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The National Organization for Rare Disorders (NORD), a 501(c)(3) organization, is a unique federation of voluntary health organizations dedicated to helping people with rare "orphan" diseases and assisting the organizations that serve them. NORD is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and service

Bipolar disorder is a common, complex genetic disorder, but the mode of transmission remains to be discovered. Many researchers assume that common genomic variants carry some risk for manifesting the disease. The research community has celebrated the first genome-wide significant associations between common single nucleotide polymorphisms (SNPs) and bipolar disorder. Currently, attempts are under way to translate these findings into clinical practice, genetic counseling, and predictive testing. However, some experts remain cautious. After all, common variants explain only a very small percentage of the genetic risk, and functional consequences of the discovered SNPs are inconclusive. Furthermore, the associated SNPs are not disease specific, and the majority of individuals with a "risk" allele are healthy. On the other hand, population-based genome-wide studies in psychiatric disorders have rediscovered rare structural variants and mutations in genes, which were previously known to cause genetic syndromes and monogenic Mendelian disorders.

As the leader of a project called Finding of Rare Disease Genes (FORGE) in Canada, Kym Boycott is one of the top experts in the world in the application of exome sequencing to solve rare disorders. The Canadian project involves a network of doctors and scientists all across the country looking to identify patients with rare childhood conditions and refer them when appropriate for sequencing and analysis.

Story of Aiden's Law, new genetic disorder that newborns in NY will be screened for.

That's why a paper published Thursday in the journal Genetics in Medicine is so remarkable. The paper identifies NGLY1 deficiency as an inherited genetic disorder, caused by mutations in the NGLY1 gene. The researchers have confirmed eight patients with these mutations who share several symptoms, including developmental delays, abnormal tear production and liver disease.

Researchers have made dramatic inroads into the study of polygenic and other complex human diseases, due in large part to knowledge of the human genome sequence, the generation of widespread markers of genetic variation, and the development of new technologies that allow investigators to associate disease phenotypes with genetic loci. Although polygenic diseases are more common than single-gene disorders, studies of monogenic diseases provide an invaluable opportunity to learn about underlying molecular mechanisms, thereby contributing a great deal to our understanding of all forms of genetic disease.

The discovery of this genetic disorder, reported in two papers in the journal Cell, demonstrates the growing power of new tools to uncover the causes of diseases that previously stumped doctors.

Jackson would eventually be diagnosed with the rare genetic eye disease Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV), which eventually causes blindness in those who carry the gene.

Sharmila Nikapota, the mother of a child with a rare genetic disorder, has high hopes for gene editing. "For us this technology holds the unimaginable dream of a cure," she says. Her 13-year-old daughter Sohana has spent her entire life covered in painful blisters, the result of a condition called recessive dystrophic epidermolysis bullosa.

Scientists and healthcare professionals initially exhibited little concern over the Zika virus even after evidence of human infection was first identified in 1952; Zika appeared to be both rare and unassociated with morbidity or mortality. Around 2015 all of this changed as journalists, scientists, public health officials, and laypeople scrambled to learn about its varied modes of transmission and devastating consequences (e.g., birth defects and autoimmune disorders). Although research continues to rapidly evolve, this case study directs students to reliable scientific sources (e.g., Centers for Disease Control and World Health Organization) that will likely continue to provide the most current information in order to explore questions such as: Where did the virus come from? How does it spread? What can we do to prevent it? Students will also consider the public health challenges and possible solutions associated with emerging infectious diseases. The case was originally written for an upper-level biology or public health course in which students already have some basic background knowledge regarding viruses, vaccines, and infectious disease.

This case study synthesizes students' knowledge of the central dogma and cell structure by examining a rare health disorder in order to understand protein targeting and its medical consequences. Students first identify the molecular alteration in affected members of a family with renal Fanconi syndrome as reported in the New England Journal of Medicine (2014). Students then use an online bioinformatics tool to analyze the wildtype and mutant proteins and examine their subcellular localization. Finally, students use this information to explain the symptoms of affected family members. The case is delivered with a PowerPoint presentation that includes a selection of brainstorming prompts and "clicker questions." Students complete a worksheet (included in the teaching notes) before class, making the activity suitable for a flipped classroom. A second worksheet (also included in the teaching notes) is completed during class. The case is written for an introductory biology course for majors, but could also be used as a unit capstone in a non-majors human biology course; the case is also scalable to upper division courses in physiology that specifically explore kidney function.

Genomics England, with the consent of participants and the support of the public, is creating a lasting legacy for patients, the NHS and the UK economy through the sequencing of 100,000 genomes: the 100,000 Genomes Project.

You might not think about your bones very often unless you break one. When you break a bone, the bone heals itself and begins to regrow. But, what if your muscles, tendons and ligaments turned to bone? What if you formed a second skeleton on top of the one you already have? That's what happens with Fibrodysplasia Ossificans Progressiva, or FOP.

I'm a carrier of a Jewish genetic disease. With that, here's my journey, which will explain why I'm so passionate about advocating for JScreen-a national organization that focuses on education and screening for Jewish genetic diseases.

When Beatrice Rienhoff was born in 2003 following an uneventful, full-term pregnancy, she was breathing well and had good color and muscle tone. She was on the small side, and there were some other subtle clues that something might be amiss. Her fingers and toes, especially on the right side of her body, were bent.