Speakers

PURA Syndrome 2024 Conference | June 21–23, 2024

 

Scientists. Researchers. Clinicians. Experts in the Field. Fellow participants. We have an exciting array of speakers and topics to offer! See below for a listing of our presenters with their photos and bios.

Meet Our Speakers

Mary Duffy
Mary Duffy

Mary Duffy serves as the Executive Director of the Danny Did Foundation, a Chicago-based nonprofit that holds the mission to prevent deaths caused by seizures. She began her service in the epilepsy community after her dear friend lost her son, Danny Stanton, to Sudden Unexpected Death in Epilepsy, or SUDEP. Knowing that Danny’s parents were not counseled about SUDEP before his passing, Mary believes that families who face seizures deserve honest and open communication from medical providers about the various treatments and risks within epilepsy. Her work spreading SUDEP education and awareness has spanned researchers, healthcare providers, fellow advocates and device manufacturers. Among her specialties at Danny Did, she has helped thousands of caregivers and adult patients to gain seizure alerting devices. Mary is motivated by Danny and all those who have been lost too soon to epilepsy. 

Prof. Matt Guille
Prof. Matt Guille

Matt Guille grew up on the tiny island of Guernsey before obtaining his degree and PhD in Biochemistry at King’s College London. After 3 years of postdoctoral work in cell culture at what is now the Crick Institute Matt returned to working on gene regulation in the frog Xenopus, his PhD subject. At the University of London’s Developmental Biology Research Centre he was part of the team that discovered how Gata transcription factors control cardiovascular system formation. Matt then established his own lab, continuing these studies at Portsmouth on the South Coast of England until he was asked by the Xenopus research community to create a resource centre for genetics in the model. Work on this began in 2006 and the EXRC is now the largest centre for such studies, with visitors coming to train and do experiments from all over the world. With the advent of gene editing, which works extremely well in the frog, Matt sought collaborations with clinical geneticists to test whether the frog could be a useful tool to help them diagnose and understand rare genetic diseases. Among the diseases he and his colleagues have discovered and/or investigated with Sarah Ennis and Diana Baralle at Southampton is PURA. In his spare time Matt coaches on Britain’s Olympic rifle pathway.

Kristin Hartness
Kristin Hartness

Coming Soon!

Dr. David Hunt
Dr. David Hunt

Dr David Hunt is a Consultant Clinical Geneticist, based in Southampton, UK. He has been a member of the Wessex Clinical Genetics Service since 2012 and has been working as a consultant since 2016. He has an appointment as an Honorary Research Fellow at the University of Southampton.

Whilst an undergraduate in Medicine at St Bartholomew’s and the Royal London School of Medicine and Dentistry, he completed an intercalated bachelor’s degree in Biochemistry at University College London. He subsequently transferred to the MBPhD Programme at University College London and completed an intercalated PhD in Molecular Pathology. 

Dr Hunt then completed his Foundation and Core Medical Training in London, before relocating to Southampton in 2012.

He has co-authored several peer-reviewed articles about PURA syndrome, including one of the first two papers characterising PURA Syndrome in October 2014. He was also involved in organising the first PURA Syndrome Annual Conference in the summer of 2015 and he continues to work closely with the PURA Syndrome Foundation.

Dr. Robert Janowski
Dr. Robert Janowski

Robert Janowski obtained a Masters degree in Chemistry at the Adam Mickiewicz University in Poznan (Poland) as well as a Masters degree in Structural Biology at the Birkbeck College, University of London (UK). Afterwards he did his PhD in Chemistry at the Adam Mickiewicz University in Poznan (Poland). He is a staff scientist in the Institute of Structural Biology at the Helmholtz Center Munich (Germany). He is responsible for the X-ray Crystallization Platform where he investigates the three-dimensional models of the proteins and nucleic acids on the atomic level. He is particularly interested in the structural studies of human PURA, its mutants and their interactions with RNA. 

Dr. Yong-hui Jiang
Dr. Yong-hui Jiang

Dr. Yong-hui Jiang is Professor of Genetics, Neuroscience, and Pediatrics at Yale School of Medicine and Chief of Medical Genetics of Yale New Haven Hospital. Dr. Jiang is a physician scientist and active practicing physician at Yale Children’s Hospital and Yale Hospital.  He received his MD at Shanghai Medical College of Fudan University with highest honor in China and his PhD in Human and Molecular Genetics at Baylor College of Medicine under the mentorship of Arthur Beaudet.  He completed a residency in pediatrics and fellowship in clinical genetics and medical biochemical genetics at the Texas Children’s Hospital and Baylor College of Medicine.  He is board certified in Clinical Genetics and Medical Biochemical Genetics by American College of Medical Genetics and Genomics. His clinical interest is inborn error of metabolism and genetic evaluation of neurodevelopmental disorder and rare genetic disorders. He is Director of Yale National Organization of Rare Disease Center of Excellence for Rare Diseases. Jiang’s research program focuses on to investigate molecular and neurological bases of human neurodevelopmental and neurobehavioral disorders with focus on autism spectrum disorder (ASD), Angelman and Prader, Phelan-McDermid, PURA, TUSC3, and HIST1H1E syndromes in human and model organisms.

Peter MacDonald
Peter MacDonald

Peter MacDonald is a master’s candidate at the University of Toronto in the Molecular Genetics program doing research on PURA Syndrome. He works at SickKids in Dr. Jim Dowling’s lab whose research focuses on finding therapies for rare childhood muscular disorders. Peter completed his undergraduate degree in electrical engineering at the University of New Brunswick. He decided to pivot his education and pursue disease research when he was diagnosed with a genetic peripheral neuropathy, HNPP. His unorthodox background and personal motivation help him bring a new perspective to the field of disease research.

Dr. Douglas Nordli
Dr. Douglas Nordli

Douglas R. Nordli, Jr., MD, is a highly skilled neurologist who specializes in treating children with neurological conditions. Dr. Nordli focuses on pediatric epilepsy, with a particular interest in early onset epilepsy, and he is passionate about understanding each child’s unique condition so that he can provide targeted treatment for better results.

Along with Dr. Nordli’s clinical work, he is also actively researching methods to improve pediatric neurology care. Dr. Nordli is investigating techniques to predict and alter the course of epilepsy and examining how a novel method of classification of epilepsy can lead to better diagnosis and treatment. Dr. Nordli has been published in numerous peer-reviewed journals, such as the Journal of Pediatrics, Pediatric Neurology, Epilepsia and Epilepsy & Behavior.

Dr. Nordli is also involved in the education of medical students, residents and fellows. He mentors fellows and has developed CME courses to help guide pediatric neurology residents and fellows. Dr. Nordli has also given multiple lectures both during ground rounds and as an invited lecturer nationally and abroad. 

Dr. Lauren Dengle Sanchez
Dr. Lauren Dengle Sanchez

Lauren Dengle Sanchez, MD is both a Pediatric Neurologist and a mother of a child with PURA Syndrome. 

After obtaining her bachelor’s degree in Molecular and Cell Biology at Texas A&M and her medical degree from McGovern Medical School in Houston, Texas, Dr. Sanchez completed a Pediatrics and Pediatric Neurology residency at UT Southwestern Medical School in Dallas. She remained at UT Southwestern after graduation in 2014 as an Assistant Professor of Pediatric Neurology. She is also the Associate Program Director of the Pediatric Neurology residency program at UT Southwestern. In her role in medical education she trains medical students and residents and helps usher in the next generation of pediatric neurologists. In her clinical practice, she sees pediatric patients with general neurological concerns, with a special focus on brain tumors and the rare disorder Neurofibromatosis type 1. Her research experience has focused on the rare disorders Glut 1 transporter deficiency and Mucopolysaccharidosis type IIIc.

Lauren is also the mother of a young child with PURA Syndrome. As a pediatric neurologist, Lauren is lucky to have prior clinical experience with this syndrome which allowed her to recognize the syndrome early in her daughter and led to a rapid diagnosis. She has learned a lot from being on the other side of the medical interactions. She is grateful to now be learning from the experience of other families of people with PURA Syndrome. Lauren hopes that her combination of experience from a physician’s and a parent’s perspective could be applied to help current and future PURA families.

Anna Ware, M.S., CCC-SLP
Anna Ware, M.S., CCC-SLP

Anna Ware has been a clinical practicing SLP for 13 years. She has grown her expertise and passion working with all ages within the specialty of Augmentative Alternative Communication (AAC) while working at Shirley Ryan Ability Lab. She has taught professional level CEU and graduate level courses on AAC. She has hopes of making AAC knowledge more widespread and available to all clinicians in all settings. She feels no person should be left without voice or the opportunity to learn and obtain communication. She has advocated at the state level with funding processes to ensure funding availability for all clients when it comes to higher technology resources. She is, also, an advocate on how to use and implement all the free and paper based resources so every clinician can incorporate AAC in any setting. 

She earned her undergraduate degree from Western Michigan University and her Masters of Science in Speech Language Pathology at Seton Hall University in New Jersey. She has lived in Chicago since graduation and has fallen in love with the city. She is now raising her family here, which includes her two young sons and spouse.
Dr. James Weedon
Dr. James Weedon

James Weedon is a Developmental and Behavioral Pediatrician with Advocate Children’s Hospital and is the Division Director for Developmental Pediatrics across the Advocate Healthcare enterprise which spans Chicago and the surrounding counties in Northeast Illinois. He is a graduate of the Developmental and Behavioral Pediatrics fellowship at the University of Chicago along with the Leadership Education in Neurodevelopmental and Related Disabilities (LEND) program at the University of Illinois in Chicago. He has served as a Chairperson of the Illinois Chapter of the American Academy of Pediatrics Committee on Children with Disabilities and is a founding board member of the C.I.T.Y. of Support (Children in Therapy and You) non-profit to create a dynamic community online and in person for families with children in developmental therapies. Dr. Weedon trains medical students, pediatric residents, and developmental and behavioral pediatrics fellows in his clinics and lectures. His clinical interests include early evaluation for developmental disorders such as autism spectrum, ADHD, communication disorders, sensory differences, and behavioral problems in children as well as ongoing management into adolescence and the transition to adulthood.

Jean Weinberg
Jean Weinberg

Co-Founder, Jack’s Tomorrow

Jean Weinberg began her career at CNN and has spanned various roles in communications from politics to public health. Prior to joining Bloomberg Philanthropies, she served as Chief Communications Officer for the New York City Housing Authority. In this role, she oversaw all resident, employee, and external communications. Ms. Weinberg previously served as Director of Public Affairs for the New York City Department of Health. During her tenure at the Health Department, she led the City’s media response for several major events including Hurricane Sandy, the City’s first Ebola case, and multiple Hepatitis A outbreaks. Before joining the Health Department, she worked in corporate communications for General Electric (GE). Prior to GE, Ms. Weinberg served in the Obama Administration as Press Secretary for the White House Office of Management and Budget. Earlier, Ms. Weinberg worked on Obama’s 2008 Presidential Campaign as the Regional Press Secretary in Missouri.

Ms. Weinberg earned a Bachelor of Arts degree in Government from Georgetown University.

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