Understanding rare disease pathogenesis: a grand challenge for model organisms.

نویسندگان

  • Philip Hieter
  • Kym M Boycott
چکیده

In this commentary, Philip Hieter and Kym Boycott discuss the importance of model organisms for understanding pathogenesis of rare human genetic diseases, and highlight the work of Brooks et al., "Dysfunction of 60S ribosomal protein L10 (RPL10) disrupts neurodevelopment and causes X-linked microcephaly in humans," published in this issue of GENETICS.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Understanding, modeling and predicting weather and climate extremes: Challenges and opportunities

Weather and climate extremes are identified as major areas necessitating further progress in climate research and have thus been selected as one of the World Climate Research Programme (WCRP) Grand Challenges. Here, we provide an overview of current challenges and opportunities for scientific progress and cross-community collaboration on the topic of understanding, modeling and predicting extre...

متن کامل

Renal Medullary Carcinoma; A Rare Entity

AbstractRenal medullary carcinoma (RMC) is an uncommon aggressive neoplasm of the kidney. RMC is biologically aggressive with a very poor prognosis, and metastasis is seen in up to 95% of the patients at diagnosis or shortly thereafter. The common sites of metastasis are respectively lymph nodes, lungs, livers, and adrenal glands in order of frequency. The presence of poorly differentiated eosi...

متن کامل

Addressing Grand Challenges In Organismal Biology: The Need For Synthesis

Animals are complex systems operating at multiple spatial and temporal scales, facing the challenge of how to change in appropriate ways, degrees, and times, in response to the diverse internal and external influences to which they are exposed. Discovering the system-level attributes of organisms that make them resilient or robust—or sensitive or fragile—to change presents a grand challenge for...

متن کامل

Gates Foundation picks 14 grand challenges for global disease research.

The Bill and Melinda Gates Foundation announced the first 14 targets of a US$ 200 million programme on global disease research, on 17 October. The " Grand Challenges in Global Health " initiative, launched by Bill Gates at the World Economic Forum in Davos, Switzerland, in January 2003, is intended to encourage innovations in science and technology in order to remove some of the obstacles to mo...

متن کامل

Maple Syrup Urine Disease Induced Grand Mal Seizures: A Case Report

Background Maple Syrup Urine Disease (MSUD) is a rare autosomal recessive metabolic error, characterized by Branched Chain α-Keto-acid Dehydrogenase Complex (BCKDC) deficiency. Mutations in 3 genes can lead to abnormal metabolism and accumulation of leucine, isoleucine, valine and corresponding keto-acids. MSUD affects 1 in 185,000 infants globally. Seizure is a common presentation among neonat...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:
  • Genetics

دوره 198 2  شماره 

صفحات  -

تاریخ انتشار 2014