PubMed search for Dr. Paul Fernhoff

Areas of Specialization/Research Interests:
Clinical and Prenatal Genetics Diagnosis and Counseling
Inborn Errors of Metabolism
Newborn Screening for Genetic Disorders
Public Health and Ethical Applications of Genomics

Education:
1976-78: Postdoctoral fellowship in Medical Genetics: Emory University
1976-78: Public Health Service at Centers for Disease Control
1971-76: Residency in Pediatrics: Children's Hospital of Philadelphia 1971-74
1971: MD. Jefferson Medical College 1971
1967: BS. Rutgers University

Research Description:
Clinical Genetics: As the Director of Clinical Genetics for the Division of Medical Genetics, Department of Human Genetics and as a Board Certified Clinical Geneticist, I coordinate the clinical genetic activities for our Division. Our clinicians and genetic counselors see children, adults and families for diagnostic services and genetic counseling in a variety of clinic settings. General genetic, metabolic, specialty and prenatal genetic clinics are held in many locations in Atlanta and in other cities in Georgia. Hospitalized children and adults are seen in consultation at all Emory affiliated and many private hospitals in Atlanta.

Inborn Errors of Metabolism and Newborn Screening (NBS) for Genetic Disorders: Our Division is under contract with the GA. Department of Health to coordinate all follow-up activities for the GA Newborn Metabolic Screening Program. Each year over 140,000 infants in GA are screened for an increasing number of metabolic disorders. Our clinical and laboratory personnel must quickly find these infants, assess their clinical status, arrange for appropriate diagnostic metabolic and molecular tests. If the child is found affected with a metabolic disorder, we initiate their life-long nutritional and medical therapies. Newborn screening is one of the best examples of using genetic technologies to prevent mental retardation or death. It is also becoming a child's first "genetic report card." As Chairman of the GA Newborn Screening Advisory Council and as a member of the National March of Dimes Newborn Screening Advisory Council, I am actively involved in local and national NBS activities.

Public Health and Ethical Applications of Genomics: Because of the potential to abuse genetic technologies and information, ethicists closely scrutinize clinical genetics and genetic testing. I am active in local and national activities in assessing the ethical implications of introducing genetic technologies, such as newborn screening into public health programs. As a visiting scientist at the Center on Birth Defects and Developmental Disabilities at the CDC, I work closely with colleagues to study the origins of birth defects and developmental disabilities and to assess the long-term outcome of genetic screening programs. I am also the Medical Director of the Pediatric Program of Hospice Atlanta, one of the largest children's hospice and palliative care programs in the country.

Professional Memberships and Activities:
Memberships in and office holder in over 20 national, regional and local professional organizations and editorial boards. Author or co-author of 60 peer-reviewed articles, 50 presentations at national or regional genetic meetings and active lecturer in genetics (~25 to 30 each year) at and outside of Emory University.