Anat Blumenfeld is an Israeli research

biochemist Biochemists are scientists who are trained in biochemistry. They study chemical processes and chemical transformations in living organisms. Biochemists study DNA, proteins and Cell (biology), cell parts. The word "biochemist" is a portmanteau of ...

Hadassah Medical Center Hadassah Medical Center ( he, הָמֶרְכָּז הָרְפוּאִי הֲדַסָּה) is an Israeli medical organization established in 1934 that operates two university hospitals in Jerusalem – one in Ein Karem and one in Mount Scopus –, ...

Jerusalem Jerusalem (; he, יְרוּשָׁלַיִם ; ar, القُدس ) (combining the Biblical and common usage Arabic names); grc, Ἱερουσαλήμ/Ἰεροσόλυμα, Hierousalḗm/Hierosóluma; hy, Երուսաղեմ, Erusałēm. i ...

. Blumenfeld discovered a

chromosome A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins are ...

responsible for the serious disease

Familial dysautonomia Familial dysautonomia (FD), also known as Riley-Day Syndrome, is a rare, progressive, recessive genetic disorder of the autonomic nervous system that affects the development and survival of sensory, sympathetic and some parasympathetic neurons ...

which affects the nerves of fetuses. About 100 families in

Israel Israel (; he, יִשְׂרָאֵל, ; ar, إِسْرَائِيل, ), officially the State of Israel ( he, מְדִינַת יִשְׂרָאֵל, label=none, translit=Medīnat Yīsrāʾēl; ), is a country in Western Asia. It is situated ...

Ashkenazi Ashkenazi Jews ( ; he, יְהוּדֵי אַשְׁכְּנַז, translit=Yehudei Ashkenaz, ; yi, אַשכּנזישע ייִדן, Ashkenazishe Yidn), also known as Ashkenazic Jews or ''Ashkenazim'',, Ashkenazi Hebrew pronunciation: , singu ...

Jewish origin have one or more children with the disease, and they suffer from nausea, high blood pressure, and some food entering their lungs. Dr. Blumenfeld says the disease was discovered about 40 years ago, but researchers did not know what caused it and whether it was genetic. She collected blood specimens for three years from the affected families and checked all their chromosomes and identified No. 9 as causing the disease. Apart from the Hadassah Hospital in Jerusalem, where Blumenfeld works,"Mutation in Transcription Factor POU4F3 Associated with Inherited Progressive Hearing Loss in Humans" - Science
/ref> the test is now used only in

New York New York most commonly refers to: * New York City, the most populous city in the United States, located in the state of New York * New York (state), a state in the northeastern United States New York may also refer to: Film and television * '' ...

References

{{DEFAULTSORT:Blumenfeld, Anat Year of birth missing (living people) Israeli biochemists Living people

See also

References