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ASXL Care Directory

The ASXL Care Directory is a list of doctors, therapists, and other healthcare professionals who have been recommended by ASXL families or who have self-identified as having experience treating individuals with ASXL-related disorders.

Disclaimer: The ASXL Care Directory is a community effort. The ARRE Foundation has not vetted these professionals and makes no claims to their skills, experience, or professional judgement.

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ASXL Care Directory

Clinical genetics

Max Horlbeck, MD, PhD

Boston Children's Hospital (Boston,MA)

https://www.childrenshospital.org/providers/max-horlbeck

Clinical genetics

Ellen Roy Elias, MD

Children's Hospital Colorado Anschutz Medical Campus (Aurora,CO)

https://www.cumedicine.us/providers/pediatrics/ellen-roy-elias

Gastroenterology

Sarah Kaiser

British Columbia Children's Hospital (Vancouver, BC)

https://www.bcchildrens.ca/clinics-services/gastroenterology

Neurology

Michelle Demos MD, FRCPC

British Columbia Children's Hospital (Vancouver, BC)

https://www.bcchr.ca/mdemos

Palliative care

Allison Caldwell, MD

Maine Health (Scarborough, ME)

https://www.mainehealth.org/providers/allison-m-caldwell-md

Pediatrics

Juliana Mariani MD

Boston Children's Hospital (Boston, MA)

https://www.childrenshospital.org/directory/juliana-mariani

Orthopedics

Rany (Ron) El-Hawary MD, MSc, FRCS

Boston Children's Hospital (Boston,MA)

https://www.childrenshospital.org/directory/rany-ron-el-hawary

Physical therapy

Kelly Arnoldy

Therapy for Kids (Chicago, IL)

https://www.therapyforkidschicago.com/

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ASXL clinical specialists

There are several clinical specialists who have expertise in understanding and treating ASXL-related disorders. These specialists are also involved in ASXL research. Most sites are also enrollment sites for the ASXL-Related Disorders Natural History Study and can collect research data and samples.

If you are a clinician who would like to be added to this list, please contact us.

Boston Children’s Hospital (Boston, Massachusetts, USA)

Max Horlbeck, MD, PhD
Clinical geneticist

Email: maximilian.horlbeck@childrens.harvard.edu

Learn more

Duke Health (Durham, North Carolina, USA)

Vandana Shashi, MD, MBBS
Clinical geneticist
Lenox Baker Children’s Hospital

Email: vandana.shashi@duke.edu

Learn more

Jennifer Cohen, MD
Clinical geneticist
Lenox Baker Children’s Hospital

Email: jennifer.l.cohen@duke.edu

Learn more

Kennedy Krieger Institute (Baltimore, Maryland, USA)

Natasha Ludwig, PhD
Clinical neuropsychologist

Email: ludwigresearch@kennedykrieger.org

Learn more

KK Women’s and Children’s Hospital Singapore

Wen-Hann Tan, BMBS
Clinical geneticist

Email: genetics@kkh.com.sg. Patients should specify that they want to see Dr. Wen-Hann Tan / Dr. Yap Zhi Min.

Learn more

Sheffield Children’s NHS Foundation Trust (Sheffield, UK)

Meena Balasubramanian, MBBS, DCH, FRCPCH, MD
Clinical geneticist
Sheffield Clinical Genetics Service

Learn more

UCLA Health (Los Angeles, California, USA)

Bianca Russell, MD
Clinical geneticist
UCLA ASXL-Related Disorders and Chromatinopathies Clinic

Email: asxl-chromatin-registry@mednet.ucla.edu

Learn more

Help us build this directory

Do you have a great healthcare provider to add to this list? This directory is driven by family recommendations! Help us make this a great resource for ASXL families around the world.

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