Genetics

Momentum 

Family finds answers, hope after discovery of rare genetic disorder

March 14, 2018March 14, 2018 Momentum 2 Comments Autism, Autism Spectrum Disorder, Bainbridge-Ropers Syndrome, Dr. Robin Kochel, Genetics, Nicole Blanton, SPARK for autism

When Della Calder was just one year old, Caitlin Calder noticed troubling issues with her daughter’s early development. “We started

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PolicyWise 

The gene “goalkeeper”: Exploring Spanish interpretation of genetic information

December 8, 2017December 8, 2017 Clarice 0 Comments Amanda Gutierrez, Genetics, Interpretation, Language Barriers, Spanish, Translation

Imagine you are a patient in a foreign country where you don’t speak the language. You meet with a doctor

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From The Labs 

How having too much or too little of CHRNA7 can lead to neuropsychiatric disorders

November 28, 2017 Ana Rodríguez 0 Comments Autism, calcium channel, cellular stress, CHRNA7, cognitive impairment, genetic condition, Genetics, Human genetics, neuron, Neuropsychiatric disorders, neuropsychiatric disordrs

Studying the genetic code allows researchers to know whether some patients with neuropsychiatric disorders either have extra copies of the

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PolicyWise 

Intelligence and genetic essentialism

June 16, 2017June 15, 2017 Clarice 1 Comment Center for Medical Ethics and Health Policy, Cody Brannan, Discrimination, DNA, Genetic Essentialism, Genetics, Genomics, Health Policy Program, Neuroethics, Neuroscience, Research, Science Policy

In 1869, Francis Galton reasoned that if human intellect was determined to be hereditary, then it “would be quite practicable

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From The Labs 

CRKL in 22q11.2; a key gene that contributes to common birth defects

May 24, 2017 Ana Rodríguez 0 Comments 22q11.2, Birth defects, CRKL, cryptorchidism, DiGeorge syndrome, Genetics, genitourinary birth defects, hypospadias, kidney birth defects, mouse model

The 22q11.2 region of human chromosome 22 is a hotspot for a variety of birth defects. Scientists learned about this

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PolicyWise 

Trade secrets and health data access: How policy plays a role

May 19, 2017May 19, 2017 Clarice 0 Comments Center for Medical Ethics and Health Policy, Christi Guerrini, data sharing, Defend Trade Secrets Act, Genetics, Health Law, HIPAA, law, Patent Law, Trade Secret

A “quiet revolution” in medicine is underway that involves tailoring care to each patient’s unique genetic and health profile. To

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From The Labs 

Largest study of malignant brain tumors finds new genetic markers for two distinct glioma subtypes

May 5, 2017 Ana Rodríguez 0 Comments brain tumor, genetic markers, Genetics, glioblastoma, Glioma

In 2017, approximately 24,000 people will be diagnosed with malignant brain tumors and 17,000 will die from the disease in

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From The Labs 

ABL1 gene plays a role in cancer and in a developmental disorder

April 18, 2017 Ana Rodríguez 0 Comments ABL1 gene, Cancer, Cardiovascular Disease, Genetics, genomic data, Human genetics, Marfan syndrome, Philadelphia chromosome

The human gene ABL1 is well-known for its association with cancer. In this case, a piece of chromosome 9 containing

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From The Labs 

Mutations in CWC27 result in spectrum of conditions

April 13, 2017 Ana Rodríguez 0 Comments blindness, craniofacial and skeletal problems, CWC27, Genetics, Retinitis pigmentosa, spliceosome, whole exome sequencing

Mingchu Xu searches for genes linked to retinitis pigmentosa, a condition of the retina characterized by progressive development of night blindness

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From The Labs 

No SOX9, no cartilage; and how DDRGK1 causes a rare human skeletal dysplasia

April 11, 2017 Ana Rodríguez 0 Comments cartilage, DDRGK1, dwarfism, Genetics, SEMD, Skeletal dysplasia, SOX9

SEMD, Shohat-type spondyloepimetaphyseal dysplasia, is a rare type of skeletal dysplasia that affects the development of cartilage and results in

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