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NIH researchers identify new genetic disorder that affects brain, craniofacial skeleton

Auckland boy with rare syndrome learns to walk in time for Christmas

Adam’s dad, David McNickel, said he and his wife Miao Miao Li, also known as Sarah, weren’t aware of Adam s diagnosis until after his birth. There had been concerns about his size but it was thought he was just going to be a small baby. McNickel said his son was diagnosed with the syndrome at four days old and stayed in the neonatal intensive care unit for two months. Chris McKeen/Stuff Adam McNickel, 4, pictured with parents David McNickel and Miao Miao (Sarah) Li. He only knows of one other New Zealander with the syndrome and said a genetics doctor told him they hadn’t seen a person with the same syndrome since Adam was born.

Covid Is Deadlier for People With Autism, Down Syndrome Now Families Are Pushing Hard for Vaccines

Updated Dec. 23, 2020 1:45 pm ET A higher Covid-19 death rate among people with autism, Down syndrome and other intellectual development disorders has sparked a lobbying effort by family members and caregivers to persuade states to give priority to the group in vaccine rollouts. People with such disorders, who account for one in 50 Americans, are on average more than 2½ times as likely to die from Covid-19 as the wider U.S. population, according to a Wall Street Journal analysis of data from 12 states. The analysis mirrors similar, recent studies. One study, conducted by nonprofit organization FAIR Health, found the group’s death rate is higher than many others already widely recognized as particularly vulnerable to the disease.

UNA Students Present at HudsonAlpha CODE Virtual Student Symposium

By Staff | December 12, 2020 | Filed under: News FLORENCE – Undergraduate students from the biology, computer science, and mathematics programs at the University of North Alabama took part in the HudsonAlpha CODE Virtual Student Symposium recently as part of their ongoing research into certain genetic conditions.   CODE, or Characterizing our DNA Exceptions, is a program that engages undergraduates in original genomic research to encourage students interested in Science, Technology, Engineering, and Math careers. Working with HudsonAlpha researchers and educators in coordination with partner schools, students use computational analyses to determine the biological relevance of DNA variants from patient and agricultural samples.   As part of their participation in the program, students from UNA conducted original research in order to characterize variants of uncertain significance associated with cystic fibrosis; dwarfism; Doose syndrome, which is a form of childhood epi

Severe cortical damage associated with COVID-19 case report

Severe cortical damage associated with COVID-19 case report In December 2019, the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) began to cause a flu-like infection in people living in Wuhan, China. One year later, the coronavirus disease 2019 (COVID-19) has infected more than 68 million people and claimed over 1.56 million lives. Serial contrast enhanced MRI brain performed prior to illness and at 3 time points during current illness. Image Credit: https://www.seizure-journal.com/article/S1059-1311(20)30362-9/fulltext The symptoms of this infection are fever, cough, tiredness, shortness of breath, and in some cases, diarrhea. The COVID-19 is primarily associated with respiratory or gastrointestinal issues.

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