Patient’s Whole Genome Reveals Risk of Diseases and Adverse Drug Responses

Scientists at Stanford and Harvard Universities collaborated to assess the clinical usefulness of analyzing a patient’s full genome for disease risks and unusual drug responses. The work brings closer to reality the concept that whole-genome sequencing might one day play a clinical role.

The analysis, which was supported by the National Institutes of Health (NIH), appears in the May 1, 2010 issue of Lancet.

The authors evaluated the entire genome of a 40-year old man and compared it to several databases of disease-related gene variants. They also factored in the patient’s medical and family history and statistical disease risks. As part of the work, the researchers provided the patient with genetic counseling and clinical tests relevant to his family history.

The genome analysis revealed variants associated with diseases in the man’s family (osteoarthritis, vascular disease and early sudden death). It also uncovered variants linked to conditions not in his family (iron overload and thyroid and parathyroid diseases). Some variants suggested that he might have unusual responses to certain heart medications, which is meaningful in light of his risk for cardiovascular disorders.

Scientists Find New Form of Prion Disease that Damages Brain Arteries

National Institutes of Health (NIH) scientists investigating how prion diseases destroy the brain have observed a new form of the disease in mice that does not cause the sponge-like brain deterioration typically seen in prion diseases. Instead, it resembles a form of human Alzheimer’s disease, cerebral amyloid angiopathy, that damages brain arteries.

NIH Newsbot Note: Cerebral amyloid angiopathy (CAA) is a neurological condition in which amyloid protein builds up on the walls of the arteries in the brain. The condition increases an individual’s risk of stroke, brain hemorrhage or dementia. There is no known effective treatment.
Cerebral amyloid angiopathy

The study results, reported by NIH scientists at the National Institute of Allergy and Infectious Diseases (NIAID), are similar to findings from two newly reported human cases of the prion disease Gerstmann-Straussler-Scheinker syndrome (GSS). This finding represents a new mechanism of prion disease brain damage, according to study author Bruce Chesebro, M.D., chief of the Laboratory of Persistent Viral Diseases at NIAID’s Rocky Mountain Laboratories.

Prion diseases, also known as transmissible spongiform encephalopathies, primarily damage the brain. Prion diseases include mad cow disease or bovine spongiform encephalopathy in cattle; scrapie in sheep; sporadic Creutzfeldt-Jakob disease (CJD), variant CJD and GSS in humans; and chronic wasting disease in deer, elk and moose.

The role of a specific cell anchor for prion protein is at the crux of the NIAID study. Normal prion protein uses a specific molecule, glycophosphoinositol (GPI), to fasten to host cells in the brain and other organs. In their study, the NIAID scientists genetically removed the GPI anchor from study mice, preventing the prion protein from fastening to cells and thereby enabling it to diffuse freely in the fluid outside the cells.

The scientists then exposed those mice to infectious scrapie and observed them for up to 500 days to see if they became sick. The researchers documented signs typical of prion disease including weight loss, lack of grooming, gait abnormalities and inactivity. But when they examined the brain tissue, they did not observe the sponge-like holes in and around nerve cells typical of prion disease. Instead, the brains contained large accumulations of prion protein plaques trapped outside blood vessels in a disease process known as cerebral amyloid angiopathy, which damages arteries, veins and capillaries in the brain. In addition, the normal pathway by which fluid drains from the brain appeared to be blocked.

Their study, Dr. Chesebro says, indicates that prion diseases can be divided into two groups:

  • those with plaques that destroy brain blood vessels
  • those without plaques that lead to the sponge-like damage to nerve cells

Dr. Chesebro says the presence or absence of the prion protein anchor appears to determine which form of disease develops.

The new mouse model used in the study and the two new human GSS cases, which also lack the usual prion protein cell anchor, are the first to show that in prion diseases, the plaque-associated damage to blood vessels can occur without the sponge-like damage to the brain. If scientists can find an inhibitor for the new form of prion disease, they might be able to use the same inhibitor to treat similar types of damage in Alzheimer’s disease, Dr. Chesebro says.

Source: NIH News

The Best of Highlight HEALTH 2009 – The Year in Review

Three years and going strong!

This month, Highlight HEALTH celebrates its third year promoting advances in biomedical research to encourage health literacy. We’re also excited to introduce the NIH Newsbot, which will help us to keep you up-to-date with the latest research news from the National Institutes of Health (NIH).


The Highlight HEALTH Network consists of three web sites:

Each of these sites has a different purpose. Here at Highlight HEALTH, we focus on evidence-based biomedical research to educate readers and empower patients (if you’re interested in contributing, please let us know). Highlight HEALTH 2.0, a group effort, follows the use of Web 2.0 in health and medicine. Lastly, the Highlight HEALTH Web Directory is an online reference guide for reliable health and medical information.

There are a number of ways to connect with the Highlight HEALTH Network, including email or RSS feed, Twitter, FriendFeed and Facebook. If you have an internet-enabled cell phone, Highlight HEALTH can also be accessed via the mobile web.

Most popular articles for 2009

We’ve calculated the most popular articles for 2009 using two measures, either by the highest number of page views for the year (shown in red) or by the average number of page views (shown in white and calculated as the number of page views/number of days posted).


Top 10 articles by page view

  1. Lack of Sleep Increases Susceptibility to the Common Cold
    (article #4; 10,679 page views)
  2. H1N1 Vaccine Study Summaries: Single Dose Provides Protection
    (article #42; 10,232 page views)
  3. Lifetime Immunity From the Flu
    (article #10; 8,611 page views)
  4. Brain Toniq Review: The Science Behind the Think Drink
    (article #17; 8,458 page views)
  5. What You Need to Know About the H1N1 Vaccine
    (article #47; 8,053 page views)
  6. Cancer Research Blog Carnival #21 – National Cancer Research Month
    (article #21; 8,036 page views)
  7. Clearing Up Concerns Over Vicks VapoRub
    (article #6; 7,914 page views)
  8. New Genes Associated with Blood Pressure and Hypertension
    (article #25; 7,638 page views)
  9. Read Highlight HEALTH In Your Inbox
    (article #3; 7,384 page views)

Top 20 articles by average page views/day

  1. H1N1 Vaccine Study Summaries: Single Dose Provides Protection
    (article #42; average: 96 page views/day)
  2. What You Need to Know About the H1N1 Vaccine
    (article #47; average: 88 page views/day)
  3. Finding Credible Health Information Online: MedLibs Round 1.8
    (article #54; average: 55 page views/day)
  4. Chromosome Telomeres and the Nobel Prize for Medicine
    (article #48; average: 54 page views/day)
  5. Details of Critically Ill Patients with H1N1 in Mexico and Canada
    (article #50; average: 53 page views/day)
  6. Rehabilitation at Home Just as Good as Day Hospital Care
    (article #43; average: 47 page views/day)
  7. Medpedia Now Includes News & Analysis, Alerts, Q&A
    (article #58; average: 42 page views/day)
  8. Safety and Distribution of the H1N1 Influenza Vaccine
    (article #53; average: 42 page views/day)
  9. Book Review: The SharpBrains Guide to Brain Fitness
    (article #49; average: 41 page views/day)
  10. Health Highlights – October 30th, 2009
    (article #51; average: 37 page views/day)
  11. The Review Is In: Lifestyle Changes Prevent Breast Cancer
    (article #46; average: 36 page views/day)
  12. Physician Failure to Report Abnormal Test Results to Patients
    (article #32; average: 36 page views/day)
  13. New Genes Associated with Blood Pressure and Hypertension
    (article #25; average: 35 page views/day)
  14. Metabolic Discoveries Hidden In Our Genomes
    (article #39; average: 35 page views/day)
  15. The Spectrum Health Value Study: Insured vs. Uninsured
    (article #36; average: 33 page views/day)
  16. Cancer Research Blog Carnival #21 – National Cancer Research Month
    (article #21; average: 33 page views/day)
  17. Need For Less Sleep Associated with Gene Mutation
    (article #40; average: 33 page views/day)
  18. NIH to Hold Conference on Family History
    (article #38; average: 33 page views/day)
  19. Medpedia: Reliable Crowdsourcing of Health and Medical Information
    (article #34; average: 32 page views/day)
  20. Brain Toniq Review: The Science Behind the Think Drink
    (article #17; average: 32 page views/day)

Thanks for reading and Best of Health in the coming year!