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 CAHF's Formal Response to ACOG's Committee Opinion on Spinal Muscular Atrophy June 2009 The American College of Obstetricians and Gynecologists' (ACOG) Committee on Genetics concludes in a "Committee Opinion on Spinal Muscular Atrophy" published in the May 2009 issue of Obstetrics & Gynecology that "preconception and prenatal screening for SMA is not recommended in the general population at this time." The Claire Altman Heine Foundation (CAHF) respectfully disagrees with and opposes the Committee's recommendation and disputes several of the premises and assertions on which it is based. more  CAHF submits a "Letter to the Editor" regarding a factual error May 12, 2009 ACOG recently issued a Committee Opinion on Spinal Muscular Atrophy. CAHF submitted a "Letter to the Editor" regarding a factual error contained within the Opinion and commented on the recommendations. more ACOG Committee Opinion on Spinal Muscular Atrophy May 2009 ACOG Committee Opinion on Spinal Muscular Atrophy more CAHF Submitted Public Comments on "Public Consultation Draft Report on Gene Patents and Licensing Practices and Their Impact on Patient Access to Gene May 11, 2009 CAHF's submitted public comments on a draft report to the Secretary of Health and Human Services "Public Consultation Draft Report on Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests." more SACGHS's draft report to the Secretary of Health and Human Services, "Public Consultation Draft Report on Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests." April 2009 This public consultation draft report is the result of work that began in 2004, when SACGHS identified the effect of gene patents and licensing practices on patient and clinical access to genetic tests as a high-priority issue that warranted further study. more CAHF Patent Position Statement March 2009 CAHF Patent Position Statement: Pan-Ethnic Population Based Carrier Screening and The SMA Patent more Athena Diagnostics Offers Genetic Test for Diagnosing Spinal Muscular Atrophy WORCESTER, Mass. (January 26, Athena Diagnostics, part of Thermo Fisher Scientific, offers a comprehensive test to identify carriers and diagnose prenatal cases of spinal muscular atrophy (SMA), a disease that causes the degeneration of lower motor neurons and is the second leading cause of death among infants. With this advanced testing and diagnostic capability, physicians can screen couples who are planning to start a family, or who are already pregnant, for mutation in the recessive SMN1 gene, a genetic variation that will ultimately determine if their infant will be born with SMA. more Genzyme Genetics Announces Launch of Carrier Testing and Prenatal Diagnosis for Spinal Muscular Atrophy April 14, 2008 Motor Neuron Disease is Leading Cause of Death for Infants Genzyme Genetics, a business unit of Genzyme Corporation (NASDAQ: GENZ), announced today that it is the first national laboratory specializing in reproductive testing to provide population carrier and prenatal diagnostic testing for spinal muscular atrophy (SMA), the most common inherited cause of infant mortality. more Population-based Carrier Screening for Single Gene Disorders: Lessons Learned and New Opportunities March 2008 The National Human Genome Research Institute (NHGRI) and the National Institute of Child Health and Human Development (NICHD) jointly sponsored a workshop in February 2008 to examine carrier screening policy featuring SMA as an exemplar disease. This workshop represents the first federally sponsored formal review of carrier screening policy in 11 years. Please click on the link to view the introduction, summary of presentations, reports from small groups and concluding remarks from this presentation. more SMA News Release December 8, 2008 Gene Test for Spinal Muscular Atrophy Should Be Available to All Couples, According to New Statement from The American College of Medical Genetics more |
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