Providing competency-based family medicine residency training in substance abuse in the new millennium: a model curriculum

<p>Abstract</p> <p>Background</p> <p>This article, developed for the Betty Ford Institute Consensus Conference on Graduate Medical Education (December, 2008), presents a model curriculum for Family Medicine residency training in substance abuse.</p> <p>Methods</p> <p>The authors reviewed reports of past Family Medicine curriculum development efforts, previously-identified barriers to education in high risk substance use, approaches to overcoming these barriers, and current training guidelines of the Accreditation Council for Graduate Medical Education (ACGME) and their Family Medicine Residency Review Committee. A proposed eight-module curriculum was developed, based on substance abuse competencies defined by Project MAINSTREAM and linked to core competencies defined by the ACGME. The curriculum provides basic training in high risk substance use to all residents, while also addressing current training challenges presented by U.S. work hour regulations, increasing international diversity of Family Medicine resident trainees, and emerging new primary care practice models.</p> <p>Results</p> <p>This paper offers a core curriculum, focused on screening, brief intervention and referral to treatment, which can be adapted by residency programs to meet their individual needs. The curriculum encourages direct observation of residents to ensure that core skills are learned and trains residents with several "new skills" that will expand the basket of substance abuse services they will be equipped to provide as they enter practice.</p> <p>Conclusions</p> <p>Broad-based implementation of a comprehensive Family Medicine residency curriculum should increase the ability of family physicians to provide basic substance abuse services in a primary care context. Such efforts should be coupled with faculty development initiatives which ensure that sufficient trained faculty are available to teach these concepts and with efforts by major Family Medicine organizations to implement and enforce residency requirements for substance abuse training.</p

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of spliceosomes. Here, we have identified 30 affected individuals from 22 unrelated families presenting with developmental delay, hypotonia, and cerebellar ataxia harboring biallelic variants in the GEMIN5 gene. Mutations in GEMIN5 perturb the subcellular distribution, stability, and expression of GEMIN5 protein and its interacting partners in patient iPSC-derived neurons, suggesting a potential loss-of-function mechanism. GEMIN5 mutations result in disruption of snRNP complex assembly formation in patient iPSC neurons. Furthermore, knock down of rigor mortis, the fly homolog of human GEMIN5, leads to developmental defects, motor dysfunction, and a reduced lifespan. Interestingly, we observed that GEMIN5 variants disrupt a distinct set of transcripts and pathways as compared to SMA patient neurons, suggesting different molecular pathomechanisms. These findings collectively provide evidence that pathogenic variants in GEMIN5 perturb physiological functions and result in a neurodevelopmental delay and ataxia syndrome