Genetics

Children's genetics program

Children's genetics program serves children with genetic disorders and families with a history of genetic issues. Families who come to the genetics program sometimes have children who have been misdiagnosed or remain undiagnosed. The genetics team works closely with a range of pediatric subspecialists, such as experts in hematology, oncology, cardiology, cleft and craniofacial surgery, and critical care, to identify the underlying causes of a child's medical issues and determine the best treatment plan for your child.

The program includes:

  • Diagnosis
  • Genetic counseling
  • Genetic testing
  • Management of certain disorders

The program is staffed with physicians who are board-certified in pediatrics and clinical genetics as well as a clinical nurse practitioner specializing in medical genetics. To reach the genetics program, call 612 813 7240.

Children’s genetics team includes three board-certified pediatric geneticists along with highly experienced and trained pediatric nurse practitioners and genetics counselors who work together to evaluate, diagnose, and treat your child. Team members include renowned experts in evaluation of lysosomal diseases, autism, and cardiovascular conditions.


Geneticists

Sarah Dugan, MD

Sarah Dugan, MD, joined Children’s in 2009. She completed her medical education at Johns Hopkins University School of Medicine in Baltimore, MD and her residency in pediatrics at University of Utah Hospital in Salt Lake City, UT. She completed a fellowship in medical genetics at Stanford University Hospital in Palo Alto, CA.

Nancy Mendelsohn, MD

Nancy Mendelsohn, MD, joined Children’s in 2002. In addition to her clinical work, she is the medical director for the medical genetics division at Children’s and an assistant professor at University of Minnesota Medical School. She completed her medical education at University of Missouri, Columbia School of Medicine, in Columbia, MO and her residency in pediatrics at Washington University St. Louis Children’s Hospital in St. Louis, MO; she then remained at Washington University St. Louis Children’s to complete her fellowship in medical genetics.

To view recent research published by a Children’s geneticist, visit Children’s Recent Peer-Reviewed Publications and search under the physician’s name.


Nurse practitioners

Genetic counselors

  • Janice Baker, MS, CGC
  • MaryAnn Fox, MS,CGC
  • Beth Hall, MS, CGC
  • Dinel Pond, MS, CGC
  • Jennifer Roggenbuck, MS, CGC
  • Renee Temme, MS, CGC

Contact Us

  • If you are a family member and want to make an appointment, call Children’s genetics clinic at (612) 813-7240. Clinic hours are Monday through Friday from 8:00 a.m. – 4:30 p.m.
  • If you are a health professional looking for a consultation or referral information, please call Children's genetics clinic at (612) 813-7240 or Children’s Physician Access at 1-866-755-2121 (toll-free). Consultation is available 24 hours per day, seven days per week.

Velocardiofacial syndrome is one of the most common genetic disorders. The disorder, which is also sometimes known as 22q11 deletion syndrome, Shprintzen syndrome, or DiGeorge syndrome, is caused by the deletion of a small segment of the long arm of chromosome 22. Children with velocardiofacial syndrome may have heart problems, learning disabilities, and/or cleft palate, and sometimes have other problems.

Children’s velocardiofacial clinic provides families with a central place to receive coordinated services for your child’s velocardiofacial syndrome needs. This saves time and helps families avoid multiple trips to many doctors and other providers. During visits to the clinic, families may see specialists in:

  • Audiology
  • Cardiology
  • Craniofacial surgery
  • Endocrinology
  • Genetics
  • Immunology
  • Otolaryngology (ear-nose-throat)
  • Psychology
  • Speech language pathology

Your child’s initial visit will include an evaluation or set of evaluations by Children’s subspecialists, customized to your child’s unique needs.


Contact Us

  • If you are a family member and want to make an appointment, call Tess Erickson at Children’s craniofacial clinic at (612) 813-6888. Clinic hours are Monday through Friday from 9:00 a.m. – 5:00 p.m.
  • If you are a health professional looking for a consultation or referral information, please call Children’s Physician Access at 1-866-755-2121 (toll-free).

Children’s genetics team members are nationally regarded experts in the diagnosis, evaluation and treatment of genetic conditions. Services include:

  • Diagnosis and evaluation
  • Clinical management of inherited disorders
  • Connections to community resources and support groups
  • Coordination of appointments with pediatric subspecialists
  • Enzyme replacement therapy, which helps manage symptoms of lysosomal storage diseases (such as Pompe disease; Gaucher disease; Fabry disease; MPS I, also known as Hurler syndrome, Hurler Scheie syndrome, or Scheie syndrome; MPS II, also known as Hunter syndrome; and MPS VI, also known as Maroteaux Lamy syndrome)
  • Genetic counseling, which provides information on rare disorders, inheritance patterns, and recurrence risks
  • Genetic testing
  • Written care summaries provided to primary care providers and other physicians involved in your child’s care

Multidisciplinary clinics, which provide concentrated, coordinated services, include:


Contact Us

  • If you are a family member and want to make an appointment, call Children’s genetics clinic at (612) 813-7240. Clinic hours are Monday through Friday from 8:00 a.m. – 4:30 p.m.
  • If you are a health professional looking for a consultation or referral information, please call Children's genetics clinic at (612) 813-7240 or Children’s Physician Access at 1-866-755-2121 (toll-free). Consultation is available 24 hours per day, seven days per week.

What is lysosomal storage disease?

The lysosome is a part of each cell in your body. Sometimes, the lysosome is called the cell’s recycling center, because it holds enzymes that process unwanted material into substances that the cell can use. Lysosomal storage diseases are disorders that occur when the lysosome doesn’t work correctly.

Lysosomal storage diseases are inherited. Some examples of lysosomal storage diseases are:

  • Fabry disease
  • Gaucher disease
  • MPS I (also known as Hurler syndrome, Hurler Scheie syndrome, or Scheie syndrome)
  • MPS II (also known as Hunter syndrome)
  • MPS III (also known as Sanfilippo syndrome)
  • MPS VI (also known as Maroteaux Lamy syndrome)
  • Pompe disease (also known as glycogen storage disease type II)

What are the symptoms of lysosomal storage diseases?

The symptoms of lysosomal storage disorders vary depending on which syndrome your child has. Many children with lysosomal storage disease have joint stiffness, recurrent hernias, developmental delays, seizures, problems with hearing and sight, and/or problems with the heart and bones.


How are lysosomal storage diseases treated?

Unfortunately, there is no known cure for lysosomal storage disease, but some syndromes can be treated. Careful evaluation and identification of the correct disorder is important to help provide information regarding your child’s future. Families may undergo genetic testing and evaluation so they can determine whether future children would be at risk for lysosomal storage disease.


About treatment for lysosomal storage diseases at Children’s

Children’s genetics program treats children with lysosomal storage diseases by concentrating on relieving symptoms of the condition. One treatment available at Children’s is enzyme replacement therapy. In enzyme replacement therapy, your child is given an infusion intravenously (in the vein) to replace the deficient enzyme. Enzyme replacement therapy has been found to successfully relieve certain symptoms in some types of lysosomal storage diseases, such as Pompe disease, Fabry disease, Gaucher disease, MPS I (also known as Hurler syndrome, Hurler Scheie syndrome and Scheie syndrome), MPS II (also known as Hunter syndrome), and MPS VI (also known as Maroteaux Lamy syndrome).


Contact us

  • If you are a family member and want to make an appointment, call Children’s genetics clinic at (612) 813-7240. Clinic hours are Monday through Friday from 8:00 a.m. – 4:30 p.m.
  • If you are a health professional looking for a consultation or referral information, please call Children's genetics clinic at (612) 813-7240 or Children’s Physician Access at 1-866-755-2121 (toll-free). Consultation is available 24 hours per day, seven days per week.