Genetics (Molecular and Human)

Providing Care Through the Diagnosis and Treatment of Your Child's Genetic Disorder

Genetics (Molecular and Human)

Genetics provides diagnostic evaluations for patients with known or suspected genetic diseases, genetic and prenatal counseling for families and treatment of genetics disorders, especially inborn errors of metabolism. Clinical services are supported in part by the Ohio Department of Health as a Regional Genetics Center of the State of Ohio, Region IV.

For information about joint hypermobility/connective tissue disorders/Ehlers-Danlos syndrome, please see the 700 Children’s blog post here. For those interested in scheduling an evaluation for these conditions, the Hypermobility Practitioner Questionnaire must be completed prior to an appointment being scheduled. Download the Hypermobility Practitioner Questionnaire.

About

Metabolic Consultation

Recently, the State of Ohio Department of Health enacted an expansion of our Newborn Screening Program that now screens babies for 36 different inherited disorders. Many of these conditions are exceedingly rare and require specialized testing and restricted diets or medications that are usually outside the realm of expertise for a typical pediatric practice.

The Metabolic Clinic at Children's Hospital is uniquely positioned to provide detailed and comprehensive diagnostic evaluations as well as long-term management for disorders of amino acid, carbohydrate and fatty acid metabolism. The clinic is staffed by two Board-certified Biochemical Geneticists, a Metabolic nurse and two dietitians with extensive experience in the treatment of metabolic disease. On-site laboratory support includes capabilities for measuring amino acids, organic acids, and acylcarnitines, using state-of-the-art technology including tandem mass spectrometry. Patients with a wide variety of disorders including PKU, MUSD, galactosemia, glocogen storage diseases, mucopolysacharidoses, and urea cycle defects receive genetic counseling and coordinated care using a team approach in this clinic.

The Metabolic Clinic is held on Monday afternoons in Suite T4D at Nationwide Children's Hospital. For further information, or to make an appointment, please call (614) 722-3543

Medical Genetics and Combined Peds-Genetics Residencies

We currently have a two-year Medical Genetics and four-year combined Pediatrics/Medical Genetics residency program at our institution.  For more information about the program, feel free to visit the Medical Genetics Residency webpage.

Leadership

Kim McBride

Kim L. McBride

Kim L. McBride, MD, MS, is Division Chief of Genetic and Genomic Medicine at Nationwide Children's Hospital.

Dennis Bartholomew

Dennis W. Bartholomew

Dennis W. Bartholomew, MD, is Chief of the Section of Molecular and Human Genetics and Director of the Biochemical Genetics Laboratory in the Department of Laboratory Medicine at Nationwide Children’s Hospital and a Clinical Professor of Pediatrics at The Ohio State University College of Medicine.

Our Clinics 

Genetics Clinic
Tower Building, 4th Floor, Suite D
700 Children's Drive
Columbus, OH 43205
(614) 722-3535
FAX (614) 722-3546

Metabolic Clinic

Tower Building, 4th Floor, Suite D
700 Children’s Drive
Columbus, OH 43205
(614) 722-3543
FAX (614) 722-3546

Dublin Genetics Clinic

Dublin Medical Office Building
5665 Venture Drive
Dublin, OH 43017
(614) 722-3535
FAX (614) 722-3546
Tuesdays all day

Westerville Genetics Clinic
Close To Home Center on N. Cleveland Avenue
Westerville, OH 43082
(614) 722-3535
FAX (614) 722-3546
Mondays 12:30 pm – 5:00pm

Outreach Clinics

Athens Outreach
278 W. Union Street
Athens, OH 45701
To schedule, call: (614) 592-4431
FAX (614) 594-9929
Held bimonthly on a Wednesday


Lima Outpatient Specialty Clinics

830 W. High Street, Suite 307
Lima, Ohio 45801
To schedule, call: (614) 722-3535
Fax referral to: (614) 722-3546
Office Phone: (419) 226-9694 or (800) 742-3208
4th Wednesday of the month

Marietta Outreach
Marietta City Health Department
304 Putnam Street
Marietta, OH 45750
To schedule, call: (740) 373-0611
FAX (740) 376-2008
Held bimonthly on a Wednesday

Waverly Outreach
Pike County General Health District
14050 US23 N
Waverly, Ohio 45690
To schedule, call: (614) 722-3535
Fax referral to: (614) 722-3546
Office Phone: (740) 947-7721
Office Fax (740) 947-1109
Held bimonthly on a Wednesday

Zanesville Outreach
Muskingham Valley Health Care
719 Adair Avenue
Zanesville, Ohio 43701
To schedule, call: (614) 722-3535
Fax referral to: (614) 722-3546
Held bimonthly on a Wednesday

Affiliated Specialty Clinics

22q Center
Nationwide Children’s Hospital
700 Children’s Drive
Columbus, OH 43205
(614) 722-6200
FAX (614) 722-4000
Office phone (614) 962-6373

Child Development Center
187 W. Schrock Rd.
Westerville, OH 43081
(614) 722-6200
FAX (614) 722-4000
Office phone (614) 355-8080

Complex Epilepsy Clinic (Epilepsy Center)
Nationwide Children’s Hospital
700 Children’s Drive
Columbus, OH 43205
(614) 722-6200
FAX (614) 722-4000

Cleft Lip and Palate Center
Nationwide Children’s Hospital 
700 Children's Drive
Suite T5E
Columbus, Ohio 43205
(614) 722-6200
FAX (614) 722-4000
Office phone (614) 962-6366
Tues. 12:30 pm – 5 pm

Cystic Fibrosis Clinic
Outpatient Care Center, 5th Floor
555 S. 18th Street
Columbus, OH 43205
Phone: (614) 722-4766
Fax: (614) 722-4755
Tues PM, Wed PM, and Thurs PM

Down Syndrome Clinic (Developmental and Behavioral Pediatrics)
Nationwide Children’s Hospital
700 Children’s Drive
Columbus, OH 43205
(614) 722-6200
FAX (614) 722-4000
Office phone (614) 722-4050

Muscular Dystrophy Association (MDA)/Spinal Muscular Atrophy (SMA) Clinic
Outpatient Care Center, 1st Floor
555 S. 18th Street
Columbus, OH 43205
(614) 722-6200
FAX (614) 722-4000
Office phone (614) 722-2203
Wednesdays

Myelomeningocele Clinic (Developmental and Behavioral Pediatrics)
Nationwide Children’s Hospital
700 Children’s Drive
Columbus, OH 43205
(614) 722-6200
FAX (614) 722-4000
Office phone (614) 722-4050
Friday AM

Prader-Willi Syndrome Clinic (Endocrinology)
Outpatient Care Center, 5th Floor
555 S. 18th Street
Columbus, OH 43205
(614) 722-6200
FAX (614) 722-4000
Office phone (614) 722-4425
2nd Friday of the month

Williams Syndrome Clinic (Developmental and Behavioral Pediatrics)
Nationwide Children’s Hospital
700 Children’s Drive
Columbus, OH 43205
(614) 722-6200
FAX (614) 722-4000
Office phone (614) 722-4050
2nd Tuesday of the month

Research

McBride Reveals Common Molecular Mechanism          

Research conducted by Kim L. McBride, MD, MS, and colleagues reveals, for the first time, a common molecular mechanism for aortic valve stenosis, coarctation of the aorta and hypoplastic left heart syndrome. Although all three conditions involve the left side of the heart, a molecular similarity between the three defects had not yet been identified.   

Genetics of Left Ventricular Outflow Tract Malformations    

Learn about the Genetics of Left Ventricular Outflow Tract Malformations" Research Study.

Molecular and Human Genetics Research News

Learn more about Molecular and Human Genetics research at Nationwide Children's Hospital.

Conditions We Treat

  • Aarskog Syndrome
  • Aase Syndrome
  • Acrodysostosis
  • Chediak-Higashi Syndrome
  • Cri du Chat Syndrome
  • Duchenne Muscular Dystrophy
  • Hereditary Fructose Intolerance
  • Hunter Syndrome
  • Karyotyping
  • Krabbe Disease
  • Pierre Robin Syndrome
  • Progeria
  • Prune Belly Syndrome
  • Riley-Day Syndrome
  • Rubinstein-Taybi Syndrome
  • Sanfilippo Syndrome
  • Transient Familial Hyperbilirubinemia
  • Treacher-Collins Syndrome
  • Trisomy 13
  • Trisomy 18
  • Waardenburg Syndrome
  • Williams Syndrome
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