Hooray for Basic Science!

With all of the commotion over health care reform these days, today’s announcement that the 2009 Nobel prize for physiology or medicine has been awarded to Elizabeth H. Blackburn, Ph.D., Carol W. Greider, Ph.D.,  and Jack W. Szostak, Ph.D., for their discovery of telomeres and the related enzyme telomerase, serves as a timely reminder of the [...]

New Genetics Clinical Support Tool in Development

From the National Coalition for Professional Education in Genetics annual meeting, Bethesda, MD.
In Fall 2010, primary care clinicians may get their first really accessible point-of-care clinical decision support tool to help with the diagnosis, treatment, and management of patients with genetic conditions. The tool, a Web site called GeneFacts, aims to provide busy clinicians with “concise, [...]

The Stuff That Novels Are Made Of

This morning, I learned in an obit that Dr. Yury Verlinsky, the man who invented pre-implantation genetic diagnosis, died in Chicago on July 16 at the age of 65.
Dr. Verlinsky was the first person to realize that an unfertilized human egg could be genetically assayed in vitro prior to fertilization and implantation by using the egg’s polar [...]

Top ten most photographically disturbing conditions seen at SPD*

from the annual meeting of the Society for Pediatric Dermatology in Philadelphia
10.    Neurofibromatosis
9.      Progressive Osseous Heteroplasia
8.      Epidermolytic Hyperkeratosis
7.     Recessive Dystrophic Epidermolysis Bullosa
6.     Junctional Epidermolysis Bullosa
5.     Hemangioma
4.     PHACE Syndrome
3.     Netherton Syndrome
2.     Fibrodysplasia Ossificans Progressiva
1.     Harlequin Ichthyosis
 
*It was really hard to rank these.
—Kerri Wachter (@knwachter on Twitter)

Rheumatoid Arthritis: Killer Disease

from the European Congress of Rheumatology, EULAR, in Copenhagen
Medical history was made yesterday with official declaration of a new cardiovascular risk factor: rheumatoid arthritis, along with two other rheumatologic disorders, ankylosing spondylitis and psoriatic arthritis.
“In our view, rheumatoid arthritis [RA], ankylosing spondylitis [AS], and psoriatic arthritis [PsA] should be seen as new cardiovascular risk factors,” said [...]

I’m a Small World After All

from the Atlantic Dermatological Conference in Baltimore
The body of the average human adult plays host to roughly zillions of microorganisms, some of which perform necessary tasks that our own bodies can’t.  Exactly who are all of these hitchikers, where are they, and what are they doing?  That’s exactly what NIH’s Human Microbiome Project is going to try [...]