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Glenn Nichols, surrounded by his hospice team. The author is in yellow.

Genetic Linkage

Precision Medicine: Much More Than Just Genetics

September 25, 2015

Tags: Precision Medicine Initiative Cohort Program

When President Obama uttered the words ďPrecision MedicineĒ in the state-of-the-union address, I scoffed at a politicianís finally noticing a field thatís been around for decades: medical genetics. Was it another case of rebranding, as chemistry has morphed into nanotech? But the definition of Precision Medicine that has emerged is, well, precise: ďAn approach to disease treatment and prevention that seeks to maximize effectiveness by taking into account individual variability in genes, environment, and lifestyle.Ē (more…)

Tess's Tale: Social Media Catalyzes Rare Disease Diagnosis

September 17, 2015

Tags: rare diseases, Baylor College of Medicine, Tess Bigelow, Undiagnosed Diseases Network, NORD

Tess Bigelow
Attention to the plight of families with rare diseases continues to grow this week, providing a backdrop to another compelling tale of a family seeking a diagnosis for mysterious symptoms.

THE UNDIAGNOSED DISEASES NETWORK
The National Human Genome Research Instituteís Undiagnosed Diseases Network (UDN) just announced the UDN Gateway. This online application portal will guide patients to a growing national network of clinical sites, including six new ones and two genome sequencing centers. The Gateway replaces paper-based application to specific clinical centers for the few coveted slots. (more…)

Targeting Cancer: A Basketful of Hope

September 14, 2015

Tags: cancer, precision medicine, basket study, Josť Baselga, melanoma, MATCH, BRAF, The Cancer Genome Atlas, Zelboraf

Basket studies allow researchers to evaluate considering a cancer's mutations in choosing treatment. (NHGRI)
Targeted treatments for cancer have been extending and saving lives for more than 15 years ó precision medicine isnít a new idea in oncology. Now drugs pioneered on select, specific cancers are, one by one, finding new applications.

The first wave of targeted drug approvals were for cancers associated with specific mutations. Herceptin (traztuzumab) led the way, approved in 1998. Itís a monoclonal antibody deployed against the HER2/neu receptor that is overabundant in some aggressive and early-onset breast cancers. Robert Bazellís excellent book Her 2 tells the tale.

In 2001 came the blockbuster Gleevec (imatinib), a small molecule tyrosine kinase inhibitor that intercepts signals to divide. Erin Zammettís My So-Called Normal Life with Cancer relates that story. A very young editor at Glamour magazine when a routine check-up revealed chronic myelogenous leukemia, Erinís recovery was one of the first of thousands thanks to this now famous drug. (more…)

instruction
Project to engage students in helping families with rare genetic diseases
Book Club Reader's Guide
Many challenging questions to stimulate thought and discussion.
Instructor's Guide
38 discussion questions to get students thinking and talking about gene therapy, including the science, ethical issues, and the drug approval process.
Narrative science
The Forever Fix is the uplifting true story of 8-year-old Corey Haas, who was cured of hereditary blindness just 4 days after gene therapy.
College Textbooks
A spectacularly-illustrated, clearly written human anatomy and physiology textbook, used in pre-health profession programs throughout the U.S.
A highly engaging, clearly written, beautifully illustrated introduction to the science of human genetics for the non-scientist. Now in its 11th edition, 12th to be published in September 2018.
Nonfiction
An ideal starting point for anyone who wants to know more about genes, DNA, genomes, and the genetic ties that bind us all.

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