Welcome to the SIMD

Members login above or here.

• 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 open.  Note: abstract submission us complete.
  
  A satellite workshop on Cerebral Creatine Deficiency Syndromes (CCDS) will be hosted by the Association for Creatine Deficiencies on Monday, April 8. Note: Please RSVP on the CCDS workshop website (https://creatineinfo.org/simd/) by April 1st.
  
  
• Employment Opportunity:  The University of Oklahoma Health Sciences Center (OUHSC), Department of Pediatrics, seeks an ABMGG Board-certified or Board-eligible Lab Director for their Clinical Biochemical Genetics Lab. Posted 2/6/19 Refer to Oppotunities section.
  
  
• Employment Opportunity:  The Department of Pediatrics at the University of California, San Diego is currently seeking an individual at at the Assistant, Associate or Full Professor level to expand the Medical Genetics and Biochemical Genetics team. Posted 2/2/19 Refer to Oppotunities section.
  
  
• Employment Opportunity: University Hospitals Cleveland Medical Center (UHCMC) and Case Western Reserve University (CWRU) seek a biochemical geneticist/physician scientist. Posted 2/2/19 Refer to the Opportunities section.
  
  
• Collaboration Opportunity: The Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) Natural History Study Group (Drs. Gibson, Pearl, DiBacco, Opladen, Jeltsch, Krischer and Roullet) is announcing recruitment for an NIH-funded longitudinal clinical study of patients with this ultra-rare condition.  Posted 2/1/19 Refer to the Opportunities section.
  
  
• Fellowship Opportunity: CHOP Mitochondrial Medicine Fellowship Position, Request for Applications: The Mitochondrial Medicine Frontier Program at The Children's Hospital of Philadelphia is recruiting a dedicated MD or MD/PhD fellow in ANY CLINICAL FIELD who seeks to advance his/her knowledge in clinical care and clinical or translational research in mitochondrial disease. They are offering a new 1 year fellowship program, with rolling availability to start at any time in 2019.  Posted 1/22/19 Refer to the Opportunities section.
  
  
• 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.
  
  
• Research Opportunity:  Censa Pharmaceuticals is sponsoring a clinical study for adults and adolescents with primary tetrahydrobiopterin deficiency that is recruiting patients. Patients and parents may be interested in this opportunity. See information here. Posted 12/17/18 Refer to Oppotunities section.
  
  
• Employment Opportunity:  The Children's Hospital of Philadelphia is seeking candidates for several Assistant Professor positions in the non-tenure academic-clinician track. Posted 10/22/18 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.
  
  
• 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.
  
  
• 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

• Researchers at Thomas Jefferson University are interested in interviewing young adults with any type of metabolic condition about their experiences with managing their own care. See information here.
• 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.

• The Galactosemia Foundation hosts a biennial grant program open to various types of proposals. The foundation is currently seeking qualified peer reviewers from the scientific community to help identify the proposals that would best help us meet its goals. For more information, please see the Galactosemia Foundation website http://www.galactosemia.org/ or contact the research committee at research@galactosemia.org.

• University of California San Diego and Rady Children's Hospital San Diego.  Posted 12/7/18
• 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.

Check if your dues are paid or pay dues with our secure on-line system for statements and payment of dues.
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.