Our Collaborators

Yale New-Haven Hospital

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Richard Lifton, MD, PhD

A physician-scientist who holds M.D. and Ph.D. degrees from Stanford University, Dr. Lifton has pioneered the use of genetics and genomics to understand fundamental mechanisms underlying human diseases, including cardiovascular disease, neoplasia, kidney disease, and osteoporosis.  He did his medical residency at Brigham and Women’s Hospital, and has been on the faculty of Harvard Medical School and Yale University. He joined Yale in 1993 as assistant professor of internal medicine and genetics, and became chair of Yale’s Department of Genetics in 1998, a position he held until he assumed presidency of Rockefeller. While at Yale, Dr. Lifton also served as executive director of the Yale Center for Genome Analysis, which he founded in 2009.

 

Lifton has used human genetics and genomics to identify rare mutations with large effect and elucidate biochemical mechanisms underlying diverse common diseases.In the particular case of hypertension, which affects more than a billion people worldwide and is a principal risk factor for heart attack, stroke and heart failure, together the leading cause of death worldwide, Lifton’s work has identified mutations and biochemical mechanisms that drive blood pressure to the highest and lowest blood pressures compatible with survival, implicating altered renal salt reabsorption in blood pressure variation. This work has also identified a previously unrecognized pathway that orchestrates the balance between salt and potassium homeostasis, providing a mechanism for dietary potassium’s ability to lower blood pressure. 

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Murat Gunel, MD, PhD

Nixdorff-German Professor of Neurosurgery and Professor of Genetics and of Neuroscience; Chair, Department of Neurosurgery; Chief, Neurosurgery, Yale New Haven Health System; Chair, Perioperative Executive Leadership Committee; Director, Residency Program; Member, National Academy of Medicine; Co-Director, Yale Program on Neurogenetics

Dr. Murat Gunel, Professor of Neurosurgery, assumed the position of chief of Neurovascular Surgery Program in January of 2001. Dr. Gunel is a board certified neurosurgeon and is a fellow of the American College of Surgeons. He has special interest in treating brain aneurysms and vascular malformations with special emphasis on arterio-venous malformations and cavernous malformations. He also has expertise in occlusive vascular disorders such as carotid disease and gamma knife surgery (radiosurgery). 

His laboratory interests parallel his expertise in clinical neurovascular surgery and focus on gene discovery in disorders of the nervous system and its vasculature. Dr. Gunel's lab completed the two largest genome wide association studies (GWAS) aimed at understanding common variants that underlie intracranial aneurysm genetic risk based on the analysis of over 20,000 subjects. In addition, he is interested in the identification of genes important in human brain development through the study of rare, consanguineous families with recessive forms of malformations of cortical development.

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Mustafa Khokha, MD

Associate Professor of Pediatrics (Critical Care) and of Genetics

Dr. Khokha is interested in how embryonic pattern is generated and the resultant congenital malformations that occur when patterning fails. During development, the egg must activate a cascade of genes in order to form our body structure and establish correct pattern along the body axes. He is deeply interested in the gene regulatory networks that are necessary to create critical signals in specific embryonic locations at appropriate developmental stages. These signals must be carefully orchestrated in order to generate forms that are essential to function and the overall fitness of the organism.

The Khokha Lab's main approach is gene discovery from patients with congenital malformations, and then study them in our rapid, human model, Xenopus tropicalis. Recently, the remarkable advances in human genetics/genomics is transforming our understanding of the causes of congenital malformations. Traditionally gene discovery in these patients was very challenging, but new sequencing technologies enable gene discovery in these patients. In human studies, they have identified many new genes and are analyzing their patterning mechanisms in Xenopus. Combining human genetics with a high-throughput model system has allowed us to discover new genetic mechanisms and novel understanding of how development proceeds.

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Dennis Spencer, MD

Harvey and Kate Cushing Professor of Neurosurgery; Chief, Epilepsy Surgery; Director, Epilepsy Fellowship; Director, Pituitary Surgery

The primary focus of Dr. Spencer's clinical work is surgery for medically intractable epilepsy, seizure disorders associated with brain tumors, and pituitary tumors. Besides chairing the Department of Neurosurgery, he directs the Epilepsy Surgery and Pituitary Tumor Programs. 

His research has brought together basic scientists and clinicians around a program concerning energetics, glutamate metabolism and the neurobiological study of human epileptogenic tissue. Study techniques include 4T MRS, C13 intraoperative glucose turnover studies, and in vivo and in vitro electrophysiology and microdialysis, immunohistochemistry, confocal and EM microscopy, and molecular biology. In particular, laboratory discoveries are correlated with the epileptogenic substrate in order to help define human epilepsy pathogenesis and potential therapies. 

Dr. Spencer was the 1999 recipient of the American Epilepsy Society's Research Award in Clinical Investigation, and the 2006 Society of Neurological Surgeons' Grass Award for Excellence in Research. He is past Chairman of the American Board of Neurological Surgery, Vice Chairman of the Neurosurgery Residency Review Committee, President of both the American Epilepsy Society (2008) and the Society of Neurological Surgeons (2007-2008), and he served as interim Dean of the Yale School of Medicine 2003-2004.

Boston Children's Hospital

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Edward Smith, MD, PhD

Director, Pediatric Cerebrovascular Neurosurgery; Co-Director, Cerebrovascular Surgery and Interventions Center; Co-Director, Head, Neck and Skull Base Surgery Program; Associate, Department of Neurosurgery; R. Michael Scott Chair in Neurosurgery; Associate Professor, Harvard Medical School

Dr. Smith focuses his practice on treating patients with cerebrovascular disease and brain tumors, with a particular focus on moyamoya syndrome, arteriovenous malformations and skull base tumors. Together with his colleagues at Boston Children's Hospital, he has developed world-class programs to treat these conditions through ongoing clinical innovation.

 In 2014, together with his colleague and friend Darren Orbach, he founded the Cerebrovascular Surgery and Intervention Center—a first-of-its-kind program that integrates translational research into clinical efforts. This center includes a dedicated translational research fellowship to train clinician-scientists and a series of funded seed grants awarded to foster research in this area. This center is a pilot program sponsored by the hospital designed to innovate paradigms of medical care partnered with research. His team has created 3-D models of patients' brains and blood vessels to rehearse neurointerventional procedures in advance, an innovation that has been shown to save resources and—importantly—improve patient outcomes. His goal is for our center to serve as a national leader to transform the way that care is delivered to children.

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Darren Orbach, MD, PhD

Chief, Neurointerventional Radiology; Co-Director, Cerebrovascular Surgery and Interventions Center; Sage Schermerhorn Chair in Image-Guided Therapy; Associate Professor of Radiology, Harvard Medical School

Dr. Orbach sees patients in the relatively new subspecialty of pediatric neurointerventional radiology,  an area in which Boston Children's Hospital has built one of the world’s largest and most comprehensive practices. His focus has been on children with neurovascular diseases and some cancers affecting the head and neck, using unique, guided approaches for treatment. Dr. Orbach is passionate about making these novel treatment approaches, pionered for use in adults, available to children.

In his role as a leader of the hospital's Cerebrovascular Surgical and Interventions Center, he sees children with conditions affecting blood vessels in and around the brain and the spine. In children with intracranial and extracranial vascular anomalies, he has pioneered the use of devices developed for adults, often in creative ways different from their original designed purpose. His team has demonstrated that it is possible to achieve high-quality image-guided treatment at low radiation doses and new techniques are allowing safe access to  arteries even in the youngest patients.

Mt. Sinai

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Alejandro Berenstein, MD

Clinical Professor and Director of the Pediatric Cerebrovascular Program

Within his clinical and research achievements, Dr. Berenstein established the first comprehensive center for the multidisciplinary treatment of head, neck and peripheral vascular lesions, His contributions with over 180 peer review publications, more than 40 chapters in the field, and 9 books including the five volumes groundbreaking textbook, “Surgical Neuroangiography”, with co authors Piere Lasjaunias MD and Karel TerBurge MD. His achievement include ground-breaking, high-impact contributions in his field of expertise, and extend from the description of the functional vascular anatomy of the brain, head, neck, spine and spinal cord, the understanding of the clinical presentation, description of the natural history of various vascular lesions such as Vein of Galen Malformations, Spinal cord AVMs, maxillofacial vascular lesions, and innovative forms of treating them. He has developed multiple medical devises to treat vascular lesions throughout the body, and are presently used all over the world, and has gained him national and international recognition. His achievements are recognized, throughout specialties, such as Neurosurgery, Radiology, Neurology, ENT and Head and Neck Surgery, as well as Pediatrics, and Interventional Cardiology.

Washington University School of Medicine

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Sheng Chih (Peter) Jin

Assistant Professor of Genetics and Pediatrics

Peter is a human geneticist with a passion for developing computational and statistical methods for the analysis of large-scale genomic studies. His prior scientific training includes Ph.D. work with advisors Drs. Alison Goate and Carlos Cruchaga in which he performed deep sequencing in candidate Alzheimer’s disease (AD) genes, analyzed AD-related endophenotypes and performed in vitro cell-based experiments to identify and functionally characterize novel genetic variants affecting AD risk. As a postdoctoral associate in the lab of Dr. Richard Lifton, Peter developed novel statistical models and bioinformatics pipelines to reveal the significant contribution of rare transmitted and de novo mutations on congenital heart disease risk. Peter also led genomic analyses and methodology development in several genetic studies of complex diseases for the Yale Center for Mendelian Genomics. More recently, he shifted his focus to reveal the genetic etiologies of neurodevelopmental disorders. Working with large multi-site genomics consortia, his group identified novel genes and biological pathways contributing to idiopathic cerebral palsy, congenital hydrocephalus, and Vein of Galen malformation. These results have formed the basis of his current research to expand his focus to the complex genetic models driving rare congenital disorders.