SERC | Southeast NBS & Genetics Regional Collaborative

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South Carolina State Projects
Quick Facts  

South Carolina

2010 Population:  4,625,364

2010 Yearly Birthrate58,342

Total Conditions Screened:  52 

Clinics and Centers  

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Convention Center Convention CenterUniversity University
Laboratory LaboratoryClinic Clinic
Pharmacy PharmacyPublic Health Public Health
Hospital HospitalMedical Food Company Medical Food Company
Consumer Group Consumer Group

Contacts in South Carolina  
  • Lucas Bronicki PhD
  • Richard Ferrante PhD
    LEND
  • Suzanne McDermott PhD
    LEND
  • Daynna J. Wolff PhD, FACMG
    Cyto Lab
    Diagnostic Lab Director
    Molecular Lab
  • Tim C Wood PhD
    Biochem Lab
    Diagnostic Lab Director
  • Neena L Champaigne MD
    Medical Geneticist
  • David Everman MD
  • Shashidhar Pai MD
    Academic Contact
  • Curtis Rogers MD
  • Richard J Schroer MD
    Medical Geneticist
  • Laura Dority MS, RD, LD
    Dietitian
    Metabolic Nutritionist
  • Julie Kumar MS, RD, LD
    Dietitian
    Metabolic Nutritionist
  • Melinda H Whetsell MS, RD
    Dietitian
    Metabolic Nutritionist
  • Amie Thompson RD, LD
    Metabolic Nutritionist
  • Kathy Tomashitis RD, LD, MNS
    Coordinator
    NBS Program Contact
    Shortterm follow up
  • Graham S McCaskill BS
    NBS Tandem MSMS Expert
  • Mary Rose Simpson BS
    Academic Contact
  • Sandi S Hall MTASCP
  • Beth DeSantis
    Title V Contact
  • Amber Miliote
    Consumer Representative
    Family Member
  • News
    Individuals with Sickle Cell Disease or Inherited Metabolic Disorders who have Successfully Transitioned from Pediatric to Adult Care Needed for Online Survey Participation
    Individuals with Sickle Cell Disease or Inherited Metabolic Disorders who have Successfully Transitioned from Pediatric to Adult Care Needed for Online Survey ParticipationResearch OpportunityResearchers with SERC Medical Home & Transitioning Workgroup and SERC Consumer Alliance are are recruiting individuals ages 25-35 (and/or…

    Limestone Life article highlights PKU (Athens, AL)
    Limestone Life article highlights PKU (Athens, AL) Athens, AL based magazine Limestone Life features an article in their latest edition about Adam and Julie Tucker and their…

    SERC Highlights
    February 2017

    Introducing the NBS Connect patient registry!

    Introducing the NBS Connect patient registry!

    NBS Connect http://nbsconnect.org has been designed as a resource for those affected by certain disorders included in the newborn screening (NBS) panel. Extensive development of the registry will occur via a phased approach. The registry was launched with NBS-PKU Connect for Phenylketonuria, then NBS-MSUD Connect for Maple Syrup Urine Disease. The next phase is now available with. NBS-TYR Connect for Tyrosinemia. Expansion of the registry will continue to include other disorders in the recommended uniform screening panel (RUSP), endorsed by the American College of Medical Genetics (ACMG)

    We encourage patients affected with PKU, MSUD and Tyrosinemia to visit the website at www.nbsconnect.org , register and complete their participant profiles. Participants will have access to disorder specific education materials, information on the latest research and clinical trials, recipes, interactive health tracking systems, “Ask an Expert” tools and more. We hope you will take advantage of the resources provided which will empower you to make more informed healthcare decisions.

    This registry will be an asset both for forming connections between consumers and for building a qualitative database for future research.

    If you have any questions, please email the project manager Yetsa Osara at coordinator@nbsconnect.org.

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