<a href="#hui-cai">Hui Cai</a>, VP and Head of Content, WuXi AppTec
<a href="#pat-furlong">Pat Furlong</a>, Founding President &amp; CEO, Parent Project Muscular Dystrophy
<a href="#debra-miller">Debra Miller</a>, CEO &amp; Founder, CureDuchenne
<a href="#filippo-buccella">Filippo Buccella</a>, Founder, Parent Project Italy APS
<a href="#huigu-chen">Huigu Chen</a>, President, Shanghai Jiai Myopathy Care Center, China
<a href="#tali-kaplan">Tali Kaplan</a>, Co-Founder &amp; CEO, Little Steps Association for Patients with Duchenne &amp; Becker Muscular Dystrophy, Israel
<a href="#sherena-loh">Sherena Loh</a>, Director, Muscular Dystrophy Association (Singapore)

 Welcome

<a href="#kevin-flanigan">Kevin Flanigan</a>, Director, Center for Gene Therapy, Professor, Pediatrics &amp; Neurology, Nationwide Children’s Hospital
<a href="#stanley-nelson">Stanley Nelson</a>, Professor of Human Genetics, Center for Duchenne Muscular Dystrophy, David Geffen School of Medicine at UCLA
<a href="#richard-parad">Richard Parad</a>, Associate Professor of Pediatrics, Harvard Medical School, Department of Pediatric Newborn Medicine, Brigham and Women’s Hospital
Moderator: <a href="#hawken-miller">Hawken Miller</a>, Features Writer, BioNews

Clinical Research and Practices 

A Conversation between<a href="#pat-furlong"> Pat Furlong</a>, Founding President &amp; CEO, Parent Project Muscular Dystrophy and<a href="#debra-miller"> Debra Miller</a>, CEO &amp; Founder, CureDuchenne

Patient Story - The Nilson Family 

<a href="#michael-binks">Michael Binks</a>, VP &amp; Head of Clinical Research in the Rare Disease Research Unit at Pfizer
<a href="#paula-clemens">Paula Clemens</a>, Professor &amp; Vice Chair, Neurology, University of Pittsburgh School of Medicine
<a href="#nathalie-goemans">Nathalie Goemans</a>, Professor, Neuromuscular Reference Centre for Children, Department of Pediatric Neurology, University Hospitals Leuven, Belgium
Moderator: <a href="#timothy-franson">Timothy Franson</a>, Principal, Faegre Drinker Consulting and formerly VP Global Regulatory Affairs, Eli Lilly &amp; Co and Chief Medical Officer of YourEncore

What can we do to bring medicines to DMD patients around the world faster? 

<a href="#rhonda-bassel-duby">Rhonda Bassel-Duby</a>, Professor, Department of Molecular Biology, University of Texas Southwestern Medical Center
<a href="#ashish-dugar">Ashish Dugar</a>, SVP &amp; Global Head of Medical Affairs, Dyne Therapeutics
<a href="#jane-larkindale">Jane Larkindale</a>, VP, Clinical Sciences, PepGen
<a href="#art-levin">Art Levin</a>, CSO, Avidity Biosciences
<a href="#stuart-peltz">Stuart Peltz</a>, Founder &amp; CEO, PTC Therapeutics
Moderator: <a href="#richard-soll">Richard Soll</a>, Head of Boston Office and Senior Advisor of Strategic Initiatives, WuXi AppTec

New Targets. New Modalities. New Directions. 

<a href="#michael-binks">Michael Binks</a>, VP &amp; Head of Clinical Research in the Rare Disease Research Unit at Pfizer
<a href="#yi-dai">Yi Dai</a>, Associate Professor, Department of Neurology, Peking Union Medical College Hospital, China
<a href="#xihua-li">Xihua Li</a>, Director, Department of Neuromuscular Disease, Children’s Hospital of Fudan University, China
<a href="#stanley-nelson">Stanley Nelson</a>, Professor of Human Genetics, Center for Duchenne Muscular Dystrophy, David Geffen School of Medicine at UCLA
<a href="#richard-parad">Richard Parad</a>, Associate Professor of Pediatrics, Harvard Medical School, Department of Pediatric Newborn Medicine, Brigham and Women’s Hospital
<a href="#stacey-tay">Stacey Tay</a>, Senior Consultant, Department of Paediatrics, Khoo Teck Puat &#8211; National University Children&#8217;s Medical Institute, National University Hospital, Singapore

10-Year Vision 

<a href="#hui-cai">Hui Cai</a>, VP and Head of Content, WuXi AppTec

Closing 

Dear colleagues and friends,
<div>
Thank you for participating in our global webinar, “Duchenne Muscular Dystrophy: Charting the Path for New Therapeutics and Better Care,” which was co-organized with <a href="https://www.parentprojectmd.org/">Parent Project Muscular Dystrophy (PPMD)</a> and <a href="https://www.cureduchenne.org/">CureDuchenne</a>. We are delighted that more than 1500 registered from 36 countries worldwide, coming together to raise awareness of this devastating rare disease, and to foster collaborations towards better medicines for patients.
For those who registered but couldn’t make it, or who couldn’t stay through the entire webinar, we have prepared a replay link. Please click <a href="https://youtu.be/15LJeOaSGrk">HERE</a> to watch the on-demand video.
At WuXi AppTec, we firmly believe in a future where “every drug can be made and every disease can be treated”. That future is only possible if we all work together.
Thank you again, and we hope to see you at our next episode of WuXi AppTec Rare Disease webinar series.
</div>

1485X973

Dr. Hui Cai joined WuXi AppTec in 2009 as Vice President of Business Development, and is currently Vice President and Head of Content Division.

Prior to WuXi, Dr. Cai spent 10 years at Johnson & Johnson Pharmaceutical Research and Development leading multiple drug discovery programs in the therapeutic areas of inflammation and autoimmune diseases. She is a co-author and co-inventor to over 50 scientific publications and issued or pending patents. Dr. Cai is a Councilor of the American Chemical Society (ACS), a member of BayHelix, and a member of the UCSD Alumni Board. In her past capacity, she served as a Commissioner at the City of San Diego Science and Technology Commission, Chair of SABPA, and President of SDCA. Dr. Cai received her BS and MS in Chemistry from Peking University, PhD from The Scripps Research Institute, and MBA from UCSD Rady School of Management as a DLA Piper – Athena Scholar.

Hui Cai

hui cai

VP and Head of Content, WuXi AppTec 

Pat Furlong is the founding president and chief executive officer of Parent Project Muscular Dystrophy (PPMD), the largest nonprofit organization in the United States focused on Duchenne muscular dystrophy. After her two sons were diagnosed with Duchenne, Ms. Furlong joined other parents to found PPMD in 1994.    The mission of PPMD is to END Duchenne.   PPMD invests in research and has leveraged >500 M, advancing every possible opportunity to accelerate therapy development.  PPMD is focused on three major goals:  impact, influence and change policy.

Since 2000, PPMD has influenced policy – Children’s Health Act, MD CARE Act, Congressionally Directed Medical Research Program (CDMRP), Written Guidance for FDA in 2016 and currently developing draft Guidance to include gene therapy. With the goal of ensuring every single person diagnosed with duchenne or becker have access to optimal care, opportunities to participate in clinical trials and access to therapy.

Ms. Furlong has served on the boards of the Genetic Alliance and the National Organization for Rare Disorders, the National Institutes of Health’s Muscular Dystrophy Coordinating Committee, the Institute of Medicine’s Committee on Pediatric Studies Conducted Under BPCA and PREA, and the U.S. Food and Drug Administration’s Molecular and Clinical Genetics Panel. For her leadership in changing the course of Duchenne, Ms. Furlong was named among the top 50 orphan drug thought leaders by the World Orphan Drug Congress in 2014. She received the 2012 Global Genes | RARE Champion of Hope Advocacy Award and the 2008 Research America Advocacy Award.  She serves on the Board of the ARM foundation and on the Advisory Board of Orphan Disease Center, U. Penn.

Pat Furlong

Founding President & CEO, Parent Project Muscular Dystrophy 

Debra Miller is CEO and Founder of CureDuchenne.  She, and her husband Paul, started the organization in 2002 after their only son, Hawken, was diagnosed with Duchenne.  Debra and her team have brought many firsts to the Duchenne community, including a Duchenne-focused venture philanthropy model, an annual nationwide community education event tour (virtual for now), a Duchenne Physical Therapy Certification program and an open access Biobank.  Debra proudly serves as the Patient Representative on TREAT-NMD’s Executive Committee and reviews Duchenne applications for the Department of Defense’s Congressionally Directed Medical Research Program.  A native Californian, Debra graduated from Mariner’s High School in Huntington Beach and earned a Bachelor of Arts in Communication Studies from the University of California Los Angeles.  Prior to CureDuchenne, Debra had a career in publishing with positions at IDG Communications, Cahners Publishing, Ziff-Davis Publishing, and Scholastic Publishing.  She also worked in management at PC Magazine and was an independent stock trader.

Debra Miller

Debra-Miller

CEO & Founder, CureDuchenne 

As the father of a young man affected by Duchenne, Filippo, in 1995, founded Parent Project, an association to advocate in Italy for Duchenne and Becker patients. Filippo always believed that Parent Project’s work could open a new path for many other similar diseases and conditions. In his past role as president of Parent Project in Italy, he established good working relationships with many other organizations worldwide. This network proved invaluable when he was on the executive committee of the TREAT-NMD Alliance and the United Parent Project Muscular Dystrophy. Filippo is keen to continue his work to amplify the voice of patients as key stakeholders and collaborate with patient organizations to represent their views. Filippo is also a pharmacist. His knowledge of the mechanisms of action of drugs and drug development is beneficial for translating complicated topics for families and patients. Since the beginning, he has been working with patient registries. He set up a national DMD/BMD patient registry in Italy, instrumental in conducting clinical trials.

Filippo Buccella

Founder, Parent Project Italy APS 

Huigu Chen

陈慧谷

President, Shanghai Jiai Myopathy Care Center, China 

Tali Kaplan is co-founder and CEO of Little Steps, an Israeli NGO founded in 2010 by parents of children with Duchenne and Becker muscular dystrophy. Tali is the proud mother of Ido, a 13-year-old boy that was diagnosed with Duchenne when he was only 1 year old. 

Little Steps mission is to improve the life quality of patients with DMD/BMD and extend their life expectancy. 

Ido's diagnosis of a rare and incurable disease led Tali to leave her previous job as an economist in high-tech companies and establish the association together with Ziva Goldschmidt, the mother of Adi who also suffers from the disease. 

The decisions Tali and Ziva had taken was to enrich the knowledge of the families about the disease, establish contacts with Duchenne organizations around the world to learn and share knowledge, and to set up a support system by social workers who will help families from the first phase of diagnosis and throughout dealing with the disease challenges. 
At the same time, Tali was working to build a registry of the patients as a platform to bring research to Israel, made connect with researchers to raise funds to find a cure.

Tali is a member of the Board of Directors of the Coalition for Rare Diseases in Israel and in international forums for promoting the treatment and research.
Tali believes that collaborations in Israel and around the world are the key to advancing knowledge and treating the disease. 

Tali Kaplan

Co-Founder & CEO, Little Steps Association for Patients with Duchenne & Becker Muscular Dystrophy, Israel 

Sherena Loh is a Co-Founder and Director of Muscular Dystrophy Association (Singapore).  She is an ardent champion for the mobility challenged. She is a wheelchair-user because she has muscular dystrophy. 
  
Sherena was once told that she would not live beyond 25 years old. But her heart proved stronger than her muscles.  She has been volunteering with disability organisations and collaborating with government agencies for more than two decades, transforming the quality of life for people who are differently-abled. 
  
Sherena holds a Bachelor of Social Science from Edith Cowan University, Australia, as well as a Diploma of Family Life Education and a Diploma in Business Administration.  She is the author of Shaped For A Purpose.

Sherena Loh

Director, Muscular Dystrophy Association (Singapore) 

Kevin Flanigan, M.D., is the Director of The Center for Gene Therapy at Nationwide Children’s Hospital in Columbus, Ohio, where he holds the Robert F. & Edgar T. Wolfe Foundation Endowed Chair in Neuromuscular Research.  He directs the NCH Neuromuscular Program as well as Nationwide Children’s NIAMS P50-funded Center for Research Translation (CORT) in Muscular Dystrophy Therapeutic Development.  He trained in Neurology & Neuromuscular Medicine at Johns Hopkins University, pursued a post-doctoral fellowship in Human Molecular Biology and Genetics at the University of Utah, and currently holds appointments as Professor of Pediatrics and Neurology at the Ohio State University.  His research focuses on genotype/phenotype correlations in the muscular dystrophies, with a goal of understanding molecular mechanisms that lead to amelioration of symptoms in order to identify new therapeutic pathways.  He has served as sponsor-investigator on trials of AAV gene replacement therapy for mucopolysaccharidosis types 3A and 3B, as well as a surrogate gene therapy for Duchenne muscular dystrophy (DMD). His laboratory works primarily on AAV-based approaches to gene therapy, including viral-vector based exon skipping and gene replacement, including a U7snRNA therapy for DMD now in clinical trial.  

Kevin Flanigan

Flanigan

Director, Center for Gene Therapy, Professor, Pediatrics & Neurology, Nationwide Children’s Hospital 

Stanley F. Nelson, MD is a physician scientist who develops and implements genomic tools to facilitate mutation discovery, improve molecular diagnostics for rare diseases, and performs translational research related to Duchenne muscular dystrophy. His work has led to the identification of dozens of gene mutations causing human disease and novel approaches to diagnosis.  He graduated from Duke University School of Medicine in 1987, and subsequently trained in Pediatric Hematology-Oncology at UCSF.  He completed postdoctoral fellowship in 1993 at Stanford University in genomics with Dr. Patrick Brown.  He is Professor of Human Genetics, Pediatrics, Neurology and Pathology and Laboratory Medicine at the David Geffen School of Medicine at UCLA where he has been faculty since 1993.  He established the first genomics core at UCLA in 1996. He is Founder in 2007 and Co-Director of the Center for Duchenne Muscular Dystrophy which is a multi-investigator program encompassing graduate and undergraduate education, basic and translational research, clinical care, and clinical trials for Duchenne at UCLA. In 2011, he founded the Clinical Genomics Center, with others, which develops and implements clinical genomic testing and established clinical exome sequencing at UCLA. He is a PI since 2014 of a Clinical Site of the Undiagnosed Diseases Network, at UCLA which performs discovery of new rare diseases and implementing improvements in transcriptome analysis to augment whole genome sequencing.   Since, 2019 he is Director of the California Center for Rare Diseases.  

Stanley Nelson

Stanley F Nelson

Professor of Human Genetics, Center for Duchenne Muscular Dystrophy, David Geffen School of Medicine at UCLA 

Dr. Parad is an attending neonatologist, dual boarded in Neonatal-Perinatal Medicine and Pediatric Pulmonology, and an Associate Professor of Pediatrics at Harvard Medical School.  He also received training in clinical trial design at the Harvard School of Public Health. He is an NIH-funded translational scientist with expertise in neonatal respiratory drug development, newborn screening and genomic medicine. He is currently Director of the Department of Pediatric Newborn Medicine’s Neonatal Genomic Medicine Program.

Richard Parad

Associate Professor of Pediatrics, Harvard Medical School, Department of Pediatric Newborn Medicine, Brigham and Women’s Hospital 

Hawken Miller is a writer, journalist, producer, and Duchenne muscular dystrophy advocate. He is currently a features writer for BioNews, where he tells stories about people making a difference in the rare disease community. A former intern on The Washington Post’s video game and esports desk, Launcher, Hawken helps produce their weekly live streams. Hawken is also a research producer at Paragon Creative Agency, where he produces two Call of Duty League YouTube shows. He is a spokesperson and speaker for the research-and-care-focused organization, CureDuchenne, founded by his parents, Paul and Debra Miller. Hawken was diagnosed with Duchenne at 5 years old in 2002 but hasn’t let that stop him from becoming an Eagle Scout, graduating with honors from the University of Southern California in 2019, or working and interning at prestigious news organizations like The Sacramento Bee, KTLA 5 News, and the Orange County Register. When he isn’t working, Hawken enjoys being active in his church community, livestreaming on his Twitch channel, TheHawkLive, and playing with his six-year-old rescue pit bull-border collie mix, Patch. 

Hawken Miller

Features Writer, BioNews 

Michael is the VP and head of Clinical Research in the Rare Disease Research Unit at Pfizer, based in Cambridge, MA. He has 2 decades of experience in the discovery, translation and early clinical development of therapeutics of multiple modalities in rare and common disease. For the past 7 years he has been involved in drug development programs in Duchenne muscular dystrophy, most recently as the program lead for DMD gene therapy. Michael is a UK trained physician (MRCP) and an accredited specialist in Rheumatology.


Michael Binks

VP & Head of Clinical Research in the Rare Disease Research Unit at Pfizer 

Paula Clemens is a clinician and scientist at the University of Pittsburgh. She has expertise in the care of adults with neuromuscular diseases such as Duchenne and Becker muscular dystrophy, myotonic dystrophy, spinal muscular atrophy and late-onset Pompe disease. Her primary research focus is translational approaches that advance the understanding and treatment of genetic muscle disorders, including Duchenne and Becker muscular dystrophy and late-onset Pompe disease. In addition to her university-based practice and research efforts, she directs the Neurology Division at the VA Pittsburgh Healthcare System.

She has been a member of CINRG and a site PI since its founding in 2000. She has been Medical Director since 2010.

Paula Clemens

Dr Paula Clemens

Professor & Vice Chair, Neurology, University of Pittsburgh School of Medicine 

Nathalie Goemans is a paediatrician and child neurologist, with certification in rehabilitation medicine, affiliated to the  KUL University of Leuven, currently emeritus since November 2020. She was a staff member since 1987 at the University Hospitals Leuven, Belgium, as head of clinic within the department of Pediatrics (Child Neurology)  and head of the Neuromuscular Reference Centre for Children at the University Hospitals Leuven, and assistant professor at the Faculty of Medicine, University of Leuven, Belgium. She is a consultant at  DVC  Heder, Antwerp, Belgium, a rehabilitation centre with residential setting for neuromuscular patients.

She is actively involved in national and international research networks, with a particular interest in the multidisciplinary aspects and the dissemination of standards of care in neuromuscular disorders and the development of international registries. Research activities involve translational and clinical research in various neuromuscular disorders, the development of new therapies for Duchenne muscular dystrophy and spinal muscular atrophies and the research and development of outcome measures to assess interventions in these diseases. 

Nathalie Goemans

NGoemans

Professor, Neuromuscular Reference Centre for Children, Department of Pediatric Neurology, University Hospitals Leuven, Belgium 

Dr. Tim Franson serves as Principal at Faegre Drinker Consulting since 2019. He was Senior Vice President at Baker and Daniels Consulting (later Faegre Baker Daniels Consulting) from 2009-2014, then served as chief medical officer at YourEncore from 2014 to 2019. He also served as VP of global regulatory affairs at Lilly from 2003 to 2008, retiring from that position after 21 years at Lilly. From 1997 to 2003, he served as Lilly’s VP of clinical research and regulatory affairs.

Franson provides clinical and regulatory guidance for drug and biologics development (including strategy, planning, training and issues management), post-approval advice (REM's, labeling and compliance) and due diligence. During his time at Lilly, Tim was directly responsible for the company’s FDA submissions (NDAs and supplements), which involved more than 20 major submission reviews and approvals. He also played a leadership role in regulatory compliance and policy matters.

Tim has worked to advance the objectives of various rare disease communities. He sat on the steering committee for the Duchenne Patient Community Draft Guidance submitted to the FDA, served as an advisor to the ALS Community Draft Guidance to the FDA, and advised the Lupus community in the externally led FDA patient-focused drug development (PFDD) workshop, as well as serving as moderator for the 2019 FDA externally facilitated PFDD public meeting for the Niemann Pick Type C disease community. He also served on the NIH-NCATS Treatment of Rare Diseases (TRND) review panel.

Tim has been a leader in many legislative and regulatory initiatives impacting the pharmaceutical and health and biosciences industries. He was co-chair of the joint FDA-industry working group addressing clinical aspects of the FDA Modernization Act of 1997, including the Prescription Drug User Fee Act (PDUFA) renewal. From 2000 to 2003, he co-chaired industry FDA committees for PDUFA-3 renewal and has testified, on behalf of industry stakeholders, at several congressional hearings.

Franson is past President of the US Pharmacopeial (USP) Convention (2010-2015) and immediate past Board Chair of the Critical Path Institute, as well as a Board member of Paratek Pharmaceuticals, Cidara Therapeutics, the AMPATH Development Board for the IU Global Health Program, and the Executive Leadership Board for the University of Iowa College of Pharmacy. He serves as Adjunct Professor of Medicine at Indiana University School of Medicine.
Tim has authored more than 50 articles in the fields of regulatory affairs, infectious disease, epidemiology, pharmacoeconomics and antibiotic utilization.

Timothy Franson

Franson_Timothy

Principal, Faegre Drinker Consulting and formerly VP Global Regulatory Affairs, Eli Lilly & Co and Chief Medical Officer of YourEncore 

Rhonda Bassel-Duby, Ph.D. is a Professor of Molecular Biology, and an Associate Director of the Hamon Center for Regenerative Science and Medicine at the University of Texas Southwestern Medical Center. She is also a Principal Investigator of the Senator Paul D. Wellstone Muscular Dystrophy Specialized Research Center at UT Southwestern, recently awarded by the NIH.

Dr. Bassel-Duby grew up in Montreal Canada, and received her Ph.D. degree in Biochemistry from McGill University in  Montreal, Canada. She trained at Harvard Medical School and University of Texas Southwestern Medical Center.

Over the past two decades, her research focused on the molecular mechanisms governing cardiac and skeletal muscle growth, development and disease.
Recently, she has been involved in using CRISPR/Cas9-mediated genomic editing to correct mutations in Duchenne muscular dystrophy.

Over the years, she has mentored many graduate students and postdoctoral fellows, and has co-authored over 190 publications in peer-reviewed journals.

She is a member of numerous institutional committees, including being the Chairperson of the ARC Advisory Committee plus a member of the Stem Cell Research Oversight Committee.

Additionally, she has served on NASA Musculoskeletal Biology Review Panels, NIH Study Sections and has been a Chairperson of an American Heart Association Review Consortium Committee. She also served on the American Heart Association Advisory Research Committee. 

Fun fact: She loves to dance with her NIA (Neuromuscular Integrative Action) dance group (virtually these days) and do virtual yoga and Pilates. 

Rhonda Bassel-Duby

Bassel-Duby

Professor, Department of Molecular Biology, University of Texas Southwestern Medical Center 

Dr. Dugar brings to Dyne over 20 years of broad experience across medical affairs, clinical and commercial development, and real-world evidence (RWE) generation. Prior to joining Dyne, Dr. Dugar served as vice president and global head of medical affairs at Sarepta Therapeutics, Inc., where he built the company’s medical affairs organization. Previously, he led all commercial and market access efforts for Intra-Cellular Therapies, Inc. as vice president and head of commercial development. Dr. Dugar joined Intra-Cellular Therapies following his tenure at Roche, where he was global head of clinical development science and innovation and global head of the external development group, including work in oligonucleotides. Previously, he spent 13 years at Pfizer Inc. in various roles, most recently serving as vice president, global head of clinical development and medical affairs of the biosimilars business unit. Dr. Dugar began his career at the National Institutes of Health. He completed a pharmacoeconomics and outcomes research fellowship at the University of Michigan School of Public Health. Dr. Dugar earned an MBA from The Pennsylvania State University and a Ph.D. in pharmacology from The Pennsylvania State University College of Medicine.

Ashish Dugar

SVP & Global Head of Medical Affairs, Dyne Therapeutics 

Jane Larkindale is the Vice President of Clinical Science at PepGen, a company developing enhanced delivery oligonucleotide therapeutics with lead programs in Duchenne muscular dystrophy and myotonic dystrophy.  She has dedicated the past 15 years of her career to accelerating therapy development for rare diseases, with a focus on neuromuscular diseases.  She launched and ran international consortia and programs focused on data standardization and aggregation, and use of that data to support regulatory acceptance of disease models, outcome assessments and biomarkers to accelerate drug development. She conceived of and subsequently led the Rare Disease Cures Accelerator, Data and Analytics Platform and multiple disease specific consortia at the Critical Path Institute, as well as programs at the Friedreich’s Ataxia Research Alliance and the Muscular Dystrophy Association, all with the goal of accelerating rare disease drug development. These programs have built community consensus on best practices for drug development, and formal regulatory endorsement of several tools is underway.  She launched and ran MDA Venture Philanthropy in 2007, which supported and guided 21 drug development projects through pre-clinical and early clinical phases of development, leaving MDA as the Vice President for Research in 2014.  She went on to form NMD Consulting to support research and clinical strategy to accelerate drug development and worked with a multitude of for-profit and not-for-profit clients. She is a molecular biologist by training, having completed her D.Phil. (Ph.D.) in the Department of Plant Sciences at Oxford University, which she attended on a Rhodes Scholarship. 

Jane Larkindale

Jane MOO

VP, Clinical Sciences, PepGen 

Art Levin is a key opinion leader in the RNA therapeutics field. He serves as the Chief Scientific Officer at Avidity Biosciences Inc. Previously, he held Senior levels positions at mRiragen, Santaris Pharma, and Ionis Pharmaceuticals. He played key roles in developing numerous oligonucleotides, including the first approved antisense drugs and the first microRNA-targeted therapeutic in clinical trials. He has three decades of experience in drug development from discovery through drug registration. Dr. Levin has published over 60 scientific articles and several of the most cited reviews in the field. He is on the scientific advisory boards of multiple institutions. Dr. Levin received a doctorate in toxicology from the University of Rochester.

Art Levin

CSO, Avidity Biosciences 

Dr. Peltz founded PTC Therapeutics in 1998 and has served as CEO and a member of the Board of Directors since the company’s inception. Under his leadership, PTC has grown from a research organization into a global, publicly traded, fully-integrated biotech company with multiple approved products.  PTC’s hallmark is its deep commitment to science, employing multiple technology platforms to drive a robust discovery pipeline in support of Patients with rare disorders around the world.

Prior to founding PTC, Dr. Peltz was a Professor in the Department of Molecular Genetics & Microbiology at the Robert Wood Johnson Medical School, Rutgers University. Dr. Peltz is a recognized scientific leader in RNA biology in the area of post-transcriptional control processes involving mRNA turnover and translation, with more than 30 years of research and over 100 publications in the field.  Dr. Peltz was elected as a Fellow of the American Academy for the Advancement of Science in 2010. He was recognized as PharmaVOICE’s 100 Most Inspiring People in 2009 and received the Dr. Sol J. Barer Award for Vision, Innovation and Leadership in 2014.
 
Dr. Peltz received a Ph.D. from the McArdle Laboratory for Cancer Research at the University of Wisconsin.

Stuart Peltz

Founder & CEO, PTC Therapeutics 

Dr. Richard Soll is presently Senior Advisor, Strategic Initiatives for the Research Service Division at WuXi AppTec and Head of the WuXi office in Boston, Massachusetts. He has held various leadership roles at WuXi as Senior Vice President including head of the medicinal chemistry unit known as the International Discovery Service Unit, business development, and corporate alliances.

Dr. Soll’s contributions led to the discovery of the HCV NS5A inhibitor elbasvir (a component of Zepatier®) in the Merck-WuXi partnership, the JAK2 inhibitor fedratinib at TargeGen which formed the basis of the $7B partnership between Celgene and Impact Biomedicines, and more than 10 other clinical stage drugs throughout his career.

Dr. Soll is currently a board member at Simcha Therapeutics, an board observer at the Accelerator Life Science Parnters, and an advisory board member with the Blavatnik Center for Drug Discovery at Tel Aviv University, the Children’s Tumor Foundation, and the Pistoia Alliance.

Dr. Soll was CSO / VP of R&D at TargeGen and was VP of Chemistry at 3-Dimensional Pharmaceuticals. He started his career at Ayerst Research Labs and was trained as a synthetic chemist at Dartmouth and Harvard.

Richard Soll

Richard-Soll

Head of Boston Office and Senior Advisor of Strategic Initiatives, WuXi AppTec 

Yi Dai

戴毅

Associate Professor, Department of Neurology, Peking Union Medical College Hospital, China 

Xihua Li

李西华

Director, Department of Neuromuscular Disease, Children’s Hospital of Fudan University, China 

A/Prof Stacey Tay is a senior consultant paediatric neurologist with a special interest in neurogenetics, neuromuscular disorders and neurodegenerative disorders of childhood. She obtained her basic MBBS medical degree with honours in 1994, and went on to obtain her postgraduate paediatric degrees in 1997. She won the NUH Young Doctor’s Award in 2001 for her research in Duchenne Muscular Dystrophy. She was on a clinical and research Child Neurology fellowship from 2002–2004 at Columbia University, New York, and worked as a fellow in the Children’s Hospital of New York. 

She anchors multidisciplinary neuromuscular and neurogenetic clinics in NUH and works with community partners like Ronald McDonald House Charities and Muscular Dystrophy Association Singapore to bridge hospital and community care.

Stacey Tay

Senior Consultant, Department of Paediatrics, Khoo Teck Puat - National University Children's Medical Institute, National University Hospital, Singapore 

Events

Featured

DMD: Charting the Path for New Therapeutics and Better Care

<a href="#hui-cai">Hui Cai</a>, Program Chair, VP and Head of Content, WuXi AppTec
<a href="#katie-clapp">Katie Clapp</a>, President &amp; Co-Founder, FRAXA Research Foundation

Welcome

<a href="#katie-clapp">Katie Clapp</a>, President &amp; Co-Founder, FRAXA Research Foundation
<a href="#alison-singer">Alison Singer</a>, President, Autism Science Foundation
<a href="#wendy-bruce">Wendy Bruce</a>, Executive Director, Fragile X Association of Australia
<a href="#yinan-ma">Yinan Ma</a>, VP, Fragile X Association of China
<a href="#karen-kelm">Karen Kelm</a>, Board Member, Fragile X Foundation of Canada
<a href="#shalini-kedia">Shalini Kedia</a>, Chairperson, Fragile X Society – India
<a href="#sabrina-muggiati">Sabrina Muggiati</a>, Creator of the Eu Digo X Program – Brazil
<a href="#paula-gómez-ortega">Paula Gómez Ortega</a>, Coordinator, Fragile X Syndrome Parent&#8217;s Group – Argentina
<a href="#sandz-fraser">Sandz Fraser</a>, Coordinator, Fragile X South Africa; Owner &amp; Trustee, FiX Africa Special Needs Homeschool
<a href="#nazhi-tabatadze">Nazhi Tabatadze</a>, Clinic coordinator at Fragile X Center, Georgia
<a href="#andrea-lee">Andrea Lee</a>, Executive Director, Fragile X New Zealand

Collaboration and the voices of the patient advocacy groups 

<a href="#craig-erickson">Craig Erickson</a>, Professor of Clinical Psychiatry, Cincinnati Children&#8217;s Hospital and the University of Cincinnati College of Medicine
<a href="#randi-hagerman">Randi Hagerman</a>, Medical Director, MIND Institute; Distinguished Professor of Pediatrics, Endowed Chair, Fragile X Research, UC Davis Health
<a href="#elizabeth-berry-kravis">Elizabeth Berry-Kravis</a>, Professor of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center
Moderator: <a href="#ted-brown">Ted Brown</a>, President, Fragile X Association of Australia

Current clinical studies and practice

Patient story: 3 Australian families

<a href="#neil-thompson">Neil Thompson</a>, CSO, Healx
<a href="#mark-bear">Mark Bear</a>, Professor of Neuroscience, Picower Institute for Learning and Memory, MIT
<a href="#mark-gurney">Mark Gurney</a>, Chairman &amp; CEO, Tetra Therapeutics
<a href="#walter-kaufmann">Walter Kaufmann</a>, CMO, Anavex Life Sciences; Adjunct Professor of Human Genetics, Emory University
<a href="#charles-large">Charles Large</a>, CEO, Autifony Therapeutics
Moderator:<a href="#richard-soll"> Richard Soll</a>, Head of Boston Office and Senior Advisor of Strategic Initiatives, WuXi AppTec

New directions in Fragile X Syndrome therapeutics

Patient story: The Goss family

<a href="#michael-tranfaglia">Michael Tranfaglia</a>, Medical Director &amp; CSO, FRAXA Research Foundation
<a href="#alison-singer">Alison Singer</a>, President, Autism Science Foundation
<a href="#nahum-sonenberg">Nahum Sonenberg</a>, Professor &amp; Gilman Cheney Chair in Biochemistry, Goodman Cancer Research Centre, McGill University
<a href="#peter-kind">Peter Kind</a>, Director, Simons Initiative for the Developing Brain, Patrick Wild Centre; Professor of Developmental Neuroscience, University of Edinburgh
<a href="#sumantra-chattarji">Sumantra Chattarji</a>, Senior Professor, National Centre for Biological Sciences, Tata Institute of Fundamental Science, Bangalore, India
<a href="#patricia-cogram">Patricia Cogram</a>, Associate Professor, Department of Genetics, IEB, Faculty of Science, University of Chile
<a href="#shangzhi-huang">Shangzhi Huang</a>, Professor of Medical Genetics, Peking Union Medical College
<a href="#elizabeth-berry-kravis">Elizabeth Berry-Kravis</a>, Professor of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center

10-year vision 

<a href="#hui-cai">Hui Cai</a>, Program Chair, VP and Head of Content, WuXi AppTec

Closing

Dear colleagues and friends,
A global webinar titled “Fragile X Syndrome: In Pursuit of a Cure,” took place on July 22 to commemorate World Fragile X Day. This complimentary event is co-organized with <a href="https://www.fraxa.org/">FRAXA Research Foundation</a>. We are delighted that more than 5,000 registered from more than 50 countries worldwide, coming together to raise awareness of this devastating rare disease, and to foster collaborations towards better medicines for patients.
Please click the top banner or <a href="https://youtu.be/l1_UlXGO3Xc">here</a> to enjoy the on-demand video.
At WuXi AppTec, we firmly believe in a future where “every drug can be made and every disease can be treated”. That future is only possible if we all work together.

WXPRESS1485X973

Program Chair, VP and Head of Content, WuXi AppTec 

In 1994, after her son Andy was diagnosed with Fragile X, Katie Clapp, her husband Michael Tranfaglia, and a third parent founded FRAXA Research Foundation to find a cure for Fragile X syndrome. Katie has a BA in History from Harvard University and a Masters degree in Computer Science from UNC Chapel Hill. She worked as a software engineer and college instructor in computer science before founding FRAXA. She has won a number of prizes for her work at FRAXA, including a Community Hero award from the American Red Cross and a Women of Justice award from Massachusetts Lawyers Weekly.

Katie Clapp

President & Co-Founder, FRAXA Research Foundation

Alison Singer is Co-Founder and President of the Autism Science Foundation, a non-profit organization dedicated to funding innovative autism research and supporting the needs of people with autism. As the mother of a 23-year-old daughter with autism and legal guardian of her older brother with autism, she is a natural advocate. Singer served on the federal Interagency Autism Coordinating Committee (IACC) for 12 years, where she chaired the Safety and Housing Workgroups, and served on the subcommittee responsible for writing an annual strategic plan to guide federal spending for autism research. She currently serves on the executive boards of the Yale Child Study Center, the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai, the Marcus Autism Center at Emory University, and the University of North Carolina Autism Research Center, as well as on the external advisory board of the CDC’s Center for Developmental Disabilities, and the New York State Immunization Advisory Committee. In addition, Singer serves on the board of directors of the International Society for Autism Research (INSAR) and chairs the INSAR Communications Committee. In 2012, the American Academy of Pediatrics named her an “autism champion.”  In 2017 she received the INSAR “Outstanding Research Advocate” award and in 2018 she received the New York Families for Autistic Children Research Advocacy Award.  

Prior to founding the Autism Science Foundation in 2009, she served as executive vice president of Autism Speaks and as a vice president at NBC. She graduated magna cum laude from Yale University with a B.A. in Economics and has an MBA from Harvard Business School. In 2020, she was awarded an honorary doctorate from Emory University. 

In 2018 she was elected to serve on the Board of Education of the Scarsdale Union Free Public School district and in 2020 was elected Vice President of the BOE. In her free time, she enjoys Crossfit, kickboxing, and judging high school debate tournaments. 

Alison Singer

singer

President, Autism Science Foundation

Wendy joined Fragile X Association of Australia in 2013.  Wendy is passionate supporter and advocate for the Fragile X community.  She is keen to raise awareness of Fragile X conditions and to influence public policy change in the areas of testing, diagnosis and treatments related to Fragile X-associated conditions.  Before joining the organisation, Wendy worked in the area of knowledge management with several large professional services firms. She also has wide experience with small member-based community organisations, working in management and volunteer Board roles. Wendy currently serves as a volunteer director on the board of Genetic Alliance Australia, a not-for-profit organisation which provides information and peer support to individuals affected by rare genetic conditions. Wendy has a Bachelor of Social Science from RMIT University in Australia. Members of Wendy’s extended family are affected by Fragile X.

Wendy Bruce

Executive Director, Fragile X Association of Australia

Yinan Ma

Weinan Ma

VP, Fragile X Association of China

“It is comforting to know that someone else understands the journey you are on” 
For over 15 years, Karen Kelm has been a significant leader in advocacy, support, and education for families and health care providers related to Fragile X syndrome in Canada. Based in Calgary, Alberta, Karen continues to build communities and networks between parents and health professionals while raising three children diagnosed with Fragile X syndrome.

Currently, Karen is a graduate student at the University of Alberta working towards her Master of Science in Pediatrics. Her current research focuses on Fragile X syndrome, helping to improve care coordination and communication between health care providers and families. 

Karen is on the Board of Directors of the Canadian Fragile X Foundation sharing her vision and experiences to inspire forward momentum in family advocacy and support while including research. She also serves as a member of the Canadian Intellectual Disability (CANID) Network helping to understand intellectual disabilities and supporting collaboration between clinicians, researchers and families in Canada. Additionally, understanding the impact sport has on inclusion and acceptances, Karen volunteers as the manager and off-ice ambassador of Ringette for All Calgary. 

Along with her notable speaking engagements across Canada, Karen frequently educates medical students and health care professionals about Fragile X syndrome and the impact on families and care providers.   

“I am inspired by the journey I am on and the people around me. But most notably I am inspired by my three children, Noah, Sydney, and Ty and my husband Mike.” 

Karen Kelm

Board Member, Fragile X Foundation of Canada

Shalini founded the Fragile X Society of India in 2003 to provide a support for families whose children were impacted with Fragile X Syndrome. 

In a short span the number of families grew to over 100 and we saw some families with more than 2 and 3 children affected. This highlighted the need to create awareness about Fragile X and related disorders.

We held India’s first international conference on Fragile X and Autism in 2007 and it was a paradigm shift for India. Today we have more than 2000 families we have supported and a robust networking throughout India of parents and professionals. 

We are constantly striving to create awareness for Fragile X and related disorders. An accurate diagnosis opens doors for the child and empowers families to make informed medical decisions for their next child. 


Shalini Kedia

Chairperson, Fragile X Society – India

Creator of the Eu Digo X Program, businesswoman and mother of a X Fragile teenager, acts in support of the registered families of the program.
 
The Eu Digo X Program was created to disseminate information about the Fragile X Syndrome, expanding knowledge and sensitizing the Brazilian population to the cause.

Sabrina Muggiati

Creator of the Eu Digo X Program – Brazil

I am Paula, Antonio's mum. Antonio is 26 years old, he was diagnosed with FXS 20 years ago. We live in Argentina. In 2008, after coming back from a Fragile X Family Meeting in Spain, I decided to re-found the Fragile X Syndrome Parent´s Group in Argentina. Together with another mum, María Silvia Garone, we started this journey and today we are near 120 families. Among many, our objectives include awareness of the syndrome's characteristics, supporting new parents and organizing sessions with professionals and family groups from the USA and Europe.

Paula Gómez Ortega

Coordinator, Fragile X Syndrome Parent's Group – Argentina

I am supposed to be a retired Accountant and educator but instead I find myself the proud “Granny Mom” of a 14 year old FXS boy. The African continent is unaware of Fragile X and yet it affects generations. Learning about Fragile X over 10 years ago has been a wild ride. Lack of knowledge and finding experts in the field contributes to you becoming an FXI agent. No adequate schooling facilities were found in Gqeberha so the only way to get my grandson educated to the best of his ability was to return to education and open up a Special Needs School. FiX Africa was birthed. Together with Gwen Hedges, mother to Kevin (FXS) we co-ordinate and advocate for parents and families with Fragile X in South Africa and the Mountain Kingdom of Lesotho.

Sandz Fraser

Coordinator, Fragile X South Africa; Owner & Trustee, FiX Africa Special Needs Homeschool

I`m Nazi Tabatadze, a pediatrician with a special interest in developmental pediatrics and genetic-metabolic disorders, from Tbilisi, Georgia. 

In 2017 I and my colleagues conducted a pilot study and tested 250 patients with autism spectrum disorder and intellectual disabilities. This study yielded 11 positive results for Fragile X syndrome. We presented the results of our study at a Fragile X conference in Belgrade, Serbia, where I had an opportunity to meet NFXF team.

In 2020 Fragile X Center was established in Georgia and became affiliated to the Fragile X Clinical & Research Consortium. Soon after Fragile X syndrome Georgia – a parent organization was founded. 

Till now our team participated in Fragile X conferences and webinars and organized local meetings as well as meetings with the parent organization of other countries.
As the field of my professional interest is rare diseases I`m focused on raising awareness about genetic and metabolic disorders, supporting of parent organizations to ensure that patients in Georgia receive the best possible care. 


Nazhi Tabatadze

Clinic coordinator at Fragile X Center, Georgia 

Andrea Lee is the Executive Director of Fragile X New Zealand (FXNZ) and the parent of a teenager with fragile X. She has BA degree in Sociology and has worked in the education and disability sector, internationally and in New Zealand (NZ), for the past 20 years. Andrea runs the Fragile X Education Workshop in schools in NZ, and together with Anita Nicholls, in collaboration with Dr Martyn Matthews, developed and wrote the FXNZ online Fragile X Parent Education Programme. Andrea is also the chairperson of the National Board for Parent to Parent NZ Inc.

Andrea Lee

andrea_circle

Executive Director, Fragile X New Zealand 

Craig A. Erickson, MD is a Professor of Psychiatry at Cincinnati Children’s Hospital Medical Center and the University of Cincinnati College of Medicine-Affiliated. Dr. Erickson leads a neurodevelopmental clinical and research group focused on improving clinical care through research discovery. He is the Director of the Cincinnati Fragile X Research and Treatment Center which is one of the largest such programs in the world. He serves as the Chair of the Clinical Trials Committee organized by the National Fragile X Foundation and is a leader in translational medicine efforts in fragile X syndrome, autism, and related disorders.  

Craig Erickson

Professor of Clinical Psychiatry, Cincinnati Children's Hospital and the University of Cincinnati College of Medicine

Randi Hagerman, M.D., FAAP, is a developmental and behavioral pediatrician, a Distinguished Professor of Pediatrics and the Medical Director of the MIND Institute at UC Davis. She is internationally recognized as both a clinician and researcher in the fragile X field. Hagerman received her M.D.  from Stanford University, where she also carried out her Pediatric residency. She completed a  Fellowship in Learning and Disabilities and Ambulatory Pediatrics at UC San Diego, then led  Developmental and Behavioral Pediatrics at the University of Colorado for 20 years. She co-founded the National Fragile X Foundation in 1984. In 2000, Hagerman joined the MIND Institute. There, she and her team discovered the Fragile X-associated Tremor/Ataxia Syndrome (FXTAS). Hagerman’s research involves genotype-phenotype correlations in fragile X and she collaborates on this research with her husband, Paul Hagerman. Hagerman has written over 400 peer-reviewed articles and numerous book chapters on neurodevelopmental disorders, as well as edited several books on fragile  X including a 2020 book edited by Hagerman and Hagerman titled Fragile X Syndrome and Premutation  Disorders published by MacKeith press, London. 

Hagerman has received numerous awards for her research including the Jerrett Cole Award from the  National Fragile X Foundation for unselfish dedication in working with fragile X children and adults, the Bonfils-Stanton Foundation Award for Science including Medicine, the IASSID Distinguished Achievement Award for Scientific Literature, the 2005 and 2014 Distinguished  Scholarly Public Service Award from UC Davis. In 2004, to honor both Randi and Paul Hagerman in recognition of their work in FXTAS, the National Fragile X Foundation established the Hagerman Award that recognizes research accomplishments in the field of FXTAS and is given at the bi-annual International Conference on Fragile X. In 2008, the National Fragile X Foundation again honored Hagerman with a Lifetime Achievement Award. In 2014 she received the C Anderson Aldrich Award for Outstanding Career Achievement from the AAP; in 2014 the International Sisley-Jerome Lejeune Award in France and in 2017 the Emil M. Mrak International Award from the Cal Aggie Alumni Association.  Hagerman has worked internationally to establish fragile X clinical programs and research programs throughout the world.  She is currently carrying out multiple targeted treatment trials in FXS  including a CBD trial, a metformin international trial, and an AFQ056 NeuroNext study in addition to an Anavex 2-73 trial in Rett syndrome. 

Randi Hagerman

Medical Director, MIND Institute; Distinguished Professor of Pediatrics, Endowed Chair, Fragile X Research, UC Davis Health

Elizabeth Berry-Kravis MD, PhD is a Professor of Pediatrics, Neurological Sciences, and Biochemistry at Rush University Medical Center in Chicago.  She established the Fragile X Clinic and Research Program in 1991, through which she provides care to over 700 patients with fragile X syndrome (FXS). She has studied medical issues, epilepsy and psychopharmacology in FXS, and has been a leader in translational research in FXS including development of outcome measures and biomarkers, natural history studies, newborn screening, and particularly clinical trials of new targeted treatments in FXS, and her laboratory studies the cellular role of fragile X mental retardation protein (FMRP), relationship between FMRP and clinical function, and optimization of genetic testing methods. More recently she has expanded clinical and translational work to other neurodevelopmental disorders and genetic neurodegenerative diseases including autism spectrum disorders, Phelan McDermid syndrome, Rett syndrome, Angelman syndrome, Niemann-Pick type C, Battens disease, pantothenate kinase-associated neurodegeneration, and creatine transporter deficiency. She has received the NFXF Jarrett Cole Clinical Award, FRAXA Champion Award, NFXF William and Enid Rosen Research Award, March of Dimes Jonas Salk Research Award, American Academy of Neurology Sidney Carter Award in Child Neurology and John Merck Fund Sparkplug Award.

Elizabeth Berry-Kravis

Professor of Pediatrics, Neurological Sciences, Biochemistry, Rush University Medical Center

Professor Wm. Ted Brown is the former Director of the New York State Institute for Basic Research (IBR) in Developmental Disabilities, Staten Island, NY. Born in Montana, USA, Prof Brown received his PhD from Johns Hopkins and his MD from Harvard. Upon retiring in 2016, Prof Brown moved to Sydney and married paediatrician Dr Jacqueline Small, who runs a clinic for children with developmental disabilities. He has an appointment as Visiting Professor at the University of Sydney. He is a fellow of the American Board of Internal Medicine and the American College of Medical Genetics. Much of his 40-year research career has focused on the Fragile X syndrome and autism, along with progeria, a premature aging syndrome. Prof Brown was the first to describe a relationship between autism and the Fragile X syndrome. His IBR team was the first to demonstrate the feasibility of prenatal diagnosis for Fragile X, and subsequently has provided prenatal diagnosis for more than 2,000 known carriers.  His laboratory developed a sensitive PCR assay for Fragile X and a sensitive antibody test to quantify fragile X protein (FMRP) levels in blood spots. His IBR clinic was a participant in Fragile X drug trials sponsored by Seaside, Novartis and Roche.  He was the principal investigator on a CDC sponsored study of the natural history of Fragile X (FORWARD) that included 26 clinics in the US. In Sydney in 2017 he was elected to be the President of the Fragile X Association of Australia (FXAA).

Ted Brown

President, Fragile X Association of Australia 

Over the last 30+ years, Neil’s career has seen him progress more than 10 drugs to patients and he’s led a number of drug discovery projects in areas of cardiovascular, neurology, inflammation and oncology among others.

For 15 years, Neil was Senior Vice President of Biology at Astex Pharmaceuticals, helping the company establish itself at the forefront of drug discovery by leading the biology and pre-clinical teams to deliver two new cancer drugs (Kisqali; ribociclib and Balversa; erdafitinib in partnership with Novartis and Janssen respectively) to market. Before that, he was Director of the Immunology Platform at GlaxoSmithKline (GSK).

Neil is also Deputy Chair of the UK MRC DPFS panel and Chair of the MRC CLD/ADI committee, has authored more than 40 publications and patents and sits on the advisory boards of several scientific institutions in the UK.

Neil received his doctorate in Biochemistry from King’s College London.

Neil Thompson

CSO, Healx 

Dr. Mark Bear is Picower Professor of Neuroscience in The Picower Institute for Learning and Memory and the Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology.  He was an Investigator of the Howard Hughes Medical Institute for 22 years from 1994 to 2015, and served as Director of the Picower Institute from 2007 to 2009.  Prior to moving to MIT in 2003, Dr. Bear was the Sidney A. and Dorothy Doctors Fox Professor at Brown University School of Medicine for 17 years.  After receiving his B.S. degree from Duke University, he earned his Ph.D. degree in neurobiology at Brown.  He took postdoctoral training from Wolf Singer at the Max Planck Institute for Brain Research in Frankfurt, Germany, and from Leon Cooper at Brown.  His long-standing scientific interest in how the brain is modified by experience, and his lab is currently focused on applying knowledge of the elementary mechanisms of synaptic plasticity to overcome genetic or environmental adversity.  Bear’s research on Fragile X led to the influential mGluR theory and development of new, potentially disease-modifying therapies.

Mark Bear

Professor of Neuroscience, Picower Institute for Learning and Memory, MIT

Dr. Mark Gurney founded Tetra as a drug development company in 2011 to develop meaningful medications for large unmet needs including Alzheimer’s disease.  He has held positions in academia and within the pharma industry.  Dr. Gurney was named one of two leading inventors in the field of Alzheimer’s Disease therapeutics for his discovery of the beta-secretase, a key enzyme in the amyloid pathway that releases the A-beta peptide from the amyloid protein precursor.

Dr. Gurney’s resume with biotech companies includes work in drug discovery and development as Senior Vice President at deCODE genetics, Inc.; Director Genomics, Pharmacia Corporation; Associate Professor, Northwestern University Feinberg School of Medicine; and Assistant Professor, University of Chicago Medical School.  In addition to his work on Alzheimer’s disease, Dr. Gurney developed the SOD1-G93A transgenic mouse model of ALS.

Dr. Gurney has authored 117 peer reviewed papers that have been cited over 26,000 times and holds 36 issued patents.  He earned a PhD in neuroscience from the California Institute of Technology and an MBA from the Kellogg Graduate School of Management at Northwestern University.

Mark Gurney

Chairman & CEO, Tetra Therapeutics 

Dr. Walter Kaufmann is the Chief Medical Officer of Anavex Life Sciences Corp. and an Adjunct Professor of Human Genetics at Emory University. Trained as a child neurologist and developmental neuroscientist, he has over 25 years of research experience in neurodevelopmental disorders (NDDs), mainly Rett and fragile X (FXS) syndromes, during a career that has included full professorship at Johns Hopkins University and Harvard University. His laboratory and clinical investigations have covered molecular pathways, neuroimaging, animal models, and clinical trials of targeted, disease-modifying therapies, including development of outcome measures and biomarkers.  He has been Co-PI of the Rett Syndrome Natural History Study (NIH) and a member of the Steering Committee of the CDC-funded FORWARD FXS study since its beginning. He was also a founder of the Fragile X Clinical and Research Consortium (FXCRC). His clinical trial experience spans 15 drug trials of NDDs, serving in different capacities including PI, DSMB member, and medical monitor (NeuroNEXT). Dr. Kaufmann has also held many leadership positions in the NDD field, including membership in the Scientific and Clinical Advisory Committee of the National Fragile X Foundation, Chair of RettSearch, and member of DSM-5’s Neurodevelopmental Disorders Work Group. He has also served as member and chair of NIH and DoD study sections. He has published over 200 peer-reviewed articles, served as editor of the first book on clinical aspects of Rett syndrome, and he is currently the Pediatric Neurology Editor for Current Neurology and Neuroscience Reports, and a member of the editorial board of Brain Sciences.

Walter Kaufmann

CMO, Anavex Life Sciences; Adjunct Professor of Human Genetics, Emory University

Charles Large, PhD is a founder and the Chief Executive Officer of Autifony Therapeutics Limited, a privately owned biotech dedicated to the discovery and development of treatments for rare disorders of the CNS, such as Fragile X Syndrome and Amyotrophic Lateral Sclerosis.  Dr Large was previously Director of Molecular and Cellular Biology within the Neuroscience Centre of Excellence for Drug Discovery at GlaxoSmithKline, and has over 20 years of experience in drug discovery.  He is an expert on drugs that modulate voltage-gated ion channels and the therapeutic potential of ion channel modulators in neurological and psychiatric disease. Dr Large is also the Chairman of the Board of Teitur Trophics, a Danish biotech company developing novel treatments for Huntington’s Disease.

Charles Large

CEO, Autifony Therapeutics 

Head of Boston Office and Senior Advisor of Strategic Initiatives, WuXi AppTec

Dr. Tranfaglia serves as Medical Director and Chief Scientific Officer of FRAXA, coordinating the Foundation’s research strategy and working with university and industry scientists to develop new therapeutic agents for Fragile X, autism, and related developmental disorders. He graduated from Harvard University with a BA in Biology and studied medicine at the University of North Carolina at Chapel Hill. After obtaining his MD, he stayed at UNC for Psychiatry residency training, and then entered private practice in 1991 in Newburyport, MA. Mike had specialized in the treatment of Anxiety Disorders prior to his son’s Fragile X diagnosis in 1992 and before he and his wife founded FRAXA in 1994.

Michael Tranfaglia

Mike Tranfaglia

Medical Director & CSO, FRAXA Research Foundation

Dr. Sonenberg received his Ph.D. in Biochemistry from the Weizmann Institute of Science in 1976. He joined the Roche Institute of Molecular Biology in Nutley, New Jersey as a postdoctoral fellow with Aaron Shatkin. In 1979 he moved to Montreal to become a Professor in the Department of Biochemistry at McGill University. For his research he received, among many others, the Wolf Prize in Medicine in 2014. He is elected member of The Royal Society of London; he is Associate Member of the EMBO, and International Member of the National Academy of Sciences and of Medicine, USA.

Dr. Sonenberg studies the molecular basis of the control of protein synthesis in eukaryotic cells and its importance in diseases such as cancer, obesity, diabetes and neurological diseases. He made seminal discoveries demonstrating that control of translation initiation is implicated in cancer, learning and memory, autism and fragile X-syndrome. Sonenberg and his colleagues have studied the factors that recruit ribosomes to the mRNA. He discovered the Internal Ribosome Entry Site (IRES) mechanism of translation initiation in eukaryotes, and the regulation of cap-dependent translation by eIF4E-binding proteins (4E-BPs). The activity of these proteins is controlled by the PI3K/Akt/mTOR signaling pathway. He found that eIF4E is a proto-oncogene, whose protein levels are elevated in tumors. Subsequently, he showed that rapamycin inhibits eIF4E activity. While generating eIF4E binding protein ‘knock-out’ mice, he discovered that the protein plays important roles in metabolism, learning and memory, and innate immunity. He showed that eIF4E is implicated in autism and fragile-X syndrome.

Nahum Sonenberg

Professor & Gilman Cheney Chair in Biochemistry, Goodman Cancer Research Centre, McGill University

Professor Kind is Director of the Simons Initiative for the Developing Brain at the Patrick Wild Centre for Research into Autism, Fragile X Syndrome (FXS) and Intellectual Disability and Professor of Developmental Neuroscience at the University of Edinburgh. He is also Associate Director at the Centre for Brain Development and Repair (CBDR) at the Institute for Stem Cell Biology and Regenerative Medicine (Instem), Bangalore, India. Professor Kind completed his postdoctoral training with Professor Colin Blakemore at Oxford University and Professor Susan Hockfield at Yale University. Professor Kind received his PhD from Oxford University in 1993. He joined the University of Edinburgh in 2020.

The Kind laboratory examines the cellular dysfunction associated with monogenic forms of moderate to severe neurodevelopmental disorders, with particular focus on Fragile X Syndrome. The laboratory focuses on synaptic function, from the physiological and morphological alterations to the behavioural phenotypes associated with mouse and rat models of these disorders. We also test two further hypotheses: 1) that distinct genetic causes of ID/ASD convergence on common biochemical and cellular pathologies associated that may be amenable to similar therapeutic approaches. 2) that different monogenic forms of ID/ASD can be stratifield have different critical periods for effective therapeutic intervention.

Peter Kind

Director, Simons Initiative for the Developing Brain, Patrick Wild Centre; Professor of Developmental Neuroscience, University of Edinburgh

Shona Chattarji received his Master’s degree in Physics from the Indian Institute of Technology, Kanpur. He then went on to do a Ph.D. in Neuroscience from Johns Hopkins University and Salk Institute. After post-doctoral research at Yale University and MIT, he started his own laboratory at the National Centre for Biological Sciences, Bangalore, India in 1999. His laboratory studies how Fragile X Syndrome and stress-related psychiatric disorders change neurons and their connections in the amygdala, thereby triggering the emotional symptoms seen in these brain disorders. Prof. Chattarji was awarded the International Senior Research Fellowship by The Wellcome Trust and the Vision 2008 Award by the Fragile X Research Foundation. He is a Fellow of the Indian Academy of Sciences, a member of the Simons Initiative for the Developing Brain at the University of Edinburgh, and a member of EMBO.

Sumantra Chattarji

Senior Professor, National Centre for Biological Sciences, Tata Institute of Fundamental Science, Bangalore, India

I joined the Galton Laboratory as an undergraduate during which time I was involved in research projects relating to evolutionary genetics and the developmental genetics with Professor Steve Jones. I went on to do a PhD on the neurodevelopmental genetics of spina bifida, at the Institute of Child Health (UCL/GOSH), supervised by Professor Andrew J. Copp. In particular, we were investigating the role of the Protein Kinase C family of genes, and disease phenotypes relating to mutations in these genes in mouse and humans. Following that I became an independent fellow at the Institute of Child Health (UCL/GOSH) in the field of neurodevelopmental rare diseases. I have over 20 years of experience in drug discovery. As the Director of the Biomedicine Division at Fraunhofer-Gesellschaft Research Laboratories, I led several programs on neuroinflammation and rare diseases to the pipeline of different Pharma Corporations. 
I am also the director of FRAXA-DVI a FRAXA supported facility dedicated to disease target identification and drug development in FXS. I also work in Pitt Hopkins Syndrome and other forms of Autism. 
I am currently an Associate Professor at the Departments of Genetics, IEB, Faculty of Science, University of Chile, Chile and Honorary Research Fellow in the Center for Neural Circuit Mapping, UCI, School of Medicine, University of California, Irvine, USA.
 
I am a scientific consultant for several pharmaceutical companies.

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