

Our understanding of the molecular basis of disease.

When was the first human genome sequenced?

In 2003; it took 13 years and cost $3 billion.

How has genome sequencing changed since 2003?

It can now be done in a day, and costs are dropping to around $100.

How many companies currently provide DNA sequencing services?

Over 35 companies offer DNA sequencing as a fee-for-service.

What is the current challenge in genomics?

Interpreting the vast amount of data, not acquiring it.

How many protein-coding genes are in the human genome?

Over 20,000.

What is the 'magnet development pipeline'?

A process of linking gene mutations to clinical outcomes through research, leading to diagnostic or therapeutic tools.

How is genomics-based medicine currently applied?

It is already realized for diseases with direct genetic origins, like cancer or inherited myopathies.

How might genomics be used in the future?

To tailor therapies even for diseases not directly caused by genes.

What role will genome sequencing play in future healthcare?

Complete genome sequencing could become a standard part of medical history for optimizing treatments.

What is an example of genomics in rehabilitation?

Research on BDNF gene polymorphisms showing differences in exercise-induced nerve regeneration.

What does BDNF stand for?

Brain Derived Neurotrophic Factor.

What is the BDNF polymorphism example?

About 30% of people have a BDNF mutation that limits exercise-induced nerve regeneration.

What is epigenetics?

The study of heritable phenotype changes that do not involve alterations in DNA sequence.

What are two main epigenetic mechanisms?

DNA methylation and histone modification.

How do epigenetic changes affect DNA?

They alter how DNA is wrapped around histones and how accessible genes are for transcription.

What is a general trend in epigenetic research?

Increased epigenetic modification is linked to negative health outcomes.

What induces epigenetic changes?

Environmental stimuli that affect physiological responses to future environmental factors.

Give examples of epigenetic links.

In utero malnutrition → adult obesity; pollution → neurodegeneration risk; active lifestyle → longevity.

What is an example of heritable epigenetic change?

Mice conditioned to fear a scent pass that fear to offspring.

What was found in the exercise and epigenetics study?

35 minutes of high-intensity exercise decreased methylation in genes for oxidative metabolism, increasing gene expression.

What did the bedrest epigenetic study show?

Nine days of bedrest increased methylation of the PGC-1α promoter, reducing oxidative metabolism and causing insulin resistance.

What is transcriptomics?

The study of mRNA levels to measure gene expression, often using RNA sequencing (RNA-seq).

What is proteomics?

The study of protein levels using mass spectrometry.

What are metabolomics and lipidomics?

The studies of metabolites and lipids within biological systems.

What is multiomics?

The integration of different omics analyses in a single study.

Why is there poor agreement between transcriptomics and proteomics?

Because protein levels and gene expression may differ depending on timing and regulation of synthesis.

What did the diabetic peripheral neuropathy study show?

Some muscle fibers thought to be atrophic were actually regenerating, suggesting regenerative therapies could aid rehab.

What are wearable sensors used for in precision medicine?

To collect detailed movement data and create movement fingerprints, or 'ethomes,' for diseases like Duchenne muscular dystrophy.

What does 'omics analysis begins as hypothesis generating' mean?

It provides insights that lead to testable hypotheses before clinical application.

What is a caution regarding epigenetic therapies?

They require extensive preclinical and clinical evaluation before use.

How will precision medicine change practice?

Clinicians will integrate omics data with patient history and diagnostics to personalize treatment.

What is the ultimate goal of precision medicine?

To use comprehensive data to identify individualized, effective treatments — finding 'needles in the haystack.'

What are some ethical issues with precision medicine?

Data privacy, accidental discovery of diseases, and exclusion from effective treatments.