Tag: Raju Kucherlapati

  • Campus & Community

    Research finds mutation that causes Noonan syndrome

    Scientists have discovered that mutations in a gene known as SOS1 account for many cases of Noonan syndrome (NS), a common childhood genetic disorder that occurs in one in 1,000 to 2,500 live births. NS is characterized by short stature, facial abnormalities, and learning disabilities, as well as heart problems and predisposition to leukemia. Led…

    1–2 minutes
  • Health

    Lab moves genomic testing into the clinic

    The earliest symptom of the inherited heart condition hypertrophic cardiomyopathy can be sudden death at a tragically young age. Harvard Medical School researchers discovered the first human gene underlying the disorder 15 years ago, but clinical genetic testing to identify those people at risk just became available last year. About the same time, another genetic…

    2–3 minutes