BioPharma Needs A Safe, Reliable Way To Repair Broken Genes


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The sequencing of the human genome didn’t immediately lead to treatments for a number of diseases, as many had hoped and a smaller number had predicted. However, the enormous drop in the price of DNA sequencing over the past decade has now made it possible to sequence an individual’s complete genome for less than $5,000.

Uncovering the molecular underpinnings of human diseases is not a new endeavor, but the pace at which these discoveries are being made is breathtaking. It is now cost and time effective to use DNA sequencing as a diagnostic tool for individuals suffering from a wide variety of congenital maladies. Instead of putting patients through batteries of expensive and sometimes invasive testing, DNA sequencing is becoming the go-to method for discerning the molecular truth. Science journals are packed with articles in which sequencing has led to the identification of a growing number of genes that, when altered, appear to be the causative agents responsible for these diseases. Here is just a sampling of medical conditions that have been tied to specific genetic defects over just the past few years:

Ogden syndrome (NAA10), dominant X-linked juvenile and adult onset ALS and ALS dementia (UBQLN2), dopa responsive dystonia (SPR), early onset severe bowel inflammation (XIAP), craniosynstosis (HUWE1), developmental disorder (DDOST), Hadju-Cheney syndrome (NOTCH2), Proteus syndrome aka elephant man disease (AKT1), Thrombocytopenia-absent radius [TAR] syndrome (EBN8A), hereditary diffuse leukoencephalopathy with spheroids (CSF1R), ALS and frontotemporal dementia (C9ORF72), juvenile ALS (SIGMAR1), adenoid cystic carcinomas (MYB-NFIB), postlingual nonsyndromic hearing impairment (PRPS1), familial diarrhea syndrome (GUCY2C), and even a type of stuttering (NAGPA).

These discoveries build on the work of the past few decades, which saw the root cause for a number of diseases identified by other genetic approaches. These include cystic fibrosis (CFTR), Huntington’s disease (HTT), Tay Sachs (HEXA), Duchenne muscular dystrophy (DMD), and sickle cell anemia (HBB). Sequencing efforts may not directly help identify all of the components that contribute to multi-factorial illnesses like heart disease and diabetes, or chromosomal abnormalities like Turner or Klinefelter’s syndromes. However, the overall impact of this sequencing work has been spectacular, and we’re not done yet. The National Organization for Rare Disorders reports that there are 6,000-7,000 known rare diseases that affect some 25-30 million Americans. Approximately 250 of these diseases have FDA-approved therapies. The molecular pathology behind a much larger number of these diseases has still not been discovered. That leaves a lot of people looking for both … Next Page »

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Stewart Lyman is Owner and Manager of Lyman BioPharma Consulting LLC in Seattle. He provides strategic advice to clients on their research programs, collaboration management issues, as well as preclinical data reviews. Follow @

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3 responses to “BioPharma Needs A Safe, Reliable Way To Repair Broken Genes”

  1. I am the executive director of KS&A, the world’s oldest and largest organization dedicated to X and Y chromosome variations (sex chromosome aneuploidy)–including 47,XXY and the related package of symptoms known as Klinefelter Syndrome.

    At the moment, there is only one definitive post-natal test for these conditions: a genetic test called a karyotype. Since early diagnosis creates opportunities for early interventions and therapies that significantly improve outcomes, KS&A is eager for the introduction of widespread genetic testing, both prenatal and newborn screenings, that will identify these conditions.

    James Moore
    Executive Director
    P.O. Box 461047
    Aurora, CO 80046-1047
    [email protected]
    Toll-Free Helpline: 888-999-9428 (Denver/International: 303-400-9040)

  2. yang xie says:

    many that are discussed above are also true for the therapeutic innovation in all diseases indications. people have the impression that drug r&d is such a huge undertaken with big many risks every step of the way, not to mention the big bucks needed or even wasted to support it. if a mission is too big to handle for a single stakeholder, what you do? you break it down to smaller incremental pieces, letting each party focus on few one of them, with a relatively foreseeable exit to meet their financial goals. Or we should focus on creating some intermediate mechanism, e.g. incubator, that bring together different players with a reduced risk or financial burden for each party. In the end, as is always said, people have no problem paying for success. With that said, all we need to focus is how to make real improvement by joining force, even in a incremental way.