University of Wisconsin–Madison

Biochemical Genetics Clinic

Welcome

Greg Rice, MD with patient in clinicThe Waisman Center Clinics provide comprehensive clinical care and support for children with disabilities and their families. The Waisman Center Biochemical Genetics Clinic is a partnership with UW Health and the American Family Children’s Hospital. The Biochemical Genetics Clinic is an interdisciplinary clinic for people of all ages who have suspected or known hereditary metabolic disease. These include: aminoacidopathies (such as phenylketonuria or PKU), organic acidemias (including propionic and methylmalonic acidemias), defects of fatty acid metabolism (such as medium chain acyl CoA dehydrogenase deficiency or MCADD), and for observed neurodevelopmental and biochemical abnormalities (e.g. autism spectrum disorders, acidosis, hyperammonemia, seizures). Professionals in pediatrics, nutrition, genetic counseling, and nursing provide initial diagnostic/confirmatory services and longitudinal medical care and nutritional supervision, counseling, care coordination and referrals.

YOUR CLINIC VISIT

If you are interested in an appointment, please have your/your child’s primary care provider fill out a referral at uwhealth.org/referral.  We will call you to schedule an appointment once we have processed the referral.

  • Prior to your appointment, a packet of materials will be sent to you including directions to the Waisman Center and a parking permit. Park in the designated BLUE visitor and client parking stalls. (See map and directions on back.)
  • Our clinic is located on the first floor of the Waisman Center, 1500 Highland Avenue. Plan to arrive 20 minutes prior to your scheduled appointment. Check in at the clinic reception desk located just beyond the Waisman Center’s main lobby.
  • A medical assistant will obtain your child’s height, weight, pulse and blood pressure. You and your child will be taken to an examination room. A biochemical geneticist, metabolic dietitian, genetic counselor or nurse practitioner will obtain a thorough health history. You or your child will be thoroughly examined and staff will discuss the evaluation and answer any questions you may have.
  • Other professionals may also provide evaluations and/or consultations as needed.
  • Necessary laboratory evaluations will be discussed and coordinated.

NOTE: Full visit information will be shared in writing with you and your child’s primary health care provider, subspecialists, and others as indicated by signed release of information forms.

GOALS OF THE CLINIC TEAM

  • Provide comprehensive, state-of-the-art diagnostic services and medical and nutritional management.
  • Educate patients and families about their biochemical disorders, associated complications and the genetic cause.
  • Provide health care counseling about potential risks and preventive behaviors.
  • Refer and collaborate with other health professionals to meet patient’s special needs.
  • Provide information on community resources and services to support patients and families.
  • Support and advocate for the patient and family.

Clinic Director

Jessica Scott Schwoerer, MD

Clinical Biochemical Geneticist

Physician

Gregory Rice, MD

Clinical Biochemical Geneticist

Clinic Coordinator

Nicoletta Drilias, RD, CD

Metabolic Dietitian

Clinic Team

Therese Breunig, RD, CD

Metabolic Dietitian

Sonja Henry, MS, CGC

Genetic Counselor

Ashley Kuhl, MS, CGC

Genetic Counselor

Katie Williams, MD, PhD

Biochemical Genetics Fellow