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- General Strategies in Biomarker Research
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1. The proteomic revolution
- Dr. Larry Gold
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2. Lipid biomarkers: lipidomics of the macrophage and plasma lipidomes
- Prof. Edward A. Dennis
- New Tools for Biomarker Research
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5. Development of glyco-biomarkers using glycoproteomics technologies
- Dr. Hisashi Narimatsu
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6. Circulating nucleic acids as biomarkers in cancer patients
- Prof. Klaus Pantel
- Specific Disease Applications
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7. Biomarkers in breast cancer
- Prof. Joe Duffy
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8. Bacterial biomarkers
- Dr. Christiane Honisch
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9. Diabetes biomarkers
- Prof. Naveed Sattar
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10. Gene networks, brain networks: understanding schizophrenia
- Dr. Daniel Weinberger
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11. Biomarkers for Huntington's disease - promises and challenges
- Prof. Sarah Tabrizi
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12. Update on fluid biomarkers for neurodegenerative diseases
- Prof. Henrik Zetterberg
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13. Biomarkers in osteoarthritis
- Dr. Ali Mobasheri
- Biomarkers in Drug Discovery and Delivery
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14. Pharmacogenomics: emphasis on clinical drug development
- Dr. Amelia Warner
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15. Biomarkers in drug development: potential use and challenges
- Dr. Abdel-Bassett Halim
- Biomarkers in development, nutrition, and health
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18. Ethnic differences in nutrition
- Prof. Jose Ordovas
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19. Non-invasive prenatal diagnostics
- Prof. Y. M. Dennis Lo
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20. Epigenetic biomarkers in cancer
- Prof. Bob Brown
- Archived Lectures *These may not cover the latest advances in the field
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21. Biomarkers for Alzheimer's disease
- Prof. Henrik Zetterberg
Printable Handouts
Navigable Slide Index
- Introduction
- Non-invasive prenatal diagnosis
- Discovery of circulating nucleic acids
- Landmark developments
- Tumor-associated microsatellite alterations
- Placenta as a pseudomalignant tissue
- Presence of fetal DNA in maternal plasma
- Demonstration of fetal DNA in maternal plasma
- A rise in fetal DNA as pregnancy progresses
- Fractional concentration
- Rapid fetal DNA clearance
- Clinical applications
- Down syndrome
- Fetal DNA constitute a minority of the DNA
- Targeting fetal-specific nucleic acids
- Using PLAC4 gene to diagnose trisomy 21 fetus
- CpG methylation
- A general approach
- 1000 genome-equivalents/Ml
- Prenatal diagnosis by single molecule counting
- Next-generation DNA sequencing
- DNA genomic sequencing in maternal plasma (1)
- DNA genomic sequencing in maternal plasma (2)
- DNA genomic sequencing in maternal plasma (3)
- Down syndrome detection (1)
- Down syndrome detection (2)
- Fetal sex detection
- The precision for chromosome presentation
- Large scale validation
- Large scale study
- 8-plex sequencing protocol
- 2-plex sequencing protocol
- An example of another study using former method
- Latest generation of sequencers
- Conventional screening in Honk Kong
- Trisomy 13/18 detection (1)
- Trisomy 13/18 detection (2)
- Trisomy 18 (1)
- Trisomy 13 (1)
- Why is Trisomy 13/18 detection a problem?
- GC content bias
- Can we do better?
- Possible strategies
- Increase the aligned reads
- Trisomy 18 (2)
- Trisomy 13 (2)
- Reduce the GC effect
- Locally weighted scatter plot smoothing
- Before and after GC correction
- Trisomy 18 (3)
- Trisomy 13 (3)
- Why has Trisomy 13/18 detection improved?
- The coefficient of variation plot
- Summary of Trisomy detection
- How far can we push this technology?
- This is a technically challenging technology
- Fetal genome inherited from mother and father (1)
- Fetal genome inherited from mother and father (2)
- Hunting the fetal genome inside the mother
- Hunting the paternal genome (1)
- Hunting the paternal genome (2)
- Detection of maternal half of the fetal genome (1)
- Detection of maternal half of the fetal genome (2)
- Hunting and assembling millions of pieces
- Does this work?
- Clinical case
- Genetic maps
- The sequencing (1)
- The sequencing (2)
- Sequencing results (1)
- Sequencing results (2)
- The sequence & non-invasive prenatal diagnosis
- The beta-globin gene
- Paternal mutation in the beta-globin gene
- Paternally inherited mutation detection
- Maternal mutation in the beta-globin gene (1)
- Maternal mutation in the beta-globin gene (2)
- Relative haplotype dosage (RHDO) analysis (1)
- Sequential probability ratio test (SPRT)
- Relative haplotype dosage (RHDO) analysis (2)
- Fetus is a carrier of beta-thalassemia
- Targeted sequencing
- Target enrichment (1)
- Target enrichment (2)
- Target enrichment (3)
- Fetal DNA proportion vs. genome enrichment level
- Targeted sequencing implications (1)
- Biology of plasma DNA
- Paired end sequencing
- Size analysis
- Targeted sequencing implications (2)
- Conclusions
- Acknowledgements (1)
- Acknowledgements (2)
- Thank you
Topics Covered
- Overview of plasma nucleic acids
- Discovery and basic biology of circulating fetal DNA
- T21 detection from maternal plasma
- T13/18 detection from maternal plasma
- Fetal genome scanning
- Targeted sequencing from maternal plasma
- Size analysis of plasma DNA
Links
Series:
Categories:
Therapeutic Areas:
Talk Citation
Lo, Y.M.D. (2012, September 27). Non-invasive prenatal diagnostics [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved December 8, 2024, from https://doi.org/10.69645/OIEF6179.Export Citation (RIS)
Publication History
Financial Disclosures
- Prof. Y. M. Dennis Lo, Consultant: Sequenom ; Grant/Research Support (Principal Investigator): Sequenom ; Stock Shareholder (Self-managed): Sequenom ; Licensing agreement: Sequenom
A selection of talks on Genetics & Epigenetics
Transcript
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0:00
I would like to talk about non-invasive prenatal diagnosis.
0:07
Prenatal diagnosis is now an established part of modern obstetric care.
However, conventional methods for
definitive prenatal diagnosis are invasive and constitute a finite risk to the fetus.
For this reason, over the last 40 years
many scientists around the world have been
researching the use of non-invasive prenatal diagnosis.
Today, I'd like to review with you one possible approach that is
based on the use of cell-free nucleic acids which are present in the plasma.
0:43
The discovery of circulating nucleic acids can be
traced back to a couple of French scientists in 1947,
who used a chemical method to demonstrate the presence
of nucleic acids in the plasma of healthy and sick individuals.
This work was remarkable, because this was done even before
the seminal work by Watson and Crick, who
demonstrated the double helix structure of DNA in 1953.
In a way we can imagine that the French scientists were
very much ahead of their time, because you can imagine that in the 40s
if you had told people that there were nucleic acids circulating in the plasma,
people would most likely ignore you.
Indeed, this is what happened.
The work of Mandel and Metais was forgotten for more than the next ten years
1:36
until the 1960s,
when people used immunoassays to demonstrate the presence of
large quantities of DNA in the serum of people with systemic lupus.
In the 70s scientists showed that in patients with cancers
there is always a high concentration of DNA in the serum,
but the origin of this DNA remained unknown until 1989, when Maurice Stroun from Switzerland proposed that
maybe some of these DNA molecules were released by the cancer cells.
Definitive proof had to wait until '94, when scientists used
PCR-based methods to show that tumor-derived
oncogene mutations could be detected in the plasma and serum.