RNU Centers of Excellence

Who they see: The team plans to serve people with both dominant and recessive ReNU2. Their program is still developing.

Supports transition to adult care: Yes

Care available: The team includes genetics, developmental pediatrics, neurology, and endocrinology. They aim to coordinate referrals and help connect families with the right specialists. The hospital's own genetic testing (genome sequencing) can detect RNU2-2 changes.

Getting an appointment: In-person care is generally easiest for families living in Alberta. Families elsewhere in Canada can reach out for information, support, and help finding the right specialists.

Research: The team focuses on earlier diagnosis and new ways to diagnose RNU-related conditions. This includes research using 3D facial imaging, which looks at whether people with a condition share subtle facial features to help doctors recognize and diagnose it sooner. We will share opportunities for families to take part as they become available.

Contact: Dr. Mike Innes, Department of Medical Genetics
micheil.innes@albertahealthservices.ca
Dr. Caitlin Goedhart, Intake Coordinator
caitlin.goedhart@albertahealthservices.ca
+1 403 955 7588
28 Oki Drive NW, Calgary, Alberta T3B 6A8

Who they see: People with dominant and recessive ReNU2.

Supports transition to adult care: Yes

Care available: A multidisciplinary clinic led by Dr. Maya Chopra and Dr. Kellen Winden, where families can see several specialists, including neurology, genetics, genetic counseling, endocrinology, gastroenterology, ophthalmology, and orthopedics.

Getting an appointment: Request an appointment online, or contact the clinic by email or phone.

Research: Boston Children's runs an RNU2-2 natural history study, led by Dr. Maya Chopra, which follows people over time to learn how ReNU2 changes and develops.

Contact: Jillian O'Toole, MS, CGC, Intake Coordinator
RNU.NEXTGen@childrens.harvard.edu
617-355-5291
International: +1-617-355-5209
2 Brookline Place, Brookline, MA 02445
Clinic website

Who they see: People with ReNU2.

Supports transition to adult care: Yes

Care available: Patients are seen by an epileptologist (a neurologist specializing in seizures). The team can refer to neuropsychology, developmental pediatrics, genetics, gastroenterology, endocrinology, and other specialties. A registered dietitian can help with ketogenic diets.

Getting an appointment: Ask your doctor for a referral to the Cook Children's neurology team.

Research: Research is managed separately from clinic visits. If a suitable study is available, your epileptologist can check with the research team whether you qualify. A national registry (PERC) is being expanded to include people with ReNU2 to learn how the condition develops over time. It is still being set up and is not open yet.

Contact: Kate Polentas, BSN, RN, CPN, Epilepsy Coordinator
Katie.Polentas@cookchildrens.org
(682) 885-7259
Main line: +1 682 885 2500
Clinical leads: Dr. Rebecca Luke and Dr. Scott Perry
Jane and John Justin Institute for Mind Health, 1500 Cooper St, 4th Floor, Fort Worth, TX 76104

Who they see: People with dominant and recessive ReNU2, including those with a suspected, uncertain, or confirmed diagnosis.

Supports transition to adult care: Yes

Getting an appointment: If you live in England, any doctor or clinician involved in your care can refer you. If you live outside England, you or your clinician can contact the team to discuss options.

Research: The team is setting up a patient registry and biobank (a collection of samples used for research). We will share details when families can take part.

Contact: Professor Siddharth Banka and Dr. Adam Jackson
siddharth.banka@manchester.ac.uk
adam.jackson@manchester.ac.uk
+44 161 276 6506
6th Floor, Saint Mary's Hospital, Oxford Road, Manchester M13 9WL
mrcc.org.uk

Who they see: People with ReNU2, including new patients.

Supports transition to adult care: Yes

Getting an appointment: Email MSSMClinicalGenetics@mssm.edu to request an appointment with Dr. Mafalda Barbosa in clinical genetics.

Research: Mount Sinai runs the INDEED study, which investigates ReNU, ReNU2, and other newly discovered genetic conditions. Families with a confirmed ReNU2 diagnosis can take part by requesting a clinical appointment with Dr. Barbosa. Families who suspect ReNU2 but do not yet have a diagnosis can contact the study team at zafiirah.baurhoo@mssm.edu. Learn more at indeedstudy.org.

Contact: Dr. Mafalda Barbosa
Ashley Daniels, Clinical Administrative Coordinator
MSSMClinicalGenetics@mssm.edu
+1 212 241 4709
1428 Madison Avenue, Atran Building, 1st Floor, New York, NY 10029

Who they see: The genetics team sees children and adults with ReNU2.

Supports transition to adult care: Yes

Care available: General genetics clinics for children and adults at two locations.

Getting an appointment: Get a referral from your doctor, then call the front desk at 516-918-4800 to schedule.

Research: Northwell's research program is being updated so it can include more participants, including families outside the United States. ReNU2 families will be able to take part once the updated version is in place.

Locations:
225 Community Drive, Suite 110 (west entrance), Great Neck, NY 11021
480 Bedford Road, Building C, Chappaqua, NY 10514. This location will move within Chappaqua in 2027; we will update the address when it is available.

Contact: Kelsey Crocker, MS, CGC, Genetic Counselor
kcrocker@northwell.edu
Front desk: 516-918-4800
Clinical lead: Dr. Ian Krantz

Who they see: People with dominant and recessive ReNU2.

Supports transition to adult care: Yes

Care available: A dedicated RNU clinic, where families can see several specialists in one day, is planned for early 2027. Until then, Dr. Dena Matalon sees patients in the medical genetics clinic.

Getting an appointment: Submit a referral using the Medical Genetics New Patient Referral Form.

Research: Stanford enrolls people with ReNU2 in the GREGoR Study, which uses advanced genetic and RNA testing to better understand how ReNU2 works. To apply, ask your doctor to submit the Clinician Referral Form Part One. Submitting the form confirms you are interested and agree to be contacted. The study team will then follow up with you, and may suggest a different study if it is a better fit.

Contact: Juliana Malin Walrod, Intake Coordinator
jwalrod@stanford.edu
+1 650 721 5804
Clinical leads: Dr. Dena Matalon, Devon Bonner (genetic counselor), and Dr. Rodrigo Mendez
730 Welch Rd, Palo Alto, CA 94304

Who they see: The team is building experience with ReNU2. RNU2-2 is now included in genetic testing for people with rare conditions that have not yet been diagnosed.

Supports transition to adult care: Yes

Care available: A large public hospital with pediatric and adult services, including genetics, neurology, developmental pediatrics, rehabilitation, cardiology, endocrinology, gastroenterology, pulmonology, psychiatry, and psychology. Care can be coordinated across specialists based on each person's needs.

Getting an appointment: Vall d'Hebron is part of Spain's public healthcare system. Referrals come through your primary care doctor or another specialist. Private consultations are not available.

Research: The team is active in rare disease and genetic research. There is no study specific to ReNU2 open yet.

Contact: Dr. Irene Valenzuela, Clinical Genetics
irene.valenzuela@vallhebron.cat
+34 934 893 141
Passeig Vall d'Hebron 119-129, 08035 Barcelona