February is American Heart Month, which is an appropriate time to learn how genetic testing can protect your family.

The only alternative until now has been non-invasive prenatal testing (NIPT), but it can assess risk for only about 10 percent of known genetic disorders, including Tay-Sachs, cystic fibrosis ... Noam ...

The mutations responsible for FD were found to occur in a gene ... date demonstrate that the carrier frequency for FD is approximately the same as that of Tay Sachs in those of Ashkenazi Jewish ...

One example is Down syndrome, in which the person has an extra copy of the genes found in chromosome 21. Not all mutations make a difference. Some "silent" mutations don’t change how the protein ...

Amino acids are then strung together by the cell to create proteins. There is some redundancy in that genetic code, but there are single-base pair changes, or mutations, that can alter the resulting ...

The diminutive white campion plant, for instance, packs a Y chromosome that is bigger than ... of male plants they found that exhibited mutations and pinpointed genes playing different roles ...

Researchers in the group of Dr. Myriam Charpentier discovered a mutation in a gene in the legume Medicago truncatula that reprograms the signaling capacity of the plant so that it enhances ...

In 2021, he and his wife Myra experienced the devastating loss of their daughter, Havi, to Tay-Sachs disease ... The Seventh Annual Medical Genetics Awareness Week Will Be Celebrated March ...

A mutation that causes an amino-acid substitution in a channel called CNGC15 in the plant cell’s nucleus boosts the formation of such endosymbiotic relationships. Studying ion channels in their ...

For 30 years, researchers have known that Huntington's is caused by an inherited mutation in the Huntingtin (HTT) gene, but they didn't know how the mutation causes brain cell death.

In early December 2024, a group of researchers published an article in the journal Science, entitled "A single mutation in bovine influenza H5N1 hemagglutinin switches specificity to human receptors".