The Colleen Giblin Research Laboratories for Pediatric Neurology Web site

Pages

1. Home page

2. Mission statement

3. Investigators

4. Research

a. Molecular basis of cerebral energy utilization and failure

b. Molecular excitability disorders

5. Publications

6. Facilities

7. The Colleen Giblin Annual Award and Lecture

8. Job opportunities

9. Patient information

10. Information for referring physicians

11. Contact and support us

Address:Colleen Giblin Laboratories, Box 81Columbia University Medical CenterNeurological Institute of New York710 West 168th StreetNew York, NY 10032

Giblinlabs@neuro.columbia [blind link]

Header: The Colleen Giblin Research Laboratories for Pediatric Neurology

Keywords: Glut1Glut1 deficiencyGlut1 testPyruvate dehydrogenasePDH deficiencyPDH test

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Pyruvate carboxylasePC deficiencyMetabolic disease brainMELASMELAS testMitochondrial diseaseIon channel diseaseIon channel disease testChannelopathyChannelopathy testD. De VivoDe Vivo diseaseD. WangJ. Pascual

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2. Mission statementThe Colleen Giblin Research Laboratories for Pediatric Neurology, a unique training and scientific resource, and the Giblin Foundation, were established in 1985 by the Giblin family in memory of Colleen, their daughter, who succumbed to a brain tumor.

Today, the Laboratories serve as a forum where physicians and scientists from practically all areas of the world conduct research on the molecular genetics, diagnosis and treatment of diseases of the developing human brain. Researchers are encouraged to tackle virtually all areas of neurological disease using the latest advances in molecular and cellular biology and genetics. Former trainees and associates have developed similar research enterprises in the U.S. and other countries modeled after the Giblin Laboratories.

The annual Colleen Giblin Award and Lecture series [link] provide additional opportunities for interaction with prestigious visiting researchers of international renown.

Research is supported by the Colleen Giblin Foundation [link], the National Institutes of Neurological Disorders and Stroke [link http://www.ninds.nih.gov/index.htm ], patients, families and many generous benefactors without whose help our endeavors could not be possible

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3. InvestigatorsDarryl C. De Vivo, MD

Director of LaboratoriesMetabolic diseaseNeuromuscular DiseaseEnergy failure[link to PubMed publications; see address on last page][link to NI faculty profile

http://cpmcnet.columbia.edu/dept/neurology/ni/faculty/devivo.htm ]Juan M. Pascual, MD, PhD

Director of Molecular BiophysicsExcitability disordersMolecular transport[link to PubMed publications; see address on last page][link to NI faculty profile

http://cpmcnet.columbia.edu/dept/neurology/ni/faculty/pascual.htm ]Dong Wang, MD

Director of Human Molecular Genetics Molecular geneticsMetabolic diseases[link to PubMed publications; see address on last page][link to NI faculty profile –link TBA-]

Petra Kaufmann, MD, MScMetabolic diseaseNeuromuscular disease[link to NI faculty profile

http://cpmcnet.columbia.edu/dept/neurology/ni/faculty/kaufmann.htm ]Dalina Stiner, MS

Cellular repositoryXia Mao, MD, PhD

Transgenic modelsMolecular genetics

Hong Yang, MDMolecular genetics

Ru Yang, MD, PhDElectrophysiologyMolecular Biology

Sarah Jhung, BSStatistical data management

Kris Engelstad, BSClinical research coordination

Jeannette JonesAcademic office coordination

Rosemary GuzmanClinical office coordinator

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Carolina RegusOffice assistant

CollaboratorsMarc Patterson, MD[link to NI faculty profile http://cpmcnet.columbia.edu/dept/neurology/ni/faculty/patterson.htm ]Salvatore DiMauro, MD[link to NI faculty profile http://cpmcnet.columbia.edu/dept/neurology/ni/faculty/dimauro.htm ]Claudia Chiriboga, MD, MPH[link to NI faculty profile http://cpmcnet.columbia.edu/dept/neurology/ni/faculty/chiriboga.htm ]Marcela Garcia Alvarez, MDRonald van Heertum, MD[link http://cpmcnet.columbia.edu/dept/radiology/faculty.html#Anchor-Ronald-1659 ]Veronica Hinton, PhD[link http://cpmcnet.columbia.edu/dept/sergievsky/cnd/hinton.html ]Jorge Fischbarg, MD, PhD[link http://cpmcnet.columbia.edu/dept/eye/fac_fischbarg.html ]Dikoma Shungu, PhD[link http://www.columbia.edu/~ds214/ ]Linda Leary, MD[link to NI faculty profile http://cpmcnet.columbia.edu/dept/neurology/ni/faculty/leary.htm ]

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4. Researcha. Molecular basis of cerebral energy utilization and failureThe Colleen Giblin Laboratories, in the context of the Division of Pediatric Neurology at the Columbia University Medical Center, enjoy a distinguished tradition of metabolic disease research and discovery. The Laboratories and the Division also remain at the forefront of investigative and clinical excellence in other areas such as sickle cell encephalopathy, pediatric brain tumors, pediatric epilepsy, storage diseases, fetal neurotoxicity and functional neuroimaging. Diseases like Reye syndrome, glucose transporter deficiency (Glut-1 DS), carnitine deficiency, and pyruvate dehydrogenase and carboxylase deficiencies, among other mitochondrial disorders, were first identified and/or successfully treated by members of the Division.

An unusually large patient base comprising referrals from every part of the world is available for metabolic research. A tissue culture bank containing some 1,000 samples with accompanying clinical descriptions has been established by Dr. De Vivo and constitutes a unique investigational resource.

Our efforts are currently devoted to the central steps of energy metabolism and integrate molecular and clinical aspects, a research paradigm that will be adopted by most institutions in the future. Projects include: 1) The molecular genetics, pathogenesis, diagnosis and therapy of Glut-1 DS. The Laboratories serve as the major referral center for diagnosis and mutation identification in the world and carry out natural history studies and therapeutic trials. 2) Pyruvate dehydrogenase function, regulation, and deficiency. The identification of modulatory genes involved in the function of this crucial metabolic process, aided by the molecular study of patients and families with uncommon forms of pyruvate dehydrogenase deficiency, is under way. 3) Pyruvate carboxylase gene structure and clinical forms of deficiency. 4) The natural history and therapy of the syndrome of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS), a prototype mitochondrial disease.

Patients collaborating in these NIH-sponsored research projects are studied at the Irving Center for Clinical Research (ICCR) [link http://cpmcnet.columbia.edu/dept/irving_center/ ] and are also subject to investigative functional brain imaging and neuropsychological assessment techniques being developed in conjunction with the Laboratories.

b. Molecular excitability disordersThis newly established research program was developed in response to the great expansion and renewed attention these disorders have experienced since the advent of molecular genetics and the patch clamp, two major tools used in combination at the Laboratories.

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Diseases of interest include epilepsy, arrhythmia, genetic myopathies and neurotoxicity.

To the well-established tradition of clinical study and discovery of excitability disorders of muscle, nerve and brain at the Neurological Institute, the Laboratories add the expertise of scientists interested in ion channel structure, function and pharmacological modification.

Our research is based on the predicate that disease represents the translation of perturbations of molecular function to the living organism and that such functional perturbations are the consequence of molecular structural abnormalities. In the particular case of excitability diseases, a given structural abnormality alters the transduction of free electrical or chemical energy into a molecular conformational change that operates a signaling relay (i.e. an ion channel gate or a receptor with enzymatic capabilities).

The Laboratories are equipped with a voltage clamp suitable for the study of oocytes injected with RNA coding for ion channel proteins, and with a self-standing patch clamp unit enclosed in isolating glass that contains a computerized micropipette puller, a microforge, a microinjector and a vibration table that shelters a Nikon TE-300 fluorescent microscope stage where experiments take place. Molecular genetic facilities are also integral part of this program, including areas for work with radioactive tracers and RNA and a cell culture and banking facility. The computing capabilities include several workstations containing Pentium III and IV processors linked to a Neurology internal network and to the Internet.

The clinical aspect of this research program benefits from the availability of the Irving Center for Clinical Research (ICCR) [link http://cpmcnet.columbia.edu/dept/irving_center/ ], an NIH-funded investigational resource where patients and their families are studied and followed. Involvement of basic and clinical researchers in group discussions of patient assessment and management is strongly encouraged, in order to cross-fertilize participating scientists and clinicians and to nurture the exchange of ideas from all traditional disciplines. Opportunities for interaction with other groups interested in excitability from molecular, cellular, systems or cognitive perspectives are emphasized.

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c. Research highlights1. Glucose transporter deficiency syndrome2. MELAS (mitochondrial encephalopathy, lactic acidosis and

stroke-like episodes) therapy3. MELAS natural history4. Sickle cell disease encephalopathy5. Novel chemotherapeutic agents for brain tumors6. Ion channel diseases7. Pyruvate dehydrogenase deficiency8. Pyruvate carboxylase deficiency9. Transgenic animal models of human disease10. Metabolic imaging of the developing human brain11. Gene induction therapies12. Molecular and genetic diagnosis13. Newborn neuromuscular diseases (spinal muscular

atrophy)14. Reye syndrome15. Carnitine deficiency syndromes16. Other focused projects conducted by visiting trainees

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5. Publications

{Here, a list of PDF files will be linked; see Publications PDF FORMAT folder}

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6. FacilitiesMolecular geneticsThe Laboratories are equipped with all the resources necessary for cloning, subcloning, nucleic acid isolation, blotting and mutagenesis, including polymerase chain reaction. The equipment includes bacterial incubators, cold room, dark room, electrophoresis supplies, high-speed centrifuges, as well as commonly used and custom-made radiotracers. DNA sequencing is performed at the Sequencing Facility, part of the Columbia Genome Center.

Transgenic animalsIn collaboration with the Columbia Transgenic Facility in the adjacent Hammer Research Building, transgenic mice are being produced as models of human disease.

Fluorescence in situ hybridization (FISH) The Laboratories host a dedicated microscope and work area for this area of clinical and scientific investigation. Currently, the resource is being utilized in the first step of the genetic diagnosis of Glut-1 DS, since about 10% of patients are FISH positive, eliminating the need for further genetic testing.

Binding and tracer uptake assaysProtein binding and kinetic studies of transport mediated by molecules of interest across cellular membranes are used as a tool to investigate the function of patient cells harboring mutations.

Tissue cultureCells obtained from patients, mainly, but not limited to, skin fibroblasts, are propagated and expanded until functional or protein assays are performed. Gene expression and amplification studies are currently being carried out on these cells.

Cellular bankAll tissue samples with self-perpetuating capabilities are susceptible to propagation and subsequent storage indefinitely in deep freezers for future study. Devitalized patient samples are also maintained under optimal preservation conditions. Each sample is accompanied by an archived clinical description.

Protein chemistryResources include ultracentrifuges, a computerized spectrophotometer, a disintegration counter, affinity purification and blotting capabilities and enzyme activity assays, of interest in certain metabolic abnormalities.

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Voltage clampThe laboratory includes a two-electrode voltage clamp for use with injected Xenopus oocytes. RNA coding for a wild type or mutated molecule of interest may be injected into oocytes, normally devoid of such molecules and, after a period of incubation, the functional properties can be precisely studied. A computer using pCLAMP software controls data generation and acquisition through a Warner amplifier. The experimental setup is enclosed in an isolating cage in which several experimental solutions are ready for application to the oocyte. A temperature control system allows the performance of experiments under the desired conditions.

Patch clampThis laboratory is housed in an octagonal-shaped glass enclosure for isolation and comfort. The vibration table contains a Nikon TE-300 equipped with Hoffmann modulation optics and epifluorescence filters. An Axopatch 200B amplifier performs voltage control and current recording and a Pentium IV microcomputer running pCLAMP 8 transforms the data for analysis. The unit includes a Narishigue microforgue and a Sutter processor-controlled micropipette puller. The computer is linked to the Internet and to a networked high-capacity drive for data backup.

ComputingThe Neurology internal network links the Laboratories to high-capacity backup servers and to the Internet via optic fiber cable. The Laboratories include 13 PC and 2 Mac interlinked microcomputers dedicated to the various scientific instruments or investigator desks. Most computers contain Pentium IV processors and are equipped with color printing and digital scientific presentation capabilities. New patients can be videotaped and scientific photographs stored on digital media. A public library of digital presentations by members of the Laboratories on different topics of scientific and clinical interest is being created.

Clinical databasesAll patient-related information is maintained in digital databases for study. Detailed records and results of explorations with investigative value are classified by disease and subdivided by key headings, in an effort to facilitate research and to promote resource sharing. Current databases include pediatric brain tumors, MELAS and other mitochondrial disorders, pediatric neuromuscular disorders with special emphasis in spinal muscular atrophy (SMA), Glut-1 DS, sickle cell disease and other poorly understood conditions still being defined and characterized.

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Clinical trialsAll of the NIH-funded clinical trials are coordinated to allow clinicians and scientists maximum interaction with patients who chose to participate. Research patients are brought to the Irving Center for Clinical Research (ICCR) [link http://cpmcnet.columbia.edu/dept/irving_center/ ], a comfortable, patient-oriented facility that includes a Pediatric branch at Children’s Hospital of New York, and exposed to a variety of diagnostic and quality of life assessments performed by highly skilled investigators and staff. Over time, entire families have elected to participate in the studies culminating in the elucidation and treatment of numerous neurological and other diseases.

Administration and managementThe Laboratories could not function without the assistance and care of dedicated staff members who look after the documentation, transcription, patient contact and numerous other invisible but essential tasks.

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7. The Colleen Giblin Award and Lecture

[Please insert attached file with the 2004 lecture brochure

File name:

BROCHURE Giblin lecture 2004 ]

List of Awardees and Lecturers

1986: Darell D. Bigner, M.D., Ph.D.“What Does the Scientific Revolution in Molecular and Cellular Biology Mean to the Clinician Treating Patients with Brain Tumors’http://pathology.mc.duke.edu/neuropath/np_faculty_dbigner.htm

1987: Robert A. Weinberg, Ph.D.“Oncogenes & Anti-Oncogenes”http://www.wi.mit.edu/far/far_weinberg_bio.html

1988: Bengt Westermark, Ph.D.“Growth Factors and Oncogenes in Human Malignant Glioma”http://www.genpat.uu.se/Forskargupper/grfa/grfar.html

1989: Webster K. Cavenee, Ph.D.“Recessive Oncogenes in Human Tumor Predis-position and Progression”http://cancer.ucsd.edu/summaries/wcavenee.asp

1990: J. Michael Bishop, M.D.“Oncogenes: Bench to Bedside”http://cc.ucsf.edu/people/bishop_jmichael.html

1991: Francis S. Collins, M.D., Ph.D.“Molecular Genetics of Neurofibromatosis”http://www.genome.gov/page.cfm?pageID=10000351

1992: Kay E. Davies, MA, DPhil“Molecular Analysis of the Fragile-X Syndrome”http://www.anat.ox.ac.uk/groups/kedavies.htm

1993: Bert Vogelstein, M.D.“Genetic Basis of Human Cancer”

http://www.hhmi.org/research/investigators/vogelstein.html

1994: R. Michael Blaese, M.D.“Progress in Gene Therapy”

http://www.genome.gov/Pages/Hyperion/gene_therapy/bio.html

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1995: James F. Gusella, Ph.D.“The Power of Merlin”

http://www.mgh.harvard.edu/depts/molneur/mnu.htm

1996: Yosef Shiloh, Ph.D.“Molecular Genetics of Ataxia-Telangiectasia:Broader Implications for Cancer Research”http://www.tau.ac.il/medicine/genetics_molecular/shiloh.html

1997: Huda Y. Zoghbi, M.D.“The Rise of Repeats and the Fall of Neurons:Implications for Pathogenesis”http://imgen.bcm.tmc.edu/molgen/facultyaz/zoghbi.html#selected

1998: Hugo W. Moser, M.D.“Genetics, Pathogenesis and Therapy of Adrenoleuko-dystrophy and Other Perioxisomal

Disorders”http://www.kennedykrieger.org/kki_staff.jsp?pid=1841

1999: Judah Folkman, M.D.“Angiogenic Research: Experimental & Clinical Studies”http://cgi.photobooks.com/scripts/troll.cgi?dbase=children&setsize=3000&page=2&layout=public&department=Surgery&pict_id=9905740

2000: Christopher A. Walsh, M.D., Ph.D.“Scrambling, Doubling, and Disabling the Human Brain:Genes Required for Cerebral Cortical Development”http://www.walshlab.org/

2001: Joseph J. Volpe, M.D.“Brain Injury in the Premature Infant – From Pathogenesis to Prevention”http://web1.tch.harvard.edu/research/mrrc/investigators/volpe/

2002: Elizabeth H. Blackburn, Ph.D.“Telomerase, Cell Proliferation and Cell Death”http://cc.ucsf.edu/people/blackburn_elizabeth.html

2003: Gideon Dreyfuss, Ph.D.“The Survival of Motor Neurons Complex: An Assembly Machine for Ribonucleoprotein Particles”http://www.med.upenn.edu/bmbgrad/Faculty/Master_List/Dreyfuss/dreyfuss.html

2004: Scott L. Pomeroy, M.D., Ph.D“Using Genomics to Identify Molecular Therapeutic Targets in Central Nervous System Embryonal Tumors”http://cgi.photobooks.com/scripts/troll.cgi?dbase=children&setsize=10&page=2&layout=public&last=Pomeroy&pict_id=9902970

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8. Job opportunitiesThe following list of employment opportunities is provided to facilitate the selection of interested individuals. Nevertheless, exceptionally qualified scientists and professionals are encouraged to submit an employment application at any time. All individuals seeking employment must meet the eligibility requirements of the Office of Human Resources of Columbia University.

The Colleen Giblin Laboratories are located at the Neurological Institute of New York, a 14-floor facility that houses the first modern academic department of Neurology established in America. The Neurological Institute has been renovated in 2001, including the construction of a magnetic resonance research facility in the subbasement, and is located at the Medical Center campus of Columbia University and New York Presbyterian Hospital, one of the major biomedical complexes in the United States and the largest in New York City. Institutions on campus include the College of Physicians & Surgeons and associated research centers, The Presbyterian Hospital, The Milstein Hospital building, the Children’s Hospital of New York, the New York State Psychiatric Institute, the School of Public Health and the biomedical technology park of Columbia University, now including three new buildings. The Colleen Giblin Laboratories, a spacious facility overlooking the Hudson River, include state of the art work areas, offices, meeting and library space and equipment and are linked by a computer network to the scientific and clinical resources of the campus. Subscription to many on-line journals is provided free of charge by the Medical Center library and there are gymnastic and childcare facilities on campus. Transportation to the Morningside campus of Columbia University is free of charge.

The Laboratories include facilities for the performance of:DNA cloning, mutation screening and mutagenesisRNA extraction and synthesisFluorescence in situ hybridizationTransgenic miceCell and oocyte culture and injectionProtein characterization and bindingBiochemistryOocyte voltage clampPatch clampSpectrophotometryScientific photographyNetworked computing, digital image processing and scientific presentationJournal library

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Applications should be e-mailed, when feasible, to:

giblinlabs@neuro.columbia.edu [blind link]

Or, alternatively, mailed in triplicate to:

Colleen Giblin Laboratories, Box 81Columbia University Medical CenterNeurological Institute of New York710 West 168th StreetNew York, NY 10032

Laboratory technician, molecular biologyRequires two or more years of experience with recombinant DNA, including bacterial culture, plasmid preparation, mutagenesis, RNA isolation and synthesis, transfection and sequence analysis.

Senior laboratory technician, tissue cultureInvolves the expansion and maintenance of patient cell lines and samples for research purposes. All aspects of tissue culture, including mammalian cell transfection, shipping and receiving of samples, and management of the tissue culture laboratory budget must be performed. Requires extensive experience in a similar position.

Postdoctoral research scientistMolecular basis of cerebral energy utilization and failureThe position is designed to provide a scientist with the training necessary to lead an independent scientific career in the field of molecular biology and biochemistry of metabolism applied to disease. The focus is on conditions that cause neurological disorders using the methods of molecular genetics, biochemistry, functional and metabolic brain imaging and of transgenic animal models and experimental therapeutics. Extensive access to and familiarity with clinical material is encouraged as a resource for scientific investigation.Formal experience, such as that obtained during a doctorate’s degree in molecular biology and/or biochemistry, is required.

Postdoctoral research scientistMolecular excitability disordersThe successful candidate will become most proficient in the fields of ion channel structure and function and of ion channel disorders or channelopathies. A first aspect of this research focuses on the identification of novel ion channel mutants and interacting proteins involved in human disease, such as those affecting muscle and neural

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tissues. A second line of investigation is centered on the relationships between ion channel structure and function, and is aimed to elucidate the fundamental mechanisms of channel operation in normal and diseased states and to provide the basis for the understanding of pharmacological drug action on ion channels. Contact with research patients is offered, as a means of broadening research interests. Experience must include voltage and patch clamp. Knowledge of molecular biology is desired.

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8. Patient informationReferral information is indicated in the section for referring physicians. In order to maintain accuracy and to safeguard our resources, patients may ask us specific questions via e-mail, but should only be referred for assessment by physicians using the provided form [link to next section]. There may be fees associated with the evaluation.

The following resources are recommended on the basis of their completeness and usefulness. Their contents, however, are not our responsibility and patients are strongly encouraged to discuss any questions with their physicians.

www.geneclinics.org provides authoritative, professional information on genetic diseases and links to research and clinical testing laboratories. Contributions to the site are peer-reviewed. The site is maintained at the University of Washington and is funded by the National Institutes of Health. Access requires a free subscription.

www.colleengiblinfound.org, the site of the Colleen Giblin Foundation, established by the Giblin family for the charitable support of research and patient activities in the area of pediatric neurology and other diseases of development. The Foundation is staffed by parents and volunteers and hosts a variety of parent and patient-oriented events year-round in the New York-New Jersey area.

XXXXXXXXXXX (web address TBA), the home site of the Division of Pediatric Neurology at Columbia University. Includes a list of faculty and their publications and lists a large variety of patient-directed links related to pediatric neurological conditions.

www.columbia.edu, the site of Columbia University, the host institution of the Colleen Giblin Laboratories. The site includes a variety of useful academic and New York City resources.

www.nyph.org, the site of New York Presbyterian Hospital, which represents the clinical branch of Columbia and Cornell Universities in New York City and associated institutions.

www.childrensnyp.org, historically known as Babies and Children’s Hospital of New York, the pediatric medical center of New York Presbyterian Hospital at the Columbia University Medical Center, which houses the Irving Clinical Pediatric Research Center, where the study of patients with complex neurological and many other diseases of childhood is carried out.

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Information for institutionsInterested institutions desiring to establish a relation with the Colleen Giblin Laboratories or simply to link this site or to be linked to it should address a message to:

giblinlabs@neuro.columbia.edu [blind link]

9. Information for referring physiciansAt the present time, patients may be referred for evaluation of:

1. Glut-1 DS (glucose transporter type-1 deficiency syndrome)2. MELAS (mitochondrial encephalopathy, lactic acidosis and

stroke-like episodes)3. MERRF (mitochondrial encephalomyopahy with ragged-red

fibers)4. Pyruvate dehydrogenase deficiency5. Pyruvate carboxylase deficiency6. Ion channel disorders

There may be fees associated with the evaluation.

All referrals must be sent via regular mail by physicians and also signed patients and/or parents using this form [links to .DOC and .PDF referral forms]. Please read the form instructions and conditions carefully.

Upon review of this information, if warranted, further documentation and blood samples of the patient and immediate relatives may be requested. None of the items received will be returned. Therefore, only copies should be provided.

Mailing address:Colleen Giblin Laboratories, Box 81Columbia University Medical CenterNeurological Institute of New York710 West 168th StreetNew York, NY 10032

DisclaimerThe results of any evaluation or assessment may not be considered for clinical use and will be provided only on a research basis, unless specifically documented in writing by us. They are not intended to supersede or modify the clinical judgment of the referring or treating physicians. The staff of the Laboratories will not become treating or consulting physicians in any case, unless specifically documented in writing by us.

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The Colleen Giblin Laboratories, staff, its funding and supporting institutions will not be liable for any consequences derived from the knowledge or use of any information provided to the involved health professionals or to the individuals studied.

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10. Contact and support usIndividuals and patients are invited to send their comments and suggestions via e-mail or regular mail. Please include your first name and state or country of residence.

giblinlabs@neuro.columbia.edu [blind link]

Mailing address:Colleen Giblin Laboratories, Box 81Columbia University Medical CenterNeurological Institute of New York710 West 168th StreetNew York, NY 10032

Private donations support today's research efforts to learn more about neurological and muscular diseases of childhood. A gift to the Colleen Giblin Research Laboratories for Pediatric Neurology at Columbia University will bring all of us closer to our shared goal: more effective treatments and preventive therapies for children. We appreciate gifts at all levels. No gift is too small.

A memorial gift to the Colleen Giblin Research Laboratories Tree of Hope is a living tribute to a friend or loved one. You will receive acknowledgement of your tax-deductible contribution.

Support us [blind link to the Colleen Giblin Foundation site; link TBA]

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PubMed publication links:

Dr De Vivo (149 references):PubMed SEARCH STRING:

(DeVivo DC[Author] OR Vivo DC[Author] AND ((((((((((((((((("dna, mitochondrial"[MeSH Terms] OR Mitochondrial DNA[Text Word]) OR Columbia[All Fields]) OR ("mitochondria"[MeSH Terms] OR Mitochondria[Text Word])) OR ("abnormalities, multiple"[MeSH Terms] OR Multiple Abnormalities[Text Word])) OR ("melas syndrome"[MeSH Terms] OR MELAS syndrome[Text Word])) OR ("leigh disease"[MeSH Terms] OR Leigh Disease[Text Word])) OR ("prenatal diagnosis"[MeSH Terms] OR Prenatal Diagnosis[Text Word])) OR ("neuromuscular diseases"[MeSH Terms] OR Neuromuscular Diseases[Text Word])) OR ("reye syndrome"[MeSH Terms] OR Reye Syndrome[Text Word])) OR ("carnitine"[MeSH Terms] OR carnitine[Text Word])) OR ("brain neoplasms"[MeSH Terms] OR brain neoplasms[Text Word])) OR ("muscular diseases"[MeSH Terms] OR muscular diseases[Text Word])) OR ("muscular dystrophies"[MeSH Terms] OR muscular dystrophies[Text Word])) OR leukoencephalopathy[All Fields]) OR ("syndrome"[MeSH Terms] OR syndrome[Text Word])) OR ("brain"[MeSH Terms] OR brain[Text Word])) OR ("muscular atrophy"[MeSH Terms] OR muscular atrophy[Text Word])))

Juan Pascual (16 references):PubMed SEARCH STRING:

((Pascual JM[Author] AND (((((("monosaccharide transport proteins"[MeSH Terms] OR monosaccharide transport proteins[Text Word]) OR Columbia[All Fields]) OR ("glutamic acid"[MeSH Terms] OR glutamic acid[Text Word])) OR ("ion channels"[MeSH Terms] OR ion channels[Text Word])) OR ("ion channel gating"[MeSH Terms] OR ion channel gating[Text Word])) OR (potasium[All Fields] AND channels[All Fields]))) NOT ("acetates"[MeSH Terms] OR acetates[Text Word]))

Dong Wang (16 references):PubMed link:

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=PureSearch&db=PubMed&details_term=%28%22Wang%20D%22%5Bau%5D%20AND%20%28%28%28%28%22monosaccharide%20transport%20proteins%22%5BMeSH%20Terms%5D%20OR%20glucose%20transporter%5BText%20Word%5D%29%20OR%20Glut1%5BAll%20Fields%5D%29%20OR%20Glut%201%5BAll%20Fields%5D%29%20OR%20%28%22monosaccharide%20transport%20proteins%22%5BMeSH%20Terms%5D%20OR%20monosaccharide%20transport%20proteins%5BText%20Word%5D%29%29%29

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