• NGLY1 in The New Yorker!

    Open science and social media were key in the discovery and growth of the NGLY1 rare disease community. Article by Seth Mnookin.

  • NGLY1 Deficiency Research

    In June 2012, the Freeze Lab pioneered research into the clinical treatment of the rare disorder, N-glycanase deficiency.

  • NGLY1 Families Connect

    On February 28, 2014, researchers and 5 NGLY1 families from across the world met for the first ever symposium on N-glycanase deficiency.

Showing posts with label news. Show all posts
Showing posts with label news. Show all posts

Saturday, October 25, 2014

Dr. David Goldstein to direct Institute for Genomic Medicine at Columbia University

NEW YORK (September 23, 2014) — David Goldstein, PhD, will join Columbia University as professor of genetics and development in the College of Physicians and Surgeons and director of a new Institute for Genomic Medicine in partnership with NewYork-Presbyterian, effective January 1, 2015. Dr. Goldstein will be responsible for building a program that comprehensively integrates genetics and genomics into research, patient care, and education at Columbia University Medical Center (CUMC) and NewYork-Presbyterian and that develops programs to prepare students for careers in the expanding field of genomic and personalized medicine.
David Goldstein
David Goldstein, PhD, will join Columbia University as professor of genetics and development and director of a new Institute of Genomic Medicine. (Image Credit: Duke Photography)
Dr. Goldstein’s role includes serving as an adviser to Columbia University President Lee C. Bollinger and Executive Vice President for Health and Biomedical Sciences Lee Goldman, MD, on the genetic and genomic components of Columbia’s university-wide initiative in precision or “personalized” medicine, which was announced in February.
“Having a pioneering researcher like David Goldstein join us marks a crucial next step in our initiative to be at the forefront of genomics, data science, and the core science and engineering disciplines essential to this emerging field of truly humanistic medicine,” said President Bollinger. “The potential for progress in this broad subject encompasses not only new cures for disease, but also virtually every part of the University, including areas that explore fundamental issues of human self-understanding, as well as the legal, policy, and economic implications of revolutionary changes in knowledge and practice.”
Dr. Goldstein’s research has focused on identifying the relationship between human genetic variations and diseases such as epilepsy, hepatitis C, and schizophrenia, as well as the response of these diseases to pharmacologic treatments. In addition to his leadership of the Institute for Genomic Medicine at CUMC, he will have a faculty appointment at the New York Genome Center, as well as one in neurology at Columbia’s College of Physicians and Surgeons.
“David Goldstein has shown himself to be both an innovative scientist and a visionary leader in genetic, genomic, and personalized medicine,” said Dr. Goldman, who is also the Harold and Margaret Hatch Professor of the University and dean of the Faculties of Health Sciences and Medicine at CUMC. “Working with our partners across Columbia and at New York-Presbyterian, Dr. Goldstein will help us establish a fully integrated genetics and genomics research environment to maximize the scientific possibilities and apply them to the frontiers of patient care and public health.”
“Personalized medicine and targeted therapies represent the future of patient-centered health care,” said Steven J. Corwin, MD, CEO, NewYork-Presbyterian. “Dr. Goldstein’s expertise in genetics will help us not only to tailor individualized treatments for patients, but  also to identify diseases before they develop. His work will have a transformative impact on patient care at NewYork-Presbyterian.”
Dr. Goldstein comes to Columbia from Duke University, where he has been director of the Center for Human Genome Variation and the Richard and Pat Johnson Distinguished University Professor, with appointments in the departments of molecular genetics & microbiology and biology. He joined Duke in 2005 after six years at University College London, which named him Honorary Professor in 2007. He received his PhD in biological sciences from Stanford University in 1994.
“The vision of Columbia University and NYP to create a truly integrated environment for research, clinical application, and student instruction is exactly the right vision,” said Dr. Goldstein. “Human genomics is creating breathtaking new opportunities to better understand the biology of disease and to provide more effective and more accurately targeted therapies. Capitalizing on these opportunities and ensuring that clinical applications adhere to the highest-possible scientific standards requires close collaborations among researchers, the clinical community, and patients and their families. I am thrilled to be joining Columbia University at this pivotal time in my field, and I am honored to participate in Columbia’s university-wide initiative in precision medicine.”
Dr. Goldstein was elected a fellow of the American Association for the Advancement of Science in 2013 and received one of the first seven nationally awarded Royal Society/Wolfson research merit awards in the United Kingdom for his work in human population genetics. Also in 2013, Dr. Goldstein chaired the Gordon Research Conference in Human Genetics. He serves on the Advisory Council at NIH’s National Institute of Neurological Disorders and Stroke.
The task force President Bollinger announced in February is co-chaired by Dr. Goldman and Columbia Provost John Coatsworth, PhD.
About:
Columbia University Medical Center provides international leadership in basic, preclinical, and clinical research; medical and health sciences education; and patient care. The medical center trains future leaders and includes the dedicated work of many physicians, scientists, public health professionals, dentists, and nurses at the College of Physicians and Surgeons, the Mailman School of Public Health, the College of Dental Medicine, the School of Nursing, the biomedical departments of the Graduate School of Arts and Sciences, and allied research centers and institutions. Columbia University Medical Center is home to the largest medical research enterprise in New York City and State and one of the largest faculty medical practices in the Northeast. For more information, visit cumc.columbia.edu or columbiadoctors.org.

NewYork-Presbyterian Hospital/Columbia University Medical Center, located in New York City, is one of the leading academic medical centers in the world, comprising the teaching hospital NewYork-Presbyterian and its academic partner, Columbia University College of Physicians and Surgeons. NewYork-Presbyterian/Columbia provides state-of-the-art inpatient, ambulatory and preventive care in all areas of medicine, and is committed to excellence in patient care, research, education and community service. NewYork-Presbyterian Hospital also comprises NewYork-Presbyterian Hospital/Weill Cornell Medical Center, NewYork-Presbyterian/Morgan Stanley Children’s Hospital, NewYork-Presbyterian Hospital/Westchester Division, NewYork-Presbyterian/The Allen Hospital and NewYork-Presbyterian/Lower Manhattan Hospital. The hospital is also closely affiliated with NewYork-Presbyterian/Lawrence Hospital in Bronxville. NewYork-Presbyterian is the #1 hospital in the New York metropolitan area, according to U.S. News & World Report, and consistently named to the magazine’s Honor Roll of best hospitals in the nation. For more information, visit www.nyp.org.

Thursday, July 24, 2014

US Congress hears about NGLY1


On Tuesday, July 22, 2014, at 3:00 p.m. in 2322 Rayburn House Office Building, the Subcommittee on Health held a hearing entitled “21st Century Cures: Examining Barriers to Ongoing Evidence Development and Communication.” This hearing focused on issues surrounding continued evidence development and communication of information regarding treatments and cures in the real world setting.

In her opening statement, Rep. Diana DeGette (Colorado) used NGLY1 as an illustration, and goes on to ask, "What can we do to harness this [patient involvement and technology] in a much more systemic way, so that these types of communications can happen effortlessly both in the United States and with our colleagues around the world?"

Video automatically starts at Rep. DeGette's statements about NGLY1.

Learning about the benefits and risks of a drug or device does not end when the Food and Drug Administration approves, licenses, or clears the product for use in certain patients based on the evidence presented during the premarket review process. In many ways, the process is just beginning. 
Different uses for drugs and devices are being discovered constantly, many times for treatment of new conditions and diseases or for populations of patients other than for which they were initially approved. Treatment in the real world setting also provides the opportunity to learn more about both the benefits and risk profile of a drug and device for its indicated use, as well as other uses. 
Learning and data sharing regarding safety and efficacy are happening through a multitude of platforms around the globe. Dialogue regarding this enhanced learning--whether through the Internet, social networks, or other platforms--should be facilitated among doctors, patients, researchers, and scientists because the free flow of data, research, and results related to what a therapy or combination of therapies does or does not do well and in what types of patients could help advance the discovery, development and delivery cycle.

Wednesday, July 23, 2014

Boston Public Radio covers NGLY1

Boston Public Radio 07/21/2014

The segment on NGLY1 starts at 1:36:39.

Seth Mnookin, a professor in the MIT graduate program in science writing, talked about his new piece in The New Yorker titled "One of a kind: What do you do if your child has a condition that is new to science?"

Tuesday, July 15, 2014

NGLY1 in "The New Yorker"


Journalist Seth Mnookin dedicated over two years to research and chronicle the discovery of N-glycanase deficiency and the growth of the NGLY1 community.

It is an honor to have an ultra-rare disease brought to public attention with such compelling and thorough reporting.

On behalf of all NGLY1 patients and their families, including those yet undiagnosed: Thank you, Seth!

You can read the full article HERE.

Sunday, June 29, 2014

Parental Might

The Might family was recently featured in the summer issue of Sanford-Burnham Medical Research Institute's "Portal".  It's a lovely feature on pioneering N-glycanase deficiency research through Dr. Hudson Freeze's laboratory and the Bertrand Might Research Fund.  

According to the Mights, "We began funding Hud's NGLY1 research in mid-2012, and went to visit the lab shortly thereafter in August 2012.  Our fabulous post-doc Ping He has done and continues to do a great job pushing the science for our kids.  We're proud to support the Freeze lab."