Welcome to the SIMD

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• Bylaws Revision:  Members should vote on the revision to the SIMD Bylaws discussed at our 2018 meeting. Refer to Summary Statement and Introduction to vote.
  
  
• Upcoming Meeting: The 41st Annual SIMD Meeting will be April 6-9, 2019. The venue will be the Hyatt Regency in Bellevue, Washington. There will be one shared day with the ACMG meeting which runs April 2-6 at the Washington State Convention Center in Seattle. Visit simd.org/meetings/simd2019 for more information. REGISTRATION is and ABSTRACT SUBMISSION are open. Please make plans.
  
  
• Service Opportunity/ FDA Network of Experts:  A recent agreement between SIMD and FDA will permit our members to serve as experts in consultation on a Network of Experts, to advise on specific topics and issues. We would like members who are interested in taking part to self-identify, with their specific areas of expertise. If you are interested, please see here.
  
  
• Employment Opportunity:  The Children's Hospital of Philadelphia is seeking candidates for several Assistant Professor positions in the non-tenure academic-clinician track. Refer to Oppotunities section.
  
  
• Recordati Award:  The ninth edition of the International Prize for Scientific Research Arrigo Recordati has announced the call for nominations. The 2019 €100.000 award will be dedicated to the promotion and recognition of excellence in orphan disease treatment research. The deadline for the preselection will be on 15th December 2018. See more information here.
  
  
• NPKUA Call for Research Proposals and Fellowships closes November 1. For further information, see here.
  
  
• IEMbase and proposed proposed Nosology of IEMs: The Knowledgebase of IEMs (IEMbase) has been an exciting project (editors Blau, Ferreira, Van Karnebeek and Wasserman) enthusiastically endorsed by SIMD. A new Nosology website just went live, and will be of interest: http://www.iembase.org/nosology.
  
  
• Dues payment: Dues should have been paid by the end of August! You may pay on-line or by check. Please see here
  
  
• Other meetings of note:
  *NORD Rare Disease Summit, Washington, DC. 15-16 Oct 2018.
  *Conf on Clin Res for Rare Diseases (CCRRD), Rockville, MD. 19 Nov 2018.
  Refer to www.simd.org/meetings

• The Leukodystrophy Center at the Children's Hospital of Philadelphia is launching an outcome study of metachromatic leukodystrophy and offering recognition and incentives to collaborators. Information is here.
• CDG CARE (Community Alliance and Resource Exchange), a nonprofit organization founded by families affected by Congenital Disorders of Glycosylation, is soliciting Letters of Intent for new research grants.Information is here.
• Others.

• Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.  Posted 10/22/18
• Quest Diagnostics, San Juan Capistrano, California Posted 8/16/18
• Department of Pediatrics, University of Oklahoma Health Sciences Center. Posted 8/15/18
• Division of Medical Genetics, Department of Pediatrics, University of California San Francisco. Posted 7/11/18
• Division of Medical Genetics, Department of Pediatrics, Dalhousie University. Posted 5/14/18
• The McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University School of Medicine. Posted 4/31/18
• The Victorian Clinical Genetics Services (VCGS), affiliated with the Murdoch Children's Research Institute (MCRI) located at the Royal Children's Hospital in Melbourne. Posted 4/15/18
• The Department of Pediatrics at the University of Wisconsin-Madison School of Medicine and Public Health. Posted 3/7/18
• The Department of Pediatrics/Division of Medical Genetics at the University of Pittsburgh, and the Center for Rare Disease Therapy at the Children's Hospital of Pittsburgh. Posted 2/15/18
• The Division of Medical Genetics in the Department of Pediatrics at SUNY, Stony Brook School of Medicine. Posted 2/6/18
• Oregon Health and Sciences University (Depts of Molecular & Medical Genetics and Pediatrics). Posted 1/18/18
• The Ohio State University/ Nationwide Children's Hospital:.
  
• LabCorp: Clinical Biochemical Genetics Laboratory Director. Posted 1/16/18
  
• Westmead Hospital in Sydney, Australia.
• Seattle Children's Hospital
• National Human Genome Research Institute (NHGRI)
• University of California Irvine: Clinical Geneticist
• Center for Drug Evaluation and Research at FDA: Medical Officer
• ... and others

• Creatine Transporter Deficiency: Lumos Pharma is sponsoring a multi-year observational clinical study of males with CTD that is currently recruiting individuals. Patients' families may be interested in this opportunity.
• Survey for Patients with long-chain fatty acid oxidation disorders:  Ultragenyx is sponsoring a confidential survey to ask caretakers and patients with LC-FAOD about experience and burdern of disease. See information here and here.

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Note: there are benefits, including access to teaching materials and discounts for registration to our meetings if your dues are up-to-date. Please check here to confirm that your dues are paid.