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Genetic Disorders
Autism is characterized by impaired social interactions, problems with verbal and nonverbal communication and repetitive behaviors.
… what others are thinking or feeling because they don't understand social cues provided by tone of voice or facial expressions and they don't watch other people's faces to pick up on these cues. …
News Release
A new genome-based technology for demystifying undiagnosed illnesses - even rare childhood diseases - is moving into general medical practice.
… would have suggested just 10 years ago. At that time, I don't think anybody would have taken you seriously if you had … to as whole-genome or whole-exome sequencing, they don't cover 100 percent of the genome or exome. Because of …
News Release
Mothers may be able to reduce guilt over their children's inherited obesity guilt by being more careful in the future about their children's diet.
… and there is much about this heritability that we don't know," Dr. Persky said. "Any of the clinical … can lessen patients' suspicion that their doctors don't like them. The study produced the first empirical …
News Release
The Clinical Sequencing Exploratory Research Consortium has offered an ethical framework to guide pediatricians in pursuing clinical sequencing studies.
… for any medical procedure; very young children simply don't know what is going on. Older children can voice … permission on their children's behalf. But the parents don't have the last word. If they refuse permission for a …
Staff
Dr. Leslie Biesecker is a clinical and molecular geneticist in and the chief of NHGRI's Center for Precision Health Research.
… Thakker N, Corcoran CM, Donnai D, Perveen R, Schneider A, Hadley DW, Tifft C, Zhang L, Wilkie AOM, van der Smagt J, …
News Release
Principal investigator-mentors guide new scientists to their next chapter.
… underrepresented minorities in science and medicine often don’t have the tools or even know about these training … and willing to share their expertise. “Do your best work, don’t compare yourself to others and learn from the …
News Release
Knowing your family health history can aid in detecting unique disease risks and lead to better prevention and treatment.
… to the best ways to understand your disease risk when you don't know your family health history.   Chris Marcum, Ph.D., … into a big issue with family health history: what if you don't know it? There are many reasons that this may be the …
Educational Resources
NHGRI participates in the South By Southwest (SXSW) conference to help increase genomic literacy.
… racial identity. So, we ask, is there a world in which we don’t use race to describe ourselves? Do we look at … Daulton … Genomics has become such commonplace that we don’t realize how it has completely integrated into parts of …
News Release
Research points to the effects of nutrients in how DNA mutates in the mitochondria.
… the background noise in looking for mutations. “We also don’t know if this has any biological impact,” Dr. … is that there are thousands of mitochondria per cell. We don’t know the threshold of how many mitochondria need to …
News Release
NHGRI hosted a CRISPR "Ask Me Anything" with Jennifer Doudna, Ph.D., reaching 10.5 million people worldwide.
… Challenges I've encountered include being told that "girls don't do science" (high school), doubting my abilities to do … We talk about CRISPR and genetic engineering, but don't conduct labs associated with the concepts. Is the …