Sunday, April 7, 2013

What is an Expert Doctor for the APF? Time Training Bio's Awards and Reading

Can you define what an "Expert" is? 

 The meaning of an expert is having, involving, or displaying special skill or knowledge derived from training or experience. 

Why is this so important to know what this term means in modern day medicine?  Many people today are rushed, have high anxiety, work, family and the list goes on.  So "life" is already complicated.  Now you add a rare disease to your list, now every thing changes in your life.  You want to know all the answers right then and what to do, but its not easy with every one's opinions and what is right for you. 

 So back to the term "Expert" & "Porphyria." 

 Why have an Expert Porphyria Doctor from the American Porphyria Foundation?  Aren't they just a normal MD? 

 Let's share some valuable facts about these very Doctor's.

  • They have been featured in major medical Journals such as: Articles of Excellence, New England Journal of Medicine, Annals of Medicine  

  • Has your Doctor ever written a major medical text books about your disease?  What a privilege that the APF "Expert Doctors have!  See below Bio's and Medical text books from them **

  • Are they known as Experts/Experienced with the (NIH)? 
  •  AKA~ National Institute of Health
Do you know if your Doctor has ever been involved with Major Research Projects?  The APF Doctors have been involved with so many over the years.  At this time we are IN NEED of VOLUNTEERS to sign up for studies, you can sign up below by clicking on this link:
  • Has your Doctor attended many of the Porphyria Conferences, traveling through out all parts of the world speaking, teaching and sharing valuable knowledge?
  • Are they world renown among their peers in the field of Prophyria?
  • We even have an Scientific Advisory Board is made up of the world's foremost experts in porphyria management, diagnosis, and research. They have written or approved the medical information on this website.
  • We would love to share with you a few Bio's on these "Expert Porphyria Doctors", what extensive training they have achieved, the medical textbooks they have written, the studies and research programs and how they have been honored. We Thank each Doctor that has dedicated their time and life to help us those who struggle with Porphyria.  We look forward to supporting our Programs called "Protect the Future" (PTF) in your donations to the APF to this cause to continue to finding these rare gems in the medical field. 

  • Learn about: 

Joseph Bloomer, MD, Professor, Liver Center Director

Dr. Bloomer is a Professor of Medicine and the Director of the UAB Liver Center at UAB.  He received his medical degree from Western Reserve Medical School and completed his fellowship training in gastroenterology at Yale University.  Dr. Bloomer is considered to the one of the leading experts in the treatment of hepatitis B and porphyria, and is world renowed for his research in genetic diseases of the liver.  Since joining UAB in 1995 he has aided in the growth of services available to patients suffering from liver related diseases.   Dr. Bloomer is active in the Faculty practice treating patients suffering from all liver related disorders.  He is also active in both basic science and clinical research with a focus in liver disease, porphyria, genetics, and hepatitis B.  He also has been honored with the highest award the Presidential Award among over 8,000 specialists.
Recent Publications
2.      Intermittent unexplained abdominal pain: is it porphyria?
Bloomer JR, McGuire BM. Clin Gastroenterol Hepatol. 2007 Nov;5(11):1255-8; quiz 1244

Biochemical abnormality in erythropoietic protoporphyria: cause and consequences.






Karl E. Anderson, M.D.

Professor, Division of Gastroenterology and Hepatology

Karl E. Anderson, M.D.
Professor of Preventive Medicine and Community Health
Internal Medicine, and Pharmacology and Toxicology
University of Texas Medical Branch
A graduate of the Johns Hopkins University School of Medicine, Dr. Anderson completed his residency and postgraduate training in gastroenterology at the New York Hospital-Cornell Medical Center. He was a member of the faculty at the Rockefeller University, Cornell University Medical College and New York Medical College before coming to UTMB in 1987. He directs the Division of Human Nutrition in the Department of Preventive Medicine and Community Health, and is an active clinical investigator particularly on the General Clinical Research Center (GCRC), where he is also Associate Program Director. He is PI for UTMB's NIH K30 grant that supports a variety of clinical research education programs, Director of the Clinical Research Education Office, and Director of the Graduate Program (PhD or MS) in Clinical Science, which is suited particularly for physicians seeking advanced training in clinical research.
Research Interests
Dr. Anderson's research interests include (i) pathogenesis of human porphyrias and identification of factors that increase susceptibility; (ii) development of new therapies for porphyrias; (iii) effects of diet on drug metabolism in humans, especially by cytochrome P450 enzymes, and on circulating hormone levels; (iv) collaborative work on effects of soy feeding in humans on breast cancer risk.
Clinical Interests
Dr. Anderson clinical interests include human porphyrias, metabolic and nutritional aspects of liver disease, and general clinical gastroenterology and hepatology.
Selected Publications
  • Egger NE, Goeger DE, Payne DA, Miskovsky EP, Weinman SA, Anderson KE. Porphyria cutanea tarda: multiplicity of risk factors including HFE mutations, hepatitis C and inherited uroporphyrinogen decarboxylase deficiency. Digestive Diseases and Sciences 2002; 47:419-426.
  • Anderson KE, Bloomer JR, Bonkovsky HL, Kushner JP, Pierach CA, Pimstone NR, Desnick RJ: Recommendations for the diagnosis and treatment of the acute porphyrias. Annals of Internal Medicine 2005;142:439-50.
  • Huang Y, Cao S, Nagamani M, Anderson KE, Grady J, Lu L-JW: Decreased circulating levels of tumor necrosis factor-alpha (TNF-a) in postmenopausal women during consumption of soy containing isoflavones. Journal of Clinical Endocrinology and Metabolism 2005;90:3956-62.
  • Nhan S, Anderson KE, Nagamani M, Grady JJ, Lu LJ: Effect of a soymilk supplement containing isoflavones on urinary f2 isoprostane levels in premenopausal women. Nutrition and Cancer 2005;53(1):73-81.
  • Akagi R, Kato N, Inoue R, Anderson KE, Jaffe EK, Sassa S: delta-Aminolevulinate dehydratase (ALAD) porphyria: The first case in North America with two novel ALAD mutations. Molecular Genetics and Metabolism. 2006:87:329-336.
  • Akagi R, Inoue R, Muranaka S, Tahara T, Taketani S, Anderson KE, Phillips JD, Sassa S. Dual gene defects involving d-aminolaevulinate dehydratase and coproporphyrinogen oxidase in a porphyria patient. British Journal of Haematology. 2006;132:237-243.
  • Anderson KE, Collins S. Open-label study of hemin for acute porphyria: clinical practice implications. American Journal of Medicine. 2006;119:19-24.
  • Anderson KE: The porphyrias (Chapter 72), in Boyer T, Wright T, Manns M (eds): Zakim and Boyer's Hepatology: A Textbook of Liver Diseases. Philadelphia, Elsevier, 2006, pp 1391-1432. 9.
  • Anderson KE, Porphyria cutanea tarda – a possible role for ascorbic acid (Editorial) Hepatology, 2007;45(1):6-8. 10.
  • Madan P, Schaaf CP, Vardhan P, Bhayana S, Chandra P, Anderson KE: Hans Gunther and his disease. Photodermatol Photoimmunol Photomed 2007;23(6):261-3.
  • Desnick RJ, Astrin KH, Anderson KE. Heme biosynthesis and the porphyrias (Chapter 28). In: Suchy, FJ, Sokol, R,J, Balistreri, WF, eds. Liver Disease in Children, 3rd edition. Cambridge: Cambridge University Press, 2007, pp 677-693.
  • Anderson KE. The porphyrias (Chapter 223). In: L. Goldman and D. Ausiello., eds. Cecil Textbook of Medicine, 23rd edition, Philadelphia, W.B. Saunders Co., 2007, pp 1585-1593.


 Robert J. Desnick, Ph.D., M.D.



Robert J. Desnick, Ph.D., M.D., is a human geneticist whose research accomplishments include significant developments in disease gene discovery, inherited metabolic diseases, and the treatment of genetic diseases, including the development of enzyme replacement therapy for Fabry disease.
Desnick is the Dean for Genetics and Genomics, Interim Director of the Mount Sinai Genomics Institute, and Professor and Chair of the Department of Genetics & Genomic Sciences at TheMount Sinai School of Medicine in New York City. Additionally, he is Physician-in-Chief of the Department of Medical Genetics and Genomics at The Mount Sinai Hospital.
Desnick is the author of more than 600 peer-reviewed articles in scientific journals, 200 book chapters and is the editor of nine books. He holds 13 patents and is included in Castle Connelly's lists of Best Doctors in America and Best Doctors in New York and New York Magazine’s list of the Best Doctors every year since the inception of the rating. He was elected to the Institute of Medicine in 2004.

Desnick received his undergraduate degree from the University of Minnesota in 1965. He earned a Ph.D. in genetics from the University of Minnesota Graduate School in 1970 and his M.D. from the University of Minnesota Medical School in 1971. He completed an internship and a residency in pediatrics at the University of Minnesota Hospitals and joined the faculty at the University of Minnesota, where he rose to the rank of Associate Professor of Cell Biology and Genetics and Pediatrics.Biography

Desnick joined the staff at Mount Sinai Medical Center in 1977, as the Arthur J. and Nellie Z. Cohen Professor of Pediatrics and Genetics and Chief of the Division of Medical and Molecular Genetics in the Department of Pediatrics. He was the first Chairman of the newly-created Department of Human Genetics in 1993, which was renamed the Department of Genetics & Genomic Sciences in 2006. In 2009, he became Dean for Genetics & Geonomics and Interim Director of the newly established Genomics Institute at Mount Sinai. He is currently Professor of Pediatrics, Oncological Sciences, Obstetrics, Gynecology and Reproductive Science, Gene and Cell Medicine and Professor and Chair of Genetics & Genomic Sciences.
Desnick is an elected member of the Society for Pediatric Research, the American Pediatric Society, the American Society for Clinical Investigation, and the Association of American Physicians. He is an elected Fellow of the American Academy for the Advancement of Science, and an elected member of the Institute of Medicine of the National Academy of Sciences. His research awards include the E.H. Ahrens, Jr. Award for Research from the Association for Patient-Oriented Research and the Award for Excellence in Clinical Research from the National Center for Research Resources from the National Institutes of Health.
Desnick is a past director of the American Board of Medical Genetics, a Founding Diplomat of the American College of Medical Genetics, a past member of the board of directors of the American College of Medical Genetics Foundation, and a founder and past-president of the Association of Professors of Human and Medical Genetics. He is past chair of the Association of American Medical Colleges (AAMC), past member of the AAMC Board of Directors and past chair of the AAMC Council of Academic Societies.

Fellowships and awards:

Partial list:
·         U.S. Public Health Service Fellowship in Genetics, 1968–1970
·         Ross Award in Pediatric Research, 1972
·         C.J. Watson Award, University of Minnesota, 1973
·         NIH Research Career Development Award, 1975–1980
·         E. Mead Johnson Award for Research in Pediatrics of the American Academy of Pediatrics, 1981
·         Honorary Member, Japanese Society for Inherited Metabolic Diseases, Elected 1985
·         Correspondent Member, Societá Italiana di Pediatria, Elected 1991
·         Honorary Member, Societá Italiana di Pediatria, Elected 1999
·         Outstanding Faculty Award, Mount Sinai School of Medicine, 1991
·         NIH MERIT Award, 1992–2004
·         J. Lester Gabrilove Award for Medical Research, 2003
·         Jacobi Medal, Mount Sinai Alumni Association, 2004
·         Edward H. Ahrens, Jr. Award for Research from the Association for Patient-Oriented Research, 2004
·         University of Minnesota Medical School Distinguished Alumni Award, 2004
·         Doctor of Science, Honoris Causa, Mount Sinai School of Medicine of New York University, 2004
·         Elected Senior Fellow, American Association for the Advancement of Science, 2004
·         Elected Member, Institute of Medicine of the National Academy of Sciences, 2004
·         Award for Excellence in Clinical Research from the National Center for Research Resources, NIH, 2005
·         Albion O. Bernstein, MD Award for Contributions in Disease Prevention from the New York State Medical Society, 2005


Partial List:
·         Research Training For Medical Geneticists at The Mount Sinai School of Medicine, National Institute of General Medical Sciences
·         Porphyria Rare Disease Clinical Research Consortium (rdcrc), National Institute of Diabetes and Digestive and Kidney Diseases
·         Mental Retardation and Developmental Disabilities, National Institute of Child Health and Human Development
·         Porphyrias and Human Heme Biosynthesis, National Institute of Diabetes and Digestive and Kidney Diseases
·         Alpha Galactosidases A And B -- Molecular and Cellular Mechanisms, National Institute of Diabetes and Digestive and Kidney Diseases
·         Gene Therapy: Lysosomal Diseases With Mental Retardation, National Institute of Child Health & Human Development


Patent No.
Method for enhancing mutant enzyme activities in lysosomal storage disorders
Acid sphingomyelinase protein and methods of treating type B Niemann-Pick disease
Cells expressing an .alpha.gala nucleic acid and methods of xenotransplantation
Methods for determining susceptibility to lead poisoning
Methods for the treatment of bone resorption disorders, including osteoporosis
Acid sphingomyelinase gene
Acid sphingomyelinase gene and diagnosis of Niemann-Pick disease
Method and kits for detecting a polymorphism in delta.-aminolevulinate dehydratase gene which is associated with an altered susceptibility to lead poisoning
Cloning and expression of biologically active alpha-galactosidase A as a fusion protein
Cloning and expression of biologically active alpha N-acetylgalactosaminidase
Cloning and expression of biologically active alpha-galactosidase A
Cloning and expression of biologically active alpha-N-acetylgalactosaminidase
Cloning and expression of biologically active human alpha-galactosidase A


·         Desnick, R.J., Bernlohr, R.W. and Krivit, W., eds.: Enzyme Therapy in Genetic Diseases, Birth Defects Original Article Series. Vol. IX, No. 2. The National Foundation, New York, pp. 236, 1973. ISBN 0-683-06367-7
·         Rubenstein, I., Phillips, R.L., Green, C.E. and Desnick, R.J., eds.: Molecular Genetic Modification of Eucaryotes, Academic Press, New York, pp. 171, 1977. ASIN B000N5X2F2
·         Desnick, R.J., ed.: Enzyme Therapy in Genetic Diseases: 2, Alan R. Liss, Inc., New York, pp. 544, 1980. ISBN 0-8451-1035-7
·         Desnick, R.J., Patterson, D.F. and Scarpelli, D.F., eds.: Animal Models of Inherited Metabolic Diseases. Alan R. Liss, Inc., New York, pp. 519, 1982. ASIN B0028IQ4KC
·         Desnick, R.J., Gatt, S. and Grabowski, G.A., eds.: Gaucher Disease: A Century of Delineation and Research, Alan R. Liss, Inc., New York, pp. 740, 1982. ISBN 0-8451-0095-5
·         Bishop, D.F. and Desnick, R.J., eds.: Assays of the Heme Biosynthetic Enzymes. Enzyme 28:1-232, 1982. ISBN 978-3-8055-3573-1
·         Tada, K., Colombo, J.P. and Desnick, R.J., eds.: Recent Advances in Inborn Errors of Metabolism. Karger, Basel, pp. 332, 1987. ISBN 3-8055-4772-2
·         Desnick, R.J., ed.: Treatment of Genetic Diseases, Churchill Livingstone, Inc., New York, pp. 331, 1991. ISBN 0-443-08773-3
·         Desnick, R.J. and Kaback, M.M., eds.: Tay-Sachs Disease, Academic Press, pp. 1–360, 2001. ISBN 0-12-017644-0


·         Ziegler, RJ, Cherry, M, Barbon, CM, Li, C, Bercury, SD, Armentano, D, Desnick, RJ, Cheng, SH: Correction of the biochemical and functional deficits in Fabry mice following AAV8-mediated hepatic expression of alpha-galactosidase A Mol. Ther. 15:492-500, 2007. PMID 17191071
·         Germain, DP, Waldek, S, Banikazemi, M, Bushinsky, DA, Charrow, J, Desnick, RJ, Lee, P, Loew, T, Vedder, AC, Abichandani, R, Wilcox, WR, and Guffon, N: Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease J. Am. Soc. Nephrol. 18:1547-1557, 2007. PMID 17409312
·         Grace, ME, Balwani, M, Nazarenko, I, Prakash-Cheng, A, and Desnick, RJ: Type 1 Gaucher disease: Null and hypomorphic novel chitotriosidase mutations- implications for diagnosis and therapeutic monitoring. Hum. Mut. 28:866-873, 2007. PMID 17464953
·         Desnick, R.J: Prenatal diagnosis of Fabry disease Prenat. Diag. 27:693-694, 2007. PMID 17533632
·         Scott, SA, Edelmann, L, Kornreich, R, Erazo, M and Desnick, RJ: CYP2C9, CYP2C19, and CYP2D6 allele frequencies in the Ashkenazi Jewish population. Pharmacogenomics 8:721-730, 2007. PMID 18240905
·         Yasuda, M, Domaradzki, M, Bishop, DF, and Desnick, RJ: Acute intermittent porphyria: Vector optimization for gene therapy J. Gene Med. 9:806-911, 2007. PMID 17654633
·         Cunha, L, Kuti, M, Bishop, DF, Mezei, M, Zeng, L, Zhou, MM and Desnick, RJ: Human uroporphyrinogen III synthase: NMR-based mapping of the active site. Proteins 71:855-873, 2008. PMID 18004775
·         Scott, SA, Edelmann, L, Kornreich, R and Desnick, RJ: Warfarin pharmacogenetics: CYP2C9 and VKORC1 genotype predict different sensitivities and resistance frequencies in the Ashkenazi and Sephardi Jewish populations. Am. J. Hum. Genet. 82:495-500, 2008. PMID 18252229
·         McGovern, MM, Wasserstein, MP, Giugliani, R, Bembi, B, Vanier, M, Mengel, E, Brodie, SE, Mendelson, D, Skloot, G, Schuchman, EH Kuriyama, N, Desnick, RJ, and Cox, GF: A prospective, crosssectional survey study of the natural history of Niemann-Pick disease Type B. Pediatrics 122: e341-349, 2008. PMID 18625664
·         Schiffmann, R, Banikazemi, M, Bultas, J, Linthorst, GE, Packman, S, Warnock, D, Asger Sorensen, S, Wilcox, WR, and Desnick, RJ: Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy Nephrol. Dial. Transplant. 24:2102-2111, 2009. PMID 19218538
·         Benjamin, ER, Flanagan, JJ, Schilling, A, Chang, HH, Agarwal, L, Datz, E, Wu, X, Pine, C, Wustman, B, Desnick, RJ, Lockhart, DJ, and Valenzano, KJ: The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines. J. Inherit. Dis. 3:424-440, 2009. PMID 19387866
·         Hwu, WL, Chien, YH, Lee, NC, Chiang, SC, Huang, AC, Yeh, HY, Chao, MC, Lin, SJ, Kitagawa, T, Hse, LW, Desnick, RJ, and Hsu, LW: Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset mutation, IVS4+919G>A. Hum. Mutat., June 26, 2009. PMID 19621417
·         Scott, SA, Jaremko, M, Lubitz, S, Halperin, JL, Desnick, RJ: CYP2C9*8 is prevalent in African-Americans: implications for pharmacogenetic dosing. Pharmacogenomics 10:1243-1255, 2009. PMID 1963669
·         Galende, E., Karakikes, I, Edelmann, L, Desnick, RJ, Kerenyi, T, Khoueiry, G, Lafferty, J, McGinn, JT, Brodman, M, Fuster, V, Hajjar, RJ, and Polgar, K Amniotic fluid cells are more efficiently reprogrammed to pluripotency than adult cells. Cloning Stem Cells [Epub] Dec. 17, 2009. PMID 20017623
·         Khanna, R, Soska, R, Lun, Y, Feng, J, Frascella, M, Young, B, Brignol, N, Pellegrino, L, Sitaraman, SA, Desnick, RJ, Benjamin, ER, Lockhart, DJ and Valenzano, KJ: The pharmacological chaperone 1-deoxygalactonojirimycin reduces tissue globotriaosylceramide levels in a mouse model of Fabry disease. Mol. Ther. 18:23-33, 2010. PMID 19773742
·         Yasuda, M, Bishop, DF, Gan, L, Fowkes, M, Ziegler, R, Cheng, SH, and Desnick, RJ: AAV8-mediated gene therapy prevents induced biochemical attacks of acute intermittent porphyria. Mol. Ther. 18:17-22, 2010. PMID 19861948
·         Wozniak, M, Kittner, S, Tuhrim, S, Cole, J, Stern, B, Dobbins, M, Grace, M, Nazarenko, I, Dobrovolny, R, McDade, E, Desnick, RJ: Frequency of unrecognized Fabry disease among young European-American and African-American men with first ischemic stroke. Stroke 41: 78-81, 2010. PMID 20007919

We hope that you could see just a glimpse of these wonderful Doctors why it is so important to educate your self, your family and your Doctors about Porphyria, getting the facts about testing, diagnosing and treatment with an Expert APF Doctor.  Please feel free to print or save this document if you have any additional questions please contact the American Porphyria Foundation @ 866-apf-3635 or visit to ask how you can get a complete listing detail in Doctors in your area.  

Remember....Research is the Key to your cure! 

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