Healthcare Providers
With the complex needs of a patient with 22q11.2 deletion syndrome, finding research and information can be challenging. We have organized these open access resources for medical professionals including: webinars on various medical aspects of the diagnosis, updated medical guidelines for managing patients with this condition, and a list of clinics around the country that specialize in caring for patients with 22q. If you are new to this diagnosis, we hope these resources are helpful in providing the best care for your patient.
Physicians Welcoming 22q Treatment Inquiries
Each of the physicians listed below welcomes inquiries from physicians regarding the treatment of children and adults living with 22q.
Dr. Brian Forbes, MD
“Have published 2 papers on the ocular findings in 22q deletion syndrome”
- Specialties: Ophthalmology
- Phone: 215-590-4598
- Email: forbesb@email.chop.edu
- Clinic Address: Children’s Hospital of Philadelphia (CHOP), 9th Floor 34th and CC Blvd., Philadelphia, PA 19104
Dr. Emily Gallagher, MD, MPH
“During my fellowship in craniofacial medicine, I provided comprehensive multidisciplinary care for many children with 22q Deletion Syndrome. After fellowship, I became the medical director of the craniofacial program at OHSU in Portland, OR, where I founded a multidisciplinary clinic specifically for children with 22q. I am also working with Camp Korey to offer family weekends for families of children living with 22q in the Pacific Northwest as a way to network and support each other. I enjoy helping these families find the medical and social resources they need, and I am happy to discuss this more with other providers.”
- Specialties: Pediatrics, Craniofacial Medicine
- Phone: 503-494-6513
- Email: gallagem@ohsu.edu
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Clinic Address: Doernbecher Children’s Hospital
Mail Code CDRCP 707 SW Gaines St
Portland, OR 97239-2998
Patrick S. Pasquariello Jr., MD
General pediatrician and member of the 22q11 Deletion Team at the Children's Hospital of Philadelphia. I have examined over 500 children diagnosed with 22q11.2 Deletion Syndrome and serve as a consultant to the division of genetics and plastic surgery.
- Specialties: General Pediatrics
- Phone: (215) 590-4020
- Email: Pasquariello@email.chop.edu
Dr. James Verbsky MD
Currently working with collegues to develope and implement newborn screening for 22q11.2 syndrome. Actively diagnosing, evaluating, and managing immune aspects of 22q11 disorder in patients.
- Specialties: Immunology/Rheumatology
- Phone: (414) 266-6840
- Email: jverbsky@mcw.edu
- Clinic Address: Childrens Hospital of Wisconsin, 9000 W. Wisconsin Avenue, Wauwatosa, WI 53226
Dr. Paula Goldenberg, MD, MSW, MSCE, FAAP, FACMG
Director of the Northeast Regional 22q11.2 Deletion Syndrome Clinic at MassGeneral Hospital
Geneticist, Pediatrician, and parent of a young adult with 22q11.2 Deletion Syndrome
Experience with hundreds of families through internet support networks, the International 22q11.2 Deletion Syndrome Foundation
Clinical care of patients with 22q11.2 Deletion Syndrome since 2005 at Duke, Cincinnati Children’s Hospital, and MassGeneral Hospital
Participated in the development of the International Health Management Guidelines
- Specialties: Medical Genetics, Pediatrics
- Phone: (617) 726-1561
- Email: pgoldenberg2@partners.org
- Clinic Address: Massachusetts General Hospital/ MassGeneral Hospital for Children, Medical Genetics, 175 Cambridge St, 5th Floor, Boston, MA 02114
Dr. Richard E. Kirschner, MD, FAAP, FACS
Chief of Plastic and Reconstructive Surgery and Co-Director of the 22q Center at Nationwide Children’s Hospital. More than 20 years experience in research, assessment and surgical management relating to velopharyngeal disorders and cleft lip and palate.
- Specialties: Plastic and Reconstructive Surgery
- Phone: 614-722-3887
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Email:
richard.kirschner@nationwidechildrens.org - Clinic Address: 700 Children’s Drive, Columbus, Ohio 43205
Dr. Robert Hopkin, MD, FAAP, FACMG
Co-Director of The 22Q-VCFS Center at Cincinnati Children's. Primary Geneticist in 22Q-VCFS Clinic. Experience with several hundred children and many adults with 22Q-VCFS. Publications relating to 22Q-VCFS.
- Specialties: Clinical Genetics - Co-Director 22Q-VCFS Center - Genetic Residency Program Director
- Phone: (513) 636-4760
- Email: Robert.Hopkin@cchmc.org
- Clinic Address: Cincinnati Children's Hospital Medical Center, The 22Q-VCFS Center - MLC4006, 3333 Burnet Avenue, Cincinnati, OH 45229