Hope For Hypothalamic Hamartomas - August 2021
Hope For HH Awards Research Grants
Genomic Profiling of HH Derived Samples Obtained During Magnetic Resonance-Guided Laser Interstitial Thermal Therapy

Hope for Hypothalamic Hamartomas is proud to have fostered and awarded $59,000 in grants to this collaboration, which will unite and build upon two separate research projects currently ongoing at the University of Melbourne and Baylor College of Medicine. The Melbourne team, in research analyzing the DNA of HH tissue removed during surgery, has shown to date that an individual or cluster of potential genetic markers can be identified in 30-40% of individuals with a hypothalamic hamartoma (read more about this research here). As more surgeries were being performed with the laser, which destroys rather than removes the hypothalamic hamartoma tissue, the research project was running out of tissue to analyze. However, using a technique developed at Baylor, Melbourne has shown it is possible to extract sufficient DNA for genomic screening from the laser sheaths used during surgery (read more here). Hope for Hypothalamic Hamartomas has approved grants to pay for the shipping and associated costs of transferring DNA from hypothalamic hamartoma tissue harvested during surgeries in Phoenix, Calgary and London to the Melbourne team for analysis. Hope for Hypothalamic Hamartomas is grateful to Hope for HH-UK for contributing to these grants.

Building on this cutting-edge research, Hope for Hypothalamic Hamartomas approved a joint grant to the Baylor and Melbourne teams to collaborate in the analysis of tissue extracted from laser catheters used during hypothalamic hamartoma laser surgeries at Texas Children’s Hospital. The extracted DNA will be shared, with the Melbourne team performing whole-exome analysis and the Baylor team attempting a novel method to profile transcriptomes. The aim of the collaboration is to achieve a greater understanding of how genetic variants might cause or affect hypothalamic hamartomas and its symptoms, as well as to establish a universal standard for research collaboration and sharing across institutions and continents.
These incredible research collaborations are made possible by your generous donations. Please consider making a donation here.
HH Comorbidity Survey Nearly 500 Participants
We initiated this survey in the summer of 2019 in hopes of gathering information directly from our Hope for HH community. The initial survey was made available in English and Russian. We were encouraged by the large number of participants - over 250 individuals and caregivers had participated in just two months. During our 4th International Symposium, we shared the initial data results and were requested by our Medical Advisory Board (MAB) to continue to gather data and open it up to include more of our international community. With the help of our MAB and international volunteers, the survey has been translated into French, German, and Japanese.

As of August 2021, we have over 475 participants spanning 25 countries. We'd love to hit 500 before the data collection is closed (August 31). The purpose of this critical survey includes the following:

  • Identify comorbidities that may currently be undiagnosed or under-diagnosed, yet should potentially be included in the comprehensive “syndrome” definition.
  • Expand data collection in the adult population – research to date has been focused heavily on pediatric patients
  • Allow patients and caregivers to identify quality of life (QOL) concerns as well as symptoms they are struggling to obtain proper treatment for
  • Share the patient experience and the challenges/barriers to treatment due to the lack of a comprehensive definition of the Hypothalamic Hamartoma Syndrome

We want to ensure our global community can participate so the survey is now available in multiple languages.


Please take 15 minutes and complete the survey today!
Highlighting HH Healthcare Professionals
Hope for Hypothalamic Hamartomas Board of Directors, Medical Advisory Board and community would like to congratulate Dr. Hussein Hamdi on completing his PhD.

Dr. Hamdi is a neurosurgeon specializing in Functional and Stereotactic Neurosurgery and Gamma Knife Radiosurgery.

Dr. Hamdi dedicated his clinical and research activities in Functional Neurosurgery and Stereotactic Radiosurgery Department under the supervision of Professor Jean RÉGIS, Head of the Department and President of the French Society of Neurosurgery, and Secretary of the World Society of Stereotactic and Functional Neurosurgery and the European Society of Stereotactic and Functional Neurosurgery.

Dr. Hamdi's main interest is hypothalamic hamartoma. He participated in many conferences,
research articles and symposia dedicated to hypothalamic hamartoma through his doctoral
degree. The clinical research was validated by the jury of specialized experts; Professor John
KERRIGAN (University of Arizona, Phoenix, Arizona, USA), Doctor Denis RIVIERE (University of
Paris-Saclay, Paris, France), Professor Stéphan CHABARDES (University of Grenoble Alpes,
Grenoble, France), Professor Marc LEVIVIER (University of Lausanne, Lausanne, Switzerland),
and Professor Raphaelle RICHIERI (University of Aix-Marseille, Marseille, France), and
Professor Jean RÉGIS, the director (University of Aix-Marseille, Marseille, France) under the
title of “Prognostic Value of Cortical and Sub-cortical Abnormal Network in Hypothalamic
Hamartoma Patients Operated by Radiosurgery”.

The clinical research was composed of five chapters which are either published, presented in
international conferences, or under processing for publication; as extensive review and
meta-analysis, cortical abnormalities, sub-cortical abnormalities, impact of fine topography
and invaded hypothalamic areas on clinical presentation and radiosurgery outcome, and
long-term cognitive outcome in hypothalamic hamartoma patients.

Publications 1–10

1. Hamdi H, Albader F, Spatola G, et al. Long-term cognitive outcome after radiosurgery
in epileptic hypothalamic hamartomas and review of the literature. Epilepsia.
Published online April 20, 2021. doi:10.1111/epi.16896

2. Hamdi H, Ferrante P, Spatola G, et al. Epileptic hypothalamic hamartomas impact of
topography on clinical presentation and radiosurgical outcome. Epilepsy Res.
2021;173:106624. doi:10.1016/j.eplepsyres.2021.106624

3. Jean Régis, Hussein Hamdi, Patrick Chauvel. Radiosurgical Treatment for Epilepsy -
Hypothalamic Hamartoma. In: Pediatric Epilepsy Surgery: Preoperative Assessment and
Surgical Treatment. 2nd ed. Thieme Publishers; 2019.

4. Hussein Hamdi, Jean Regis. Gamma knife radiosurgery for hypothalamic hamartoma
associated with severe epilepsy. Presented at the: 19th International Leksell Gamma
Knife; March 2018; Dubai, UAE.

5. Hussein Hamdi, Faisal Albader, Giorgio Spatola, Virginie Laguitton, Agnes Trebuchon,
Fabrice Bartolomei, Jean Regis. Long-term Cognitive Outcome after Radiosurgery in
Epileptic Hypothalamic Hamartomas (Oral Presentation). Presented at the: WSSFN
Meeting, World Society of Stereotaxy and Functional Neurosurgery; June 24, 2019;
New York, NY, USA.

6. Hussein Hamdi, Jean Regis. Hypothalamic Hamartoma, Preliminary Results. Presented
at the: Clinical Neuroscience Research Conference; March 2018; Marseille, France.

7. Hamdi H, Boissonneau S, Hadidane S, Guenot M, Bartolomei F, Regis J. Effective
posterior extension of callosotomy by gamma knife surgery. Epileptic Disord Int
Epilepsy J Videotape. 2020;22(3):342-348. doi:10.1684/epd.2020.1170

8. Hamdi H, Robin E, Stahl J-P, et al. Anterior Thalamic Stimulation Induced Relapsing
Encephalitis. Stereotact Funct Neurosurg. 2019;97(2):132-136. doi:10.1159/000499072

9. Régis J, Hamdi H, Loundou A, et al. Clinical evaluation of a real-time inverse planning
for Gamma Knife radiosurgery by convex optimization: a prospective comparative trial
in a series of vestibular schwannoma patients. Acta Neurochir (Wien).
2021;163(4):981-989. doi:10.1007/s00701-020-04695-x

10. Tuleasca C, Paddick I, Hopewell JW, et al. Establishment of a Therapeutic Ratio for
Gamma Knife Radiosurgery of Trigeminal Neuralgia: The Critical Importance of
Biologically Effective Dose Versus Physical Dose. World Neurosurg. 2020;134:e204-
e213. doi:10.1016/j.wneu.2019.10.021
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