ADNP Kids Research Foundation
  • About
    • What is ADNP
    • Our Story
    • Our Mission
    • Our Team
    • Medical and Scientific Advisory Board
    • 501(c)(3) Determination
    • Inclusivity Statement
  • RESEARCH
    • Research Projects
    • Research Strategy
    • Ketamine Trial
    • Ketamine Trial Publication
    • Ketamine Update
    • Path to a cure
    • NET STUDY
    • publications
  • Families
    • Newly Diagnosed
    • ADNP Patient Registry
    • Contact Registry
    • Understanding the Basics
    • Worldwide Parent Ambassadors
    • contact us
    • ADNP Family Conference >
      • HIGHLIGHTS- ADNP Syndrome Family Conference
      • TSA Travel Help
      • #CureADNP
  • NEWS
    • NET Collaboration Study
    • Ketamine Trial Phase 2 Announcement
    • Mount Sinai Launches First Drug Trial for ADNP Syndrome
    • Seaver Midtown Partnership
    • Biomarker Discovered
    • NEWS - p.Tyr719* Case Study
    • NEWS HIGHLIGHTS- ADNP Syndrome Family Conference
  • ADNP STORE
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MEDICAL & SCIENTIFIC ADVISORY BOARD

The Medical & Scientific Advisory Board (MSAB) serves in an advisory capacity to the ADNP Kids Research Foundation and provides strategic input, insight and expertise to the ADNP Kid's Research Foundation Board of Directors. The mission, goals and advisory role is strategically aligned with the ADNP-KRF.

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Joseph Buxbaum, Ph.D.
​Joseph Buxbaum, Ph.D.
Dr. Joseph Buxbaum is a world-renowned molecular geneticist who has been intimately affiliated with the Seaver Autism Center since joining the faculty at Mount Sinai in 1997. He was the Center's Director of Molecular Genetics for seven years prior to becoming the Director of the Center in 2008. 

Dr. Buxbaum also heads the Laboratory of Molecular Neuropsychiatry and has established the Autism Model Systems Initiative, which makes use of multiple experimental systems to develop and evaluate novel therapeutics in autism.

Additionally, he is the founder and co-leader of the Autism Sequencing Consortium, an international group of scientists who share autism samples, data, and ideas in order to accelerate our understanding of the causes and treatments of autism.

Dr. Buxbaum is a G. Harold and Leila Y. Mathers Professor who has received numerous awards for his research and was elected into the National Academy of Medicine, formerly the Institute of Medicine, in 2015.

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Alex Kolevzon, MD.
​Alexander Kolevzon, MD.
Dr. Alex Kolevzon is a Professor of Psychiatry and Pediatrics at the Icahn School of Medicine at Mount Sinai and serves as the Clinical Director of the Seaver Autism Center and the Director of the Child Behavioral Health and Science Center for the Mount Sinai Health System.

Dr. Kolevzon leads the Experimental Therapeutics Program at the Seaver Autism Center, which conducts studies that range from small pilot trials to multi-centered pivotal FDA studies and are funded internally, through industry, and through the National Institutes of Health. Dr. Kolevzon also leads a national Rare Disease Clinical Research Consortium in Phelan-McDermid syndrome and is the Principal Investigator on the only clinical trial in the United States of a novel therapeutic for this rare disorder.


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Matt Might, Ph.D.
Matt Might, Ph.D.​
Dr. ​Matt Might has been the Director of the Hugh Kaul Precision Medicine Institute at the University of Alabama at Birmingham since 2017. At UAB, Matt is the Hugh Kaul Endowed Chair of Personalized Medicine, a Professor of Internal Medicine and a Professor of Computer Science.

From 2016 to 2018, Matt was a Strategist in the Executive Office of the President in The White House.
In 2015, Matt joined the faculty of the Department of Biomedical Informatics at the Harvard Medical School, first as Visiting Professor and since 2017 as Senior Lecturer.

​Matt is co-founder and Chief Scientific Officer of NGLY1.org, and he was a co-founder and Scientific Advisor to Pairnomix. Q State Biosciences acquired Pairnomix in October 2018 and Matt remains a Scientific Advisor and Board Member.

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Frank Kooy, Ph.D.
Frank Kooy, Ph.D.    
Dr. Frank Kooy is a Professor in Cognitive Genetics at the University of Antwerp in Belgium. 
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His group was the first to discover that mutations in the ADNP gene cause autism in a subset of patients. More recently, Dr. Kooy and his team described a comprehensive overview of the clinical manifestation of ADNP syndrome.  Although ADNP Syndrome is the more common secondary name for the syndrome, it was officially named Helsmoortel Van der Aa syndrome when the disease was originally discovered, named after the PhD student and the clinician from Dr. Kooy's lab.
 
Dr. Kooy is keen on elucidating the mechanism of action of ADNP syndrome in order with time to be able to improve the condition of the patients.

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Yael Weiss, Ph.D. / VP
Yael Weiss | VP Business Development, Ultragenyx
Dr. Yael Weiss received her MD degree from Hadassah Medical School in Jerusalem, and her Ph.D. in molecular genetics from the Weizmann Institute of Science in Rehovot, Israel. After practicing medicine at Sheba Medical Center for several years Yael joined Columbine Ventures and then joined Genzyme Israel as Director of Medical Affairs and Business Development.

In 2004, Yael joined Merck Israel as Medical Director, a role in which she oversaw Merck’s clinical trials and supported the sales and marketing organizations. In 2007 Yael relocated to the SF Bay Area to take the position of Director, External Scientific Affairs and World Wide Licensing, West Coast and later headed the group that evaluates the clinical, regulatory and safety aspects of Merck’s regional deals globally).

Dr. Weiss is VP Business Development for Ultragenyx, a company specializing in development of therapies for the treatment of rare genetic diseases. In Her role Yael is responsible for sourcing and evaluating potential pipeline opportunities for Ultragenyx.

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Saar Oz, Ph.D.
Saar Oz, Ph.D.
Dr Oz, who is a Bio-Med professional, has years of experience working on ADNP in the Gozes Lab during his time at Tel Aviv University where he received his Ph.D. in Neuroscience.

He holds a senior executive position at Ilex Medical (TASE:ILX) Israel’s leading diagnostics company. Prior to joining Ilex, he served in several Research and Development positions in the biomed field, including CORONIS Neurosciences, as well as in technology organizations such as Elbit Systems Ltd..
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Dr. Oz is a former Israeli Air Force pilot. Holds a B.Sc. in bio-informatics from Bar-Ilan University, MBA in Healthcare Innovation from IDC and a Ph.D in neuroscience from Tel Aviv University Sackler Faculty of Medicine.

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Thomas Frazier, Ph.D.
​Dr. Thomas Frazier is a licensed clinical psychologist who received his Ph.D. from Case Western Reserve University in 2004 and joined Cleveland Clinic in 2006.  From 2013-2017 he was the director of the Cleveland Clinic Center for Autism.

In 2017, Dr. Frazier was hired as the Chief Science Officer at Autism Speaks, overseeing all science programs, including the MSSNG project and the Autism Learning Health Network. He is also a Professor of Psychology at John Carroll University.

Over the last decade, Dr. Frazier has maintained an active clinical practice and research programs focused on the evaluation and treatment of neurodevelopment disorders and related conditions. He has published more than 120 scientific papers and has ongoing collaborations across the US and internationally.

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Jacob Eichenberger, MD.
​Jacob Eichenberger, MD
Dr. Jacob Eichenberger is an Assistant Professor of Pediatrics at the Children’s Hospital of Georgia and the Associate Chief Medical Information Officer at Augusta University Health.

Jacob lives in Augusta, Georgia with his wife, Amanda, and five children. He has a diverse educational background that includes receiving undergraduate degrees in mathematics and computer science from Belmont University, graduating with a medical degree from the Indiana University School of Medicine, completing a pediatric residency at the Medical College of Georgia, and attending a fellowship in Clinical Informatics at Vanderbilt University. Jacob is board certified in pediatrics and clinical informatics. In his job as Associate CMIO, Dr. Eichenberger helps to manage changes in the Electronic Health System to improve the delivery of healthcare to patients.

​In June of 2016, Jacob’s fourth child, Zella, was diagnosed with ADNP syndrome.

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Yuhan Sun, Ph.D.
​Yuhua Sun, Ph.D.
 
Dr. Sun is a Professor with the Department of Molecular Biology at the Institute of Hydrobiology Chinese Academy of Sciences. Dr. Sun has worked on recent ADNP projects, primarily focusing on understanding the roles of ADNP in the regulation of gene expression and maintenance of embryonic stem cells, as well as the etiology of ADNP mutation in causing the neurodevelopmental disorders, using both zebrafish and ESC neural differentiation models.
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Dr. Sun’s future interests in ADNP include deepening the understanding of how ADNP (related factors) in the regulation of gene expression by control of epigenome and high-order chromatin structure during neural development as well as the crosstalk of ADNP or ADNP-mediated chromatin mechanisms with signaling pathways, establishing ADNP disease modeling animals and R&D of efficient drugs for treatment of ADNP patients.
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All rights reserved. No portion of the content of this website may be reproduced in any manner without the written permission of the author/creator.   Any information used from this website must also have credit noted to ADNP Kids Research Foundation / www.adnpfoundation.org.
Disclosure: This page represents information known to the best of our knowledge.  Given the sensitivity and fast changing pace of research and drug development, some of the information posted on our website www.adnpfoundation.org may be inaccurate or not complete, therefor this information should be confirmed by the reader. Additionally, the medical information on this website is not substitute for personal diagnosis or medical care advise. Families and patients should consult a medically qualified clinician in all matters relating to genetic diagnosis, disease management and health. Information on ADNP research is a very fast-moving field and while the information here is believed to be the best available at the time of publication, some facts may later be updated or change. Please see additional disclosures on our PRIVACY POLICY page.
  • About
    • What is ADNP
    • Our Story
    • Our Mission
    • Our Team
    • Medical and Scientific Advisory Board
    • 501(c)(3) Determination
    • Inclusivity Statement
  • RESEARCH
    • Research Projects
    • Research Strategy
    • Ketamine Trial
    • Ketamine Trial Publication
    • Ketamine Update
    • Path to a cure
    • NET STUDY
    • publications
  • Families
    • Newly Diagnosed
    • ADNP Patient Registry
    • Contact Registry
    • Understanding the Basics
    • Worldwide Parent Ambassadors
    • contact us
    • ADNP Family Conference >
      • HIGHLIGHTS- ADNP Syndrome Family Conference
      • TSA Travel Help
      • #CureADNP
  • NEWS
    • NET Collaboration Study
    • Ketamine Trial Phase 2 Announcement
    • Mount Sinai Launches First Drug Trial for ADNP Syndrome
    • Seaver Midtown Partnership
    • Biomarker Discovered
    • NEWS - p.Tyr719* Case Study
    • NEWS HIGHLIGHTS- ADNP Syndrome Family Conference
  • ADNP STORE
  • DONATE/SUPPORT
    • Warrior Fun Run 2022 >
      • Past Fun Run Pictures
      • Sponsorship Opportunity
    • Boston Marathon
    • Third Party Fundraising
  • About Us new